240 results on '"Hypertrichosis pathology"'
Search Results
102. Becker nevus syndrome.
- Author
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Cosendey FE, Martinez NS, Bernhard GA, Dias MF, and Azulay DR
- Subjects
- Adolescent, Female, Humans, Hyperpigmentation pathology, Syndrome, Breast abnormalities, Hamartoma pathology, Hypertrichosis pathology, Skin Diseases pathology
- Abstract
Becker nevus syndrome is a phenotype characterized by the fundamental presence of Becker's nevus with ipsilateral hypoplasia of the breast or other skin, skeletal and/or muscular disorders. This syndrome generally originates at birth, intensifies significantly in adolescence and is one of the syndromes that constitute epidermal nevus syndrome. To the best of our knowledge, this is the first case published in the Brazilian literature of Becker nevus syndrome associated with Becker's nevus, ipsilateral breast hypoplasia and scoliosis in a 14-year-old girl.
- Published
- 2010
- Full Text
- View/download PDF
103. H syndrome: recently defined genodermatosis with distinct histologic features. A morphological, histochemical, immunohistochemical, and ultrastructural study of 10 cases.
- Author
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Doviner V, Maly A, Ne'eman Z, Qawasmi R, Aamar S, Sultan M, Spiegel M, Molho-Pessach V, and Zlotogorski A
- Subjects
- Adolescent, Adult, Antigens, CD metabolism, Antigens, CD34 metabolism, Antigens, Differentiation, Myelomonocytic metabolism, Biopsy, Child, Elastic Tissue ultrastructure, Endoplasmic Reticulum ultrastructure, Female, Histiocytes metabolism, Histiocytes pathology, Histiocytes ultrastructure, Humans, Hyperpigmentation diagnosis, Hyperpigmentation metabolism, Hypertrichosis diagnosis, Hypertrichosis metabolism, Lipopolysaccharide Receptors metabolism, Lysosomes ultrastructure, Male, Plasma Cells metabolism, Plasma Cells pathology, Plasma Cells ultrastructure, Scleroderma, Systemic diagnosis, Scleroderma, Systemic metabolism, Skin metabolism, Skin pathology, Skin ultrastructure, Skin Diseases diagnosis, Skin Diseases metabolism, Syndrome, Young Adult, Hyperpigmentation pathology, Hypertrichosis pathology, Scleroderma, Systemic pathology, Skin Diseases pathology
- Abstract
This study analyzes the histopathological findings in H syndrome, a recently recognized autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin in well-defined anatomical areas accompanied by various systemic manifestations. So far, descriptions of the histopathological skin changes in this disorder, as reported in a few small case series, were inconsistent, leading to diverse clinical interpretations. In an attempt to define standardized, diagnostic, morphological criteria that will distinguish this disorder from other fibrosing conditions, we studied skin biopsies from 10 patients with H syndrome. The characteristic morphology included widespread fibrosis (moderate in dermis and severe in subcutis); striking mononuclear infiltrates consisting mainly of monocyte-derived cells (small CD68 histiocytes and CD34 and FXIIIa dendrocytes) and plasma cells; and thickened, fragmented, and partially calcified elastic fibers, admixed with well-formed psammoma bodies, a previously unrecognized feature in nonneoplastic skin and subcutaneous conditions. In addition, the ultrastructure of CD68 small histiocytes exhibited distended endoplasmic reticulum and scarcity of lysosomes, features typical for fibroblasts but unusual for histiocytes. These unusual findings in the histiocytes pose a question as to their possible role in the fibrotic cascade in this disorder. We conclude that the above findings are essential for the diagnosis of H syndrome and that incisional biopsies are mandatory for recognition of the full spectrum of histopathological findings.
- Published
- 2010
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104. The H syndrome.
- Author
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El-Khateeb EA
- Subjects
- Bone Diseases diagnostic imaging, Female, Humans, Hyperpigmentation pathology, Hypertrichosis pathology, Radiography, Skin Diseases, Genetic pathology, Young Adult, Bone Diseases genetics, Hyperpigmentation genetics, Hypertrichosis genetics, Nucleoside Transport Proteins genetics, Skin Diseases, Genetic genetics
- Abstract
The H syndrome is a recently defined autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by cutaneous changes of progressive sclerosis, hyperpigmentation, and hypertrichosis that follow a specific pattern and are associated with multiple systemic manifestations. A case is presented and a brief review is introduced based on the few related reports.
- Published
- 2010
- Full Text
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105. [Hypertrichosis cubiti (hairy elbows syndrome)].
- Author
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León-Muiños E, Monteagudo B, Cabanillas M, Suárez-Amor O, and Bermúdez E
- Subjects
- Child, Humans, Elbow, Hypertrichosis pathology
- Published
- 2009
- Full Text
- View/download PDF
106. Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome.
- Author
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El-Darouti MA
- Subjects
- Hearing Loss, Sensorineural pathology, Humans, Male, Splenomegaly pathology, Hyperpigmentation pathology, Hypertrichosis pathology, Skin Diseases, Genetic pathology, Syndrome
- Published
- 2009
- Full Text
- View/download PDF
107. Faun tail nevus with aplasia cutis congenita.
- Author
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Chander R, Jain A, Jaykar K, Garg T, and Anand R
- Subjects
- Child, Ectodermal Dysplasia pathology, Female, Humans, Hypertrichosis pathology, Lumbosacral Region, Magnetic Resonance Imaging, Neural Tube Defects complications, Neural Tube Defects diagnosis, Nevus pathology, Skin Neoplasms pathology, Spina Bifida Occulta complications, Spina Bifida Occulta diagnosis, Ectodermal Dysplasia complications, Hypertrichosis complications, Nevus complications, Skin Neoplasms complications
- Abstract
Faun tail nevus describes abnormal lumbar hypertrichosis, which may overlie on occult spinal abnormality and be a marker of asymptomatic underlying spinal dysraphism. We report a case of faun tail nevus, with dermal pits along with aplasia cutis congenita and asymptomatic spina bifida occulta, tethered conus, and diastematomyelia, a constellation of findings which to our knowledge has not been previously reported.
- Published
- 2009
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108. Multiple nevoid hypertrichosis as an isolated developmental defect.
- Author
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Sotiriadis D, Patsatsi A, Lazaridou E, Sotiriou E, and Devliotou-Panagiotidou D
- Subjects
- Child, Preschool, Extremities, Female, Humans, Lumbosacral Region, Scalp, Hypertrichosis pathology, Nevus pathology, Skin Neoplasms pathology
- Abstract
A 3-year-old girl presented with longer hair on the left side of her scalp, coarse hair of abnormal length on her extremities, and a tuft of hair in the lumbosacral region, with all hair distributed on normally pigmented skin. Neither similar or relevant family history nor associated extracutaneous abnormalities was detected after a thorough examination. Clinical diagnosis of patchy nevoid hypetrichosis was confirmed by histology. Nevoid hypertrichosis is a rare hair growth disorder that usually presents at or soon after birth. It is characterized by patches of hypertrichosis distributed in a segmental pattern. It may be accompanied by mental, ocular, or myoskeletal abnormalities. Cases of nevoid hypertrichosis with multiple patches presenting as a solitary developmental defect have been rarely described in the literature.
- Published
- 2009
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109. [Ciliary hypertrichosis and facial dysmorphia associated with diffuse, congenital hypertrichosis: Ambras syndrome?].
- Author
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Boui M, Ghfir M, and Sedrati O
- Subjects
- Child, Diagnosis, Differential, Face pathology, Female, Humans, Hypertrichosis pathology, Syndrome, Face abnormalities, Hypertrichosis genetics
- Published
- 2009
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110. An enlarging lesion on the knee of a teenager. Becker nevus.
- Author
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Monroe JR
- Subjects
- Adolescent, Biopsy, Needle, Diagnosis, Differential, Humans, Hypertrichosis pathology, Male, Nevus, Pigmented pathology, Skin Neoplasms pathology, Nevus, Pigmented diagnosis, Skin Neoplasms diagnosis
- Published
- 2009
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111. [Congenital universal hypertrichosis].
- Author
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Maza A, Gaudy-Marqueste C, Collet-Vilette AM, Joubert F, Richard MA, and Grob JJ
- Subjects
- Child, Chromosome Mapping, Chromosomes, Human, Pair 8, Female, Hirsutism etiology, Humans, Hypertrichosis genetics, Hypertrichosis pathology, Hypertrichosis congenital
- Published
- 2009
- Full Text
- View/download PDF
112. Localized hypertrichosis due to temporary henna tattoos: report of three cases.
- Author
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Durmazlar SP, Tatlican S, and Eskioglu F
- Subjects
- Adolescent, Adult, Child, Female, Humans, Male, Remission, Spontaneous, Arm pathology, Coloring Agents adverse effects, Hypertrichosis etiology, Hypertrichosis pathology, Naphthoquinones adverse effects, Tattooing adverse effects
- Abstract
Temporary henna tattoos have become increasingly widespread. Although reactions to henna tattoo are becoming progressively more common, only one case of a henna pseudotattoo resulting in temporary hypertrichosis has been reported so far. We report three patients who received paint-on henna tattoos on their right upper arm. Approximately 1 week later, localized hypertrichosis was observed over the same area as the tattoo, which resolved spontaneously within 3-4 months. Clinicians should be aware of this complication and it should be noted that treatment is not necessary as hypertrichosis resolves spontaneously.
- Published
- 2009
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113. Anesthetic experience in a patient with Cantú syndrome.
- Author
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O'Brien JJ and Ririe DG
- Subjects
- Child, Dental Restoration, Permanent, Humans, Hypertension, Pulmonary complications, Male, Pericardiocentesis, Syndrome, Anesthesia, General, Cardiomegaly pathology, Hypertrichosis pathology, Osteochondrodysplasias pathology
- Published
- 2008
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114. Congenital plaque-like glomangioma associated with superficial hypertrichosis.
- Author
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Rodríguez-Martín M, Sánchez R, Sáez-Rodríguez M, García-Bustínduy M, Sidro M, Pérez N, González S, Alvarez H, and Noda A
- Subjects
- Dermis pathology, Glomus Tumor congenital, Glomus Tumor pathology, Hair Follicle pathology, Humans, Hypertrichosis pathology, Infant, Male, Skin Neoplasms congenital, Skin Neoplasms pathology, Glomus Tumor complications, Hypertrichosis complications, Skin Neoplasms complications
- Published
- 2008
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115. Temporary localized hypertrichosis after henna pseudotattoo.
- Author
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del Boz J, Martín T, Samaniego E, Vera A, Morón D, and Crespo V
- Subjects
- Biopsy, Child, Preschool, Fibrosis, Humans, Hypertrichosis pathology, Male, Skin pathology, Hypertrichosis etiology, Naphthoquinones, Tattooing
- Abstract
We report the case of a 5-year-old boy who had a temporary dragon-shaped henna pseudotattoo, reinforced 4 days later. Two weeks later, as the pseudotattoo began to disappear, hypertrichosis developed in the area corresponding to the previous psuedotattoo. Skin biopsy showed an increase in vellus hair follicles, with slight peripheral fibrosis. After 4 months, the hypertrichosis resolved spontaneously.
- Published
- 2008
- Full Text
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116. Becker nevus on the lower limb: case report and review of the literature.
- Author
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Alhusayen R, Kanigsberg N, and Jackson R
- Subjects
- Adult, Diagnosis, Differential, Hamartoma pathology, Humans, Hyperpigmentation pathology, Hypertrichosis pathology, Male, Skin Diseases pathology, Hamartoma diagnosis, Hyperpigmentation diagnosis, Lower Extremity, Skin Diseases diagnosis
- Abstract
Background: Becker nevus is a hamartoma with brown hyperpigmentation and hypertrichosis that usually affects young males. It has a predilection for the upper half of the trunk and proximal upper extremity., Objective: This is a case report of a 38-year-old male with a Becker nevus without hypertrichosis on the lower limb and a review of the literature., Results: Including our case report, 12 cases of Becker nevus on the lower limb were identified in the English literature (8 males and 4 females). It has never been reported below the knee. In males, the lesion was not associated with other anomalies, and all but two showed hypertrichosis (six of eight). In 50% (two of four) of women, it was associated with localized lipoatrophy. In one woman, it presented without hypertrichosis., Conclusion: The presence of Becker nevi on the lower limb is unusual, and hypertrichosis is not always a feature. Larger studies are required to look into the true prevalence of this presentation and its prognostic value as a marker for other anomalies.
- Published
- 2008
- Full Text
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117. Correlation between finger-prick and venous ciclosporin levels: association with gingival overgrowth and hypertrichosis.
- Author
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Webb NJ, Coulthard MG, Trompeter RS, Fitzpatrick MM, Stephens S, Dudley J, Maxwell H, Waller S, Smith GC, Watson AR, Hughes DA, Keevil BG, and Ellis JS
- Subjects
- Child, Chromatography, High Pressure Liquid, Cyclosporine adverse effects, Cyclosporine blood, Female, Fingers blood supply, Gingival Diseases blood, Gingival Diseases pathology, Humans, Hypertrichosis blood, Hypertrichosis pathology, Immunosuppressive Agents adverse effects, Immunosuppressive Agents blood, Kidney Transplantation, Male, Nephrotic Syndrome surgery, Spectrometry, Mass, Electrospray Ionization, Tandem Mass Spectrometry, Blood Specimen Collection methods, Cyclosporine pharmacokinetics, Drug Monitoring methods, Gingival Diseases chemically induced, Hypertrichosis chemically induced, Immunosuppressive Agents pharmacokinetics, Nephrotic Syndrome drug therapy
- Abstract
The aims of this study were (1) to ascertain ciclosporin C(2) levels currently being achieved in children with steroid-sensitive nephrotic syndrome (SSNS) and renal transplants (RTs), (2) to determine the feasibility of the use of finger-prick samples for the measurement of ciclosporin levels, and (3) to identify any correlation between hypertrichosis or gingival overgrowth (GO) and level of ciclosporin 2 h post-dose (C(2)). Seventy-two children (39 with SSNS, 33 with RT) participated. Ciclosporin 12 h trough (C(12)) and C(2) levels were measured in venous and finger-prick samples by high-performance liquid chromatography tandem mass spectroscopy. Photographs of the teeth and back were taken for assessment of GO and hypertrichosis. Mean (+/-SD) C(2) levels in the SSNS and RT groups were 512 (+/-181) microg/l and 471 (+/-229) microg/l. There was a highly significant relationship between venous and finger-prick ciclosporin levels (r(2) = 0.96, P < 0.0001). Fourteen children had severe GO. There was a small, though statistically significant, impact of ciclosporin level on GO (C(2) r(2) = 0.12, P = 0.003 and C(12) r(2) = 0.06, P = 0.038) but no correlation with dose (milligrammes per kilogramme per day or milligrammes per square metre per day) or duration. Seventeen children had moderate or severe hypertrichosis, this being more common in children of South Asian ethnicity (P < 0.0001). There was no correlation between ciclosporin exposure or duration and hypertrichosis. Finger-prick blood sampling may serve as a practical alternative to venepuncture in children receiving ciclosporin.
- Published
- 2007
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118. [Two cases of hypertrichosis cubiti].
- Author
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Yuste-Chaves M, Zafra-Cobo MI, Martínez de Salinas A, and Bravo-Piris J
- Subjects
- Arm, Child, Female, Humans, Hypertrichosis pathology
- Published
- 2007
119. Aplasia cutis congenita: a rare cutaneous sign of split cord malformations.
- Author
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Izci Y, Gönül M, Secer HI, and Gönül E
- Subjects
- Adult, Back pathology, Humans, Hypertrichosis pathology, Magnetic Resonance Imaging, Male, Spinal Dysraphism pathology, Abnormalities, Multiple pathology, Ectodermal Dysplasia pathology, Skin pathology, Spinal Cord abnormalities
- Abstract
Background: Aplasia cutis congenita (ACC) is characterized by the absence of a portion of skin in a localized or widespread area at birth. It manifests usually as a solitary defect on the scalp, but sometimes may occur on the face, trunk, or limbs. ACC is most often a benign isolated defect, but can be associated with other physical anomalies or malformation syndromes. A few cases have been reported in which patients with split cord malformation (SCM) have presented with ACC., Methods: Two patients with SCM are reported., Results: Both patients presented with ACC and abnormal hair growth on their backs. Type II SCM was detected in the first patient and Type I SCM in the second. No surgical treatment was performed because the patients were neurologically intact., Conclusions: ACC may seldom manifest as a skin marker of SCM. Our patients are unique examples of SCM presenting with ACC, but not requiring surgery. It is important to recognize ACC as a cutaneous sign of SCM, and to refer these patients to radiologic evaluation as soon as possible.
- Published
- 2007
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120. [Chronic inflammatory demyelinating polyneuropathy (CIDP) revealing an associated disease diagnostic and therapeutic pitfalls].
- Author
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Maisonobe T and Jaccard A
- Subjects
- Anti-Infective Agents therapeutic use, Electrodiagnosis, Humans, Hypertrichosis complications, Hypertrichosis pathology, Male, Median Nerve physiopathology, Middle Aged, Motor Neurons physiology, Neural Conduction physiology, Osteitis complications, Osteitis diagnostic imaging, POEMS Syndrome diagnostic imaging, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating drug therapy, Prednisone therapeutic use, Radiography, Skin pathology, POEMS Syndrome diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating complications, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating diagnosis
- Abstract
The objective of this case report is to illustrate the problem's diagnosis of a CIDP revealing a associated disease. The patient had initially a sensory CIDP wich respond to prednisone. After 2 years, he worsened with motor deficit, pain and atypical skin's lesions. The diagnosis of POEMS syndrome was made only in the fourth research of monoclonal gammopathy. A specific treatment was realised but too late and a important motor deficit with axonal loss unfortunately persisted.
- Published
- 2007
121. Localized hypertrichosis after intense pulsed light treatment for tattoo removal.
- Author
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Barcaui CB
- Subjects
- Adult, Back pathology, Diagnosis, Differential, Humans, Hypertrichosis etiology, Hypertrichosis pathology, Male, Hypertrichosis diagnosis, Phototherapy adverse effects, Tattooing
- Published
- 2007
- Full Text
- View/download PDF
122. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?
- Author
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Prendiville J, Rogers M, Kan A, de Castro F, Wong M, Junker A, Becknell C, and Schultz K
- Subjects
- Adolescent, Child, Consanguinity, Diabetes Mellitus, Type 1 pathology, Humans, Hyperpigmentation pathology, Hypertrichosis pathology, Male, Diabetes Mellitus, Type 1 complications, Diabetes Mellitus, Type 1 genetics, Hyperpigmentation complications, Hyperpigmentation genetics, Hypertrichosis complications, Hypertrichosis genetics
- Abstract
A novel pigmented dermatosis was observed in four unrelated boys, three of whom had insulin-dependent diabetes. Three patients were the offspring of consanguineous parents. All four boys had pigmented hypertrichotic patches or induration on the upper inner thighs, with variable involvement of the genitalia, trunk, and limbs. Two boys had episcleritis and orbital proptosis with similar facies and musculoskeletal abnormalities including clinodactyly, flat feet, and short stature. One child had paraaortic and inguinal lymphadenopathy and three patients had an enlarged liver and spleen. A large, swollen pancreas was observed on ultrasound imaging in one patient with insulin dependent diabetes who also had echocardiographic evidence of pericardial inflammation. Three boys had elevated laboratory markers of inflammation. Biopsy specimens from the skin and orbit showed a chronic inflammatory cell infiltrate composed of polyclonal lymphocytes, histiocytes, and plasma cells; fibrosis was observed in two patients, one of whom had previously received radiation therapy to the orbit. Two boys responded to treatment with subcutaneous interferon-alpha, combined with a short course of oral prednisone in the child without diabetes. We believe these inflammatory pigmented skin lesions represent a unique dermatosis associated with diabetes mellitus and systemic disease. The pathogenesis is unknown. The presence of consanguinity in three of four families, and similar dysmorphic features in two boys, suggest a genetic disorder, possibly with autosomal recessive inheritance.
- Published
- 2007
- Full Text
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123. Acquired hypertrichosis lanuginosa as a presenting sign of metastatic prostate cancer with rapid resolution after treatment.
- Author
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Wyatt JP, Anderson HF, Greer KE, and Cordoro KM
- Subjects
- Aged, 80 and over, Humans, Male, Medical Records, Face, Hair pathology, Hypertrichosis etiology, Hypertrichosis pathology, Orchiectomy, Prostatic Neoplasms complications, Prostatic Neoplasms surgery, Shoulder
- Abstract
Background: Acquired hypertrichosis lanuginosa (AHL) is a rare cutaneous disorder that involves spontaneous growth of lanugo-type hair in association with overt or occult malignant neoplasms. Bronchopulmonary and gastrointestinal malignancies are most commonly associated., Case Presentation: We report the occurrence of AHL associated with metastatic prostate cancer and its abrupt resolution after bilateral orchiectomy. To our knowledge, this is the first reported case of an association with prostate cancer., Limitations: The case presented represents a single patient; therefore, the findings and results reported may not be applicable to all patient populations., Conclusion: A variety of cutaneous findings are considered warning indicators of underlying neoplastic disease. Physician awareness of such signs can prompt timely and potentially life-saving investigations and interventions. AHL is regarded as such a sign. Physician awareness of the addition of prostate cancer to the growing list of AHL-associated malignancies provides rationale for appropriate testing and referral.
- Published
- 2007
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124. Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
- Author
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Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GA, Morton CC, Quade BJ, and Gusella JF
- Subjects
- Adaptor Proteins, Signal Transducing, Calcium Channels, L-Type genetics, Cell Line, Chromosome Breakage, Craniofacial Abnormalities pathology, Cytoskeletal Proteins, Fibroblasts, Gingival Hyperplasia pathology, Humans, Hypertrichosis pathology, In Situ Hybridization, Fluorescence, Male, Proto-Oncogene Proteins genetics, Syndrome, Wnt Proteins genetics, Wnt-5a Protein, Chromosomes, Human, Pair 3 genetics, Craniofacial Abnormalities genetics, Gingival Hyperplasia genetics, Hypertrichosis genetics, Translocation, Genetic
- Abstract
A male with 46,XY,t(3;17)(p14.3;q24.3) presented with gingival hyperplasia, hypertrichosis, unusually large ears and marked hypertrophy of the nose, characteristic of the Zimmermann-Laband syndrome (ZLS). Other features include large facial bones and mandibles, large protruding upper lip, enlarged fingers and toes, strabismus, and enlarged phallus. Knowledge of a 46,XX,t(3;8)(p21.2;q24.3) reported previously in a mother and daughter with ZLS suggests that the 3p14.3-p21.2 region may contain a gene responsible for ZLS. We have reassessed the chromosome 3 breakpoint region of the t(3;8) and revised its breakpoint location to 3p14.3, based upon an updated human genome sequence assembly. Using fluorescence in situ hybridization (FISH) with BAC clones, we have also identified a breakpoint spanning clone at 3p14.3 in our t(3;17) patient, thereby narrowing the breakpoint to a region of approximately 200 kb. These data suggest that the gene responsible for ZLS is located in 3p14.3 and implicates four likely candidate genes in this region: CACNA2D3, encoding a voltage-dependent calcium channel, LRTM1, a gene of unknown function embedded within CACNA2D3, WNT5A, encoding a secreted signaling protein of the WNT family, and ERC2, which codes for a synapse protein., ((c) 2006 Wiley-Liss, Inc)
- Published
- 2007
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125. Hypertrichosis in a horse with alimentary T-cell lymphoma and pituitary involvement.
- Author
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Mitsui I, Jackson LP, Couëtil LL, Lin TL, and Ramos-Vara JA
- Subjects
- Animals, Female, Gastrointestinal Neoplasms complications, Gastrointestinal Neoplasms pathology, Horses, Hypertrichosis complications, Hypertrichosis pathology, Lymphoma, T-Cell complications, Lymphoma, T-Cell pathology, Pituitary Neoplasms secondary, Gastrointestinal Neoplasms veterinary, Horse Diseases pathology, Hypertrichosis veterinary, Lymphoma, T-Cell veterinary, Pituitary Neoplasms veterinary
- Abstract
A 13-year-old Quarterhorse mare had a 6-month history of diarrhea, progressive weight loss, and lethargy. At presentation the mare was hirsute, had hyperhidrosis, and abnormal fat distribution in addition to severe diarrhea. A presumptive clinical diagnosis of protein-losing enteropathy and pituitary pars intermedia dysfunction was made. T-cell lymphoma was diagnosed in a rectal biopsy specimen. The owner elected to euthanize the mare because of poor prognosis and the severity of the disease. At necropsy, the mare had hypertrichosis and the pituitary gland was diffusely enlarged. Histologically, neoplastic lymphocytes infiltrated the gastrointestinal mucosa, mesenteric lymph nodes, and the pituitary gland. In addition, there was hyperplasia of the pituitary gland pars intermedia. Pituitary adenoma was not present. Hypertrichosis in this case could have been triggered by a combination of adenomatous hyperplasia of pars intermedia and lymphoma resulting in disruption of the hypothalamic dopaminergic tone or disruption of the hypothalamic thermoregulatory center.
- Published
- 2007
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126. Trichophyia and hypertrichosis: a side effect of foam sclerotherapy.
- Author
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Kalodiki E, Azzam M, and Geroulakos G
- Subjects
- Aged, Female, Humans, Hypertrichosis pathology, Hypertrichosis physiopathology, Leg, Hair growth & development, Hypertrichosis etiology, Sclerotherapy adverse effects, Varicose Veins therapy
- Published
- 2006
- Full Text
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127. Facial hypertrichosis induced by Cetuximab, an anti-EGFR monoclonal antibody.
- Author
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Kerob D, Dupuy A, Reygagne P, Levy A, Morel P, Bernard BA, and Lebbé C
- Subjects
- Aged, Antibodies, Monoclonal therapeutic use, Antibodies, Monoclonal, Humanized, Antineoplastic Agents therapeutic use, Carcinoma drug therapy, Carcinoma secondary, Cetuximab, ErbB Receptors, Face, Female, Humans, Hypertrichosis pathology, Leg, Skin Neoplasms drug therapy, Skin Neoplasms pathology, Antibodies, Monoclonal adverse effects, Antineoplastic Agents adverse effects, Hypertrichosis chemically induced
- Published
- 2006
- Full Text
- View/download PDF
128. Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.
- Author
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Wilson LC, Ajayi-Obe E, Bernhard B, and Maas SM
- Subjects
- Basal Cell Nevus Syndrome genetics, Child, Preschool, Female, Hair Follicle growth & development, Humans, Hypertrichosis genetics, Hypertrichosis pathology, Infant, Male, Models, Biological, Patched Receptors, Patched-1 Receptor, Basal Cell Nevus Syndrome pathology, Hair growth & development, Mutation, Receptors, Cell Surface genetics
- Abstract
We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise.
- Published
- 2006
- Full Text
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129. Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis.
- Author
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Roh MR, Chung HJ, Cho YH, and Chung KY
- Subjects
- Female, Hair pathology, Hepatitis, Autoimmune diagnosis, Humans, Hypertrichosis pathology, Middle Aged, Hepatitis, Autoimmune complications, Hypertrichosis etiology
- Abstract
Hypertrichosis lanuginosa acquisita (HLA) is an unusual condition which is characterized by subtle and progressive development of multiple, long, thin, unmedullated hairs ("lanugo hairs") distributed preferentially on the face. Most cases are associated with malignant tumors or non-malignant condition such as porphyria cutanea tarda, AIDS, anorexia nervosa, thyrotoxicosis, or secondary to topical or systemic drugs (e.g. cyclosporine, phenytoin, diazoxide, minoxidil). We have recently experienced a rare case of hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis. To our best knowledge, this is the first report of hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis. Our observation expands the spectrum of diseases associated with this uncommon disorder.
- Published
- 2006
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130. Anterior cervical hypertrichosis and mental retardation.
- Author
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Thienpont B, Vermeesch J, and Devriendt K
- Subjects
- Abnormalities, Multiple genetics, Child, Face abnormalities, Female, Genome, Human, Humans, Hyperopia pathology, Karyotyping, Lumbosacral Region, Neck, Nucleic Acid Hybridization methods, Abnormalities, Multiple pathology, Hypertrichosis pathology, Intellectual Disability pathology
- Abstract
Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental retardation, mildly dysmorphic facial features, obesity, hypermetropia and additional hair anomalies (low dorsal hair line on the neck, lumbosacral hypertrichosis). Karyotype and array comparative genomic hybridization analysis at 1 Mb resolution were normal.
- Published
- 2006
- Full Text
- View/download PDF
131. Stiff skin syndrome.
- Author
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Geng S, Lei X, Toyohara JP, Zhan P, Wang J, and Tan S
- Subjects
- Child, Preschool, Humans, Hypertrichosis diagnosis, Hypertrichosis physiopathology, Joints pathology, Male, Range of Motion, Articular physiology, Scleroderma, Diffuse diagnosis, Scleroderma, Diffuse physiopathology, Syndrome, Hypertrichosis pathology, Scleroderma, Diffuse pathology
- Abstract
Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features.
- Published
- 2006
- Full Text
- View/download PDF
132. Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.
- Author
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Polizzi A, Pavone P, Ciancio E, La Rosa C, Sorge G, and Ruggieri M
- Subjects
- Abnormalities, Multiple etiology, Child, Female, Humans, Hypertrichosis etiology, Mosaicism, Abnormalities, Multiple pathology, Elbow pathology, Hypertrichosis pathology
- Abstract
Hypertrichosis cubiti (HC) or hairy elbow syndrome (OMIM # 139600) consists of a localised form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally, or occasionally on other parts of the body. In the 28 cases reported in the literature so far the elbow hair abnormality was either isolated or associated with short stature or other physical abnormalities. Most of these cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have been postulated. We report on three unrelated girls (aged 7 to 11 years) of whom one presented with excess hair in the elbows alone and the other two had associated abnormalities including short stature, dysmorphic facial features and mental retardation. The literature on this subject has been reviewed and the authors focus on cases of HC with associated anomalies. A pathogenic explanation by somatic mosaicism is proposed.
- Published
- 2005
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133. Two cases of atypical membranous aplasia cutis with hair collar sign: one with dermal melanocytosis, and the other with naevus flammeus.
- Author
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Fujita Y, Yokota K, Akiyama M, Machino S, Inokuma D, Arita K, Kimura C, and Shimizu H
- Subjects
- Female, Humans, Infant, Male, Ectodermal Dysplasia pathology, Hypertrichosis pathology, Melanosis pathology, Port-Wine Stain pathology, Scalp Dermatoses pathology
- Abstract
We report two atypical cases of membranous aplasia cutis surrounded by a rim of hairs, one case associated with dense dermal melanocytosis and the other with naevus flammeus, with characteristic clinical features. A rim of hypertrichosis, 'hair collar' sign, is proposed to have a close association with neuroectodermal defects. A failure of the normal closure of the cranial neural tube might have affected foetal skin development, including melanoblast migration and capillary network formation. The changes in the present cases, as well as the hair collar sign may suggest a complex hamartomatous nature of membranous aplasia cutis.
- Published
- 2005
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- View/download PDF
134. Mental retardation in a boy with anterior cervical hypertrichosis.
- Author
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Corona-Rivera JR, González-Abarca S, Hernández-Rocha J, García-Cruz D, and Corona-Rivera A
- Subjects
- Abnormalities, Multiple genetics, Back, Child, Hallux Valgus pathology, Humans, Karyotyping, Male, Neck, Abnormalities, Multiple pathology, Hypertrichosis pathology, Intellectual Disability pathology
- Abstract
Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis with 15 previously reported cases. ACH has been considered to be a dominant phenotype, either X-linked or autosomal [OMIM 600457]. ACH was associated with hereditary motor and sensory neuropathy (HMSN) in one family, in which the proband also exhibited severe chorioretinal degeneration and optic atrophy, probably as a different entity [OMIM 239840]. A Mexican boy with congenital ACH associated with moderate mental retardation, abnormal EEG, mild microcephaly, hypertrichosis on the back, and hallux valgus is presented here. An equal sex ratio found in 16 reported cases as well as the suggestion of a paternal age effect in one report appear most consistent with an autosomal dominant mode of inheritance for this trait. It remains unclear if isolated ACH, ACH-HMSN, or other associated findings reported in patients with ACH, including unusual features found in our case, are part of ACH or fortuitous associations, due to the small number of affected patients and different ascertainment biases present in previous reports., ((c) 2005 Wiley-Liss, Inc.)
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- 2005
- Full Text
- View/download PDF
135. [Hyperpigmentosis and hypertrichosis of the eyelids after use of bimatoprost eye drops].
- Author
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Modschiedler K, von den Driesch P, and Paus R
- Subjects
- Aged, Amides, Bimatoprost, Cloprostenol analogs & derivatives, Eyelid Diseases pathology, Female, Glaucoma complications, Glaucoma drug therapy, Humans, Hyperpigmentation pathology, Hypertrichosis pathology, Lipids therapeutic use, Ophthalmic Solutions adverse effects, Treatment Outcome, Eyelid Diseases chemically induced, Hyperpigmentation chemically induced, Hypertrichosis chemically induced, Lipids adverse effects
- Abstract
After application of bimatoprost containing eye drops for four weeks, a 72 year-old patient, suffering from glaucoma, developed hyperpigmentation and hypertrichosis of the eyelids. These symptoms can be seen in 1-10% of the patients as side effects in local therapy with bimatoprost, a prostaglandin analogue. The changes persist for varying periods of time but are reversible. Although prostaglandin analogues are sometimes more effective in the reduction of the intraocular pressure than beta-adrenoreceptor blocking agents, they remain second-line choices because of their side effects. This case report is meant to re-stimulate interest in the as yet obscure role of prostaglandins in hair biology, in clarifying the underlying mechanisms, and in exploring the possible therapeutic use of prostaglandin analogues in the management of hair loss (e.g. in androgenetic alopecia) or hair depigmentation (e.g. poliosis, canities).
- Published
- 2005
- Full Text
- View/download PDF
136. Linear congenital Becker nevus.
- Author
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Ro YS and Ko JY
- Subjects
- Biopsy, Needle, Child, Follow-Up Studies, Humans, Hyperpigmentation complications, Hyperpigmentation diagnosis, Hypertrichosis complications, Hypertrichosis pathology, Immunohistochemistry, Male, Nevus, Intradermal complications, Rare Diseases, Upper Extremity, Hyperpigmentation pathology, Hypertrichosis diagnosis, Nevus, Intradermal congenital, Nevus, Intradermal pathology
- Abstract
Becker nevus is an acquired disorder that usually manifests in late childhood or adolescence as a hyperpigmented hypertrichotic patch usually located on the upper trunk or proximal upper extremities. Only a few cases of congenital and familial Becker nevus have been described. Although the lesions may have various shapes, they consistently have a geographic or blocklike configuration in an irregular fashion; a linear pattern has rarely been reported. We describe a case of linear congenial Becker nevus following Blaschko line that appeared at birth on the right shoulder, with hypertrichosis developing 4 years later.
- Published
- 2005
137. Becker's melanosis: a report of 12 cases with atypical presentation.
- Author
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Alfadley A, Hainau B, Al Robaee A, and Banka N
- Subjects
- Adolescent, Adult, Child, Preschool, Epithelium pathology, Female, Hamartoma pathology, Humans, Hypertrichosis pathology, Infant, Infant, Newborn, Male, Melanosis pathology
- Abstract
Becker's melanosis is a distinct clinical entity. It usually presents in adolescence as a unilateral, hyperpigmented, hairy cutaneous hamartoma. We report herein 12 cases of Becker's melanosis that differ in their presentation from classical Becker's melanosis, and we believe that such presentations are not uncommon.
- Published
- 2005
- Full Text
- View/download PDF
138. [Henri the hairy and his sister Antoinette].
- Author
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Faure M
- Subjects
- Female, History, 16th Century, Humans, Hypertrichosis genetics, Hypertrichosis pathology, Italy, Male, Famous Persons, Hypertrichosis history, Paintings history
- Published
- 2005
- Full Text
- View/download PDF
139. Acquired trichomegaly of the eyelashes and hypertrichosis induced by bimatoprost.
- Author
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Herane MI and Urbina F
- Subjects
- Adult, Amides, Antihypertensive Agents administration & dosage, Bimatoprost, Cloprostenol analogs & derivatives, Diagnosis, Differential, Eyelashes pathology, Eyelid Diseases chemically induced, Eyelid Diseases pathology, Female, Humans, Hypertrichosis chemically induced, Hypertrichosis pathology, Lipids administration & dosage, Male, Middle Aged, Ophthalmic Solutions, Antihypertensive Agents adverse effects, Eyelid Diseases diagnosis, Hypertrichosis diagnosis, Lipids adverse effects
- Published
- 2004
- Full Text
- View/download PDF
140. Localized hypertrichosis in subsiding psoriatic plaques.
- Author
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Kumar B, Sandhu K, and Kaur I
- Subjects
- Adult, Arm, Diagnosis, Differential, Humans, Hypertrichosis complications, Hypertrichosis pathology, Leg, Male, Middle Aged, Psoriasis pathology, Hypertrichosis diagnosis, Psoriasis complications
- Published
- 2004
- Full Text
- View/download PDF
141. Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
- Author
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Pöyhönen MH, Peippo MM, Valanne LK, Kuokkanen KE, Koskela SM, Bartsch O, Rasi S, Wiebe GJ, Kähkönen M, and Kääriäinen HA
- Subjects
- Adolescent, Child, Female, Humans, Magnetic Resonance Imaging, Agenesis of Corpus Callosum, Face abnormalities, Hypertrichosis pathology, Intellectual Disability pathology
- Abstract
We report three unrelated patients with hypertrichosis, mild to moderate mental retardation, and dysmorphic facial features including low anterior hairline, thick arched eyebrows, nose with broad tip and columella below alae nasi, short philtrum, thick drooping lower lip and simple posteriorly rotated ears. They also had rough skin with hyperkeratotic plaques. Feet and finger tips were broad. All of them had personality problems like aggressiveness, stubborn temperament or tendency to withdraw. Brain MRI showed thick and short corpus callosum. We believe that these patients represent a new syndrome of unknown aetiology.
- Published
- 2004
142. Porphyria cutanea tarda, hepatitis C, alcoholism, and hemochromatosis: a case report and review of the literature.
- Author
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Sams H, Kiripolsky MG, Bhat L, and Stricklin GP
- Subjects
- Diagnosis, Differential, Hand Dermatoses etiology, Humans, Hypertrichosis etiology, Hypertrichosis pathology, Male, Middle Aged, Porphyria Cutanea Tarda complications, Alcoholism complications, Hemochromatosis complications, Hepatitis C complications, Porphyria Cutanea Tarda diagnosis
- Abstract
Porphyria cutanea tarda (PCT) is associated with estrogen, certain medications, alcohol abuse, hepatitis viruses, and iron overload. Numerous studies have demonstrated an increased incidence of hepatitis C in patients with PCT; therefore, hepatitis screening should be routinely performed on these patients. On the other hand, although studies have long suspected hereditary hemochromatosis (HH) to be an underlying condition of PCT, many physicians have a low index of suspicion. Also, diagnosis of HH has been difficult until recently, when the gene mutation was identified. We present a case of a patient with PCT, hepatitis C, and alcoholism who was homozygous for the HH gene mutation.
- Published
- 2004
143. Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance.
- Author
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Zen PR, Schwartz IV, and Paskulin GA
- Subjects
- Adult, Consanguinity, Diagnosis, Differential, Female, Genes, Dominant, Genes, Recessive, Gingiva pathology, Humans, Hypertrichosis pathology, Mouth Mucosa pathology, Phenotype, Abnormalities, Multiple, Face abnormalities, Hypertrichosis diagnosis
- Abstract
We report a patient with features of acromegaloid facial appearance syndrome and hypertrichosis. Her parental history suggests an autosomal recessive form of inheritance.
- Published
- 2004
- Full Text
- View/download PDF
144. [Obligate paraneoplasias of the skin].
- Author
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Blum A, Röhm S, Grossmann S, and Röcken M
- Subjects
- Acanthosis Nigricans diagnosis, Acanthosis Nigricans pathology, Facial Dermatoses diagnosis, Facial Dermatoses pathology, Hand Dermatoses diagnosis, Hand Dermatoses pathology, Humans, Hypertrichosis diagnosis, Hypertrichosis pathology, Immunosuppression Therapy, Pemphigus diagnosis, Pemphigus pathology, Skin pathology, Paraneoplastic Syndromes diagnosis, Paraneoplastic Syndromes pathology, Skin Diseases diagnosis, Skin Diseases etiology, Skin Diseases pathology, Skin Diseases therapy
- Published
- 2003
- Full Text
- View/download PDF
145. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.
- Author
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Canún S, Guevara-Sanginés EG, Elvira-Morales A, Sierra-Romero Mdel C, and Rodríguez-Asbun H
- Subjects
- Abnormalities, Multiple genetics, Child, Female, Humans, Infant, Karyotyping, Abnormalities, Multiple pathology, Face abnormalities, Gingival Hyperplasia pathology, Hypertrichosis pathology
- Abstract
Congenital generalized hypertrichosis terminalis has been described in association with other features as gingival hyperplasia, osteochondrodysplasia, and a dysmorphic face. Bondeson and Miles [1993: Am J Med Genet 47:198-212] described a woman with universal congenital hypertrichosis terminalis associated with gingival hyperplasia; the face of this patient was coarse and different from other forms of hypertrichosis described before. We present an 11-year, 6-month-old girl with universal congenital hypertrichosis terminalis, gingival hyperplasia, and a characteristic coarse face resembling the patient described by Bondeson and Miles [1993: Am J Med Genet 47:198-212]. We propose that this type of congenital generalized hypertrichosis terminalis, associated with gingival hyperplasia and a coarse face, is a distinctive new entity., (Copyright 2002 Wiley-Liss, Inc.)
- Published
- 2003
- Full Text
- View/download PDF
146. Segmental odontomaxillary dysplasia. Report of two cases and review of the literature.
- Author
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Velez I, Vedrenne D, Cralle P, and Yap S
- Subjects
- Adolescent, Child, Preschool, Dental Enamel Hypoplasia pathology, Facial Dermatoses pathology, Female, Gingival Hyperplasia pathology, Humans, Hyperpigmentation pathology, Hypertrichosis pathology, Male, Maxilla abnormalities, Bone Diseases, Developmental pathology, Maxillary Diseases pathology, Odontodysplasia pathology
- Abstract
Segmental odontomaxillary dysplasia is a rare childhood disorder. The condition affects bone growth and maturation and causes maldevelopment of the ipsilateral teeth and gingiva. Lips and skin also may be affected. The purpose of this article is to describe two cases of segmental odontomaillary dysplasia and summarize the clinical and radiographic findings if the entity after a thorough review of the English literature.
- Published
- 2002
147. Split cord malformation in two sisters.
- Author
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Erşahin Y, Kitiş O, and Oner K
- Subjects
- Child, Female, Humans, Magnetic Resonance Imaging, Spinal Cord surgery, Foot Deformities pathology, Hypertrichosis pathology, Siblings, Spinal Cord abnormalities, Spinal Cord pathology
- Abstract
Split cord malformations (SCMs) are uncommon congenital spinal anomalies and are seen mostly in females. SCMs in siblings are extremely rare. We report two sisters with SCM. These 10- and 8-year-old girls were the first and second children, respectively, of nonconsanguineous parents. Both sisters had a hypertrichosis and pes cavus deformity. The first child had a type I SCM and the second a type II SCM. They had additional spinal lesions, with tethering of the spinal cord. They were operated on and showed an uneventful postoperative course. All reported siblings with SCM have been female. The present data are not sufficient to account for the sex predilection. Therefore, further data and knowledge are needed., (Copyright 2002 S. Karger AG, Basel)
- Published
- 2002
- Full Text
- View/download PDF
148. Inherited hypertrichoses.
- Author
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Garcia-Cruz D, Figuera LE, and Cantu JM
- Subjects
- Genetic Diseases, Inborn genetics, Humans, Hypertrichosis genetics, Hypertrichosis pathology
- Abstract
Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late-onset, generalized, localized, inherited or acquired. More than 50 different OMIM entries related to hypertrichosis exist, few of them with a localized gene locus or with a candidate gene. The review of generalized hypertrichoses from a historical point of view, including a review of their clinical and genetic features, shows heterogeneity with at least nine different entities. A short analysis of other forms of hypertrichosis is presented.
- Published
- 2002
- Full Text
- View/download PDF
149. Congenital generalized terminal hypertrichosis with gingival hyperplasia.
- Author
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Guevara-Sanginés E, Villalobos A, Vega-Memije ME, Mosqueda-Taylor A, Canún-Serrano S, and Lacy-Niebla RM
- Subjects
- Child, Female, Gingival Hyperplasia complications, Gingival Hyperplasia surgery, Humans, Hypertrichosis complications, Hypertrichosis pathology, Gingival Hyperplasia congenital, Hypertrichosis congenital
- Abstract
Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congenital generalized hypertrichosis and gingival hyperplasia, and analyze the clinical approach, differential diagnosis, and treatment.
- Published
- 2002
- Full Text
- View/download PDF
150. Faun tail: a rare cutaneous stigma of spinal dysraphism.
- Author
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Kaya TI, Kokturk A, Guleryuz A, Bagdatoglu C, and Ikizoglu G
- Subjects
- Adolescent, Female, Humans, Hypertrichosis pathology, Spinal Dysraphism pathology, Hypertrichosis etiology, Spinal Dysraphism complications
- Published
- 2002
- Full Text
- View/download PDF
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