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Introduction: Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children., Methods: Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women's and Children's Hospital were collected and analyzed retrospectively., Results: The mean age of the patients was 5.7 (standard deviation [SD] = 3.9) years old, and there were 2 age peaks (≤1 year old, 5-11 years old) and 2 age valleys (2-4 years old, ≥12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients' disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume was 0.6 (SD = 1.0) cm3, and 81.3% of the patients' tumor volume ≤1.0 cm3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients (p > 0.05). The age and tumor volume of the patients in different body parts were significantly different (P1 = 3.10E-05 and P2 = 5.60E-05, respectively). The correlation between the disease course and tumor volume was positively significant (p ≤ 0.05). There was a significant correlation between the disease course and tumor volume in patients with tumors at upper limbs (p = 0.03)., Conclusion: The age of children with pilomatrixoma presented 2 peaks and 2 valleys. Most patients had disease courses in 24 months and with tumor volumes ≤1.0 cm3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck were the most common distribution sites of pilomatrixoma, and shadow cells and basaloid cells were the most common pathological features. The tumor volume was positively correlated with disease course in patients with pilomatrixoma., (© 2024 S. Karger AG, Basel.)

Scalp dermoscopy or `trichoscopy' represents a valuable, noninvasive technique for the evaluation of patients with hair loss that allows for magnified visualization of the hair and scalp skin. It may be performed with a manual dermoscope (×10 magnification) or a videodermoscope (up to ×1,000 magnification). In particular, trichoscopy enhances the diagnosis of androgenetic alopecia, alopecia areata, telogen effluvium, trichotillomania, congenital triangular alopecia, scarring alopecia, tinea capitis and hair shaft disorders. This method is simple, quick and easy to perform, reduces the need for scalp biopsy, is well accepted by patients, and is useful for monitoring treatment and follow-up., (© 2015 S. Karger AG, Basel.)

Inverted follicular keratosis (IFK) is a rare benign tumor which usually appears as a firm papule on the face. The diagnosis is generally made by histopathology because the clinical appearance is difficult to differentiate from other lesions. Dermoscopic features of IFK have not been established to date. Herein we describe the dermoscopic findings of 4 cases of IFK. Radial peripheral hairpin vessels surrounded by a whitish halo arranged around a central white-yellowish amorphous area were observed in 3 cases, and glomerular vessels were present in the central area of one of them. The fourth case also presented a central white amorphous area but showed arborizing vessels. Reflectance confocal microscopy (available in 1 case) revealed a broadened honeycomb pattern, epidermal projections and hairpin and glomerular vessels. To our knowledge this is the first case series describing the dermoscopic features of inverted follicular keratosis and the first confocal microscopy description of this entity.

Background: Multiple cutaneous piloleiomyomas are rare, frequently painful and difficult-to-treat benign tumours originating in the arrectores pilorum muscles of the hair follicles., Objective: The aim of this study was to determine the efficacy of a local injection of triamcinolone acetonide in relieving cutaneous piloleiomyoma-related pain., Methods: A patient with multiple painful piloleiomyomas was treated with weekly local injections of triamcinolone acetonide into the nodules and papules for 3 weeks., Results: The patient's nodules and papules became smaller, and the pain disappeared. At 1-year follow-up, there were no side effects, pain recurrence or significant enlargement of any of the injected lesions., Conclusion: Our study demonstrates that local injection of triamcinolone acetonide may be a promising new treatment option for multiple painful cutaneous piloleiomyomas.

Objective: To review the cytologic features of trichoblastoma in order to define criteria that may aid in identification of these tumors at the time of aspiration and allow a definitive diagnosis., Study Design: A 58-year-old male presented with a mass lesion on the thigh. On fine needle aspiration, the patient was diagnosed as having a benign skin adnexal tumor. Histology showed the presence of a trichoblastic fibroma, and a retrospective analysis of the cytology was performed., Results: The cytologic features of trichoblastoma resembled a cellular fibroadenoma/phyllodes tumor on aspiration, not previously described in the literature. If the cytomorphology of a skin or subcutaneous aspirate appears to resemble that of a fibroadenoma, the diagnosis of a trichoblastoma should be entertained. Peripheral palisading of nuclei at the edges of the basaloid cell sheets and squamous eddy formation are clues to the diagnosis but may be very focal and could be overlooked. If the tumor occurs in the region of the breast, distinction from a fibroadenoma would be difficult if these additional features were not prominent., Conclusion: Knowledge of the cytologic features of trichoblastoma will allow correct management of the patient and prevent misdiagnosis as other benign or malignant tumors.

Objective: To review the cytologic features of pilomatrixoma to allow a definitive diagnosis at the time of aspiration and correct patient management., Study Design: Three patients each presented with a mass lesion and on fine needle aspiration were diagnosed as either having pilomatrixoma or a benign skin adnexal tumor. The diagnosis was confirmed on histology. A retrospective analysis of the cytology was performed., Result: The most consistent and predominant features for diagnosis were basaloid cells, anucleate squamous cells and calcification in an inflammatory background, often with giant cells. Only focal evidence of true shadow or "ghost" cells was seen in one case on the Diff-Quik smear. Therefore, lack of shadow cells does not preclude correct diagnosis in the presence of the other relevant cytologic features. If all the major components of pilomatrixoma are present in an aspirate, the diagnosis should not be problematic. However, if one component predominates, this may lead to an erroneous diagnosis of other benign and malignant lesions., Conclusion: Knowledge of the cytologic features of pilomatrixoma will allow correct patient diagnosis and management.

Background: To the best of our knowledge, no specific dermoscopic criteria have been described in the medical literature for the diagnosis of pilomatricomas., Objectives: To evaluate the morphological findings of pilomatricomas under dermoscopic observation., Material and Methods: Dermoscopic examination (using the Dermlite Foto; 3Gen, LLC, Dana Point, Calif., USA) of 10 patients with pilomatricomas was performed to evaluate specific dermoscopic criteria and patterns., Results: The most frequently occurring dermoscopic features were found to be: irregular white structures (80%) and white streaks (70%); vascular structures in all lesions (reddish homogeneous area in 90%, hairpin vessels in 70%, linear-irregular vessels in 70% and dotted vessels in 40%); ulceration (60%), and structureless gray-blue areas in 20% of cases. The results of our study reveal that the absence of specific dermoscopic criteria for other skin tumors and the presence of irregular white structures and polymorphous/atypical vessels is the most frequent dermoscopic pattern in pilomatricomas., Conclusions: Dermoscopy may be a useful tool for improving the recognition of pilomatricomas. However, dermoscopy does not assure 100% diagnostic accuracy and pilomatricomas may represent in some cases, above all in elderly patients, a dermoscopic pitfall, being difficult to differentiate dermoscopically from other lesions, such as melanoma or basal cell carcinoma., (Copyright 2008 S. Karger AG, Basel.)

Background: Pilomatrixoma (pilomatrixoma, calcifying epithelioma of Malherbe) is a relatively uncommon, benign neoplasm arising from the skin adnexa. The tumor can cause diagnostic difficulty not only for the clinician but also for the cytologist., Case: A 62-year-old woman presented with a right submandibular swelling of 4 months' duration. The clinical findings were highly suspicious for malignancy. A fine needle aspiration biopsy was performed. Three preliminary differential diagnoses were offered: mucoepidermoid carcinoma of the submandibular salivary gland, squamous cell carcinomatous deposit in a submandibular lymph node and calcifying odontogenic tumor. Computed tomography demonstrated no bony lesion. No primary site of squamous cell carcinoma could be identified. An excisional biopsy of the swelling was performed, and the histologic diagnosis of pilomatrixoma was made., Conclusion: The cytologic presentation of pilomatrixoma of the right submandibular region can masquerade as that of a malignant tumor, in this case mucoepidermoid carcinoma, squamous cell carcinoma or odontogenic tumor. This case delineates the cytomorphologic features of pilomatrixoma that may mimic carcinoma.

Background: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI., Objective: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development., Methods: In an infant with extensive erythroderma, peeling skin and failure to thrive, we analyzed the SPINK5 gene for pathogenic mutations by direct DNA sequencing and performed repeated brain MRI studies with diffusion-weighted imaging., Results: We identified a homozygous 4-base-pair insertion in exon 5 of SPINK5, which introduces a premature termination codon and appears to be a common mutation among West Indies islanders. MRI analyses revealed a persistent diffuse volume loss., Conclusion: Our results confirm that early truncation mutations of the coding sequence of SPINK5 produce a severe phenotype and that generalized peeling skin is one of the manifestations of NTS. We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain., (2005 S. Karger AG, Basel)

Two cases of eruptive vellus hair cysts associated with chronic renal failure are reported. Histologically the lesions of both cases showed cystic structures in the dermis lined by squamous epithelium which contained varying amounts of vellus hair shafts. Immunohistochemical studies using monoclonal anti-AGE (advanced glycation end product) antibody demonstrated that keratinous materials within the cystic structures were immunoreactive to the antibody, whereas those of cystic lesions (epidermal cyst, eruptive vellus hair cyst, steatocystoma multiplex, trichofolliculoma and trichilemmal cyst) seen in otherwise healthy individuals were negative. Because it has been reported that plasma and skin levels of AGE are elevated in renal failure patients, AGE-modified keratinous materials may be associated with the formation of cystic structures by stimulating the occlusion of the epithelium., (Copyright 2004 S. Karger AG, Basel)

We describe a unique case of various types of basal cell carcinoma (BCC) associated with basaloid follicular hamartoma (BFH) in a 56-year-old female patient. The lesion consisted of a dark brown and elastic soft nodule and papules within the area of a birthmark on the neck. The lesion was surgically excised. Histological examination of the nodular region revealed aggregations of neoplastic basaloid cells. We diagnosed the nodule as BCC with a racemiform or reticular pattern. In addition, a specimen taken from brownish black papules within the birthmark was found to be composed of anastomosing cords of basaloid cells accompanied by infundibular cystic structures. These features were consistent with an infundibulocystic BCC. In contrast, specimens from a hamartomatous plaque showed distinctive branching strands of basaloid cells that are suggestive of BFH. Therefore, our findings indicate that several types of BCC may develop within a BFH., (Copyright 2003 S. Karger AG, Basel)

Multiple hair follicle nevi are an extremely rare condition. In 1998, a case of unilateral multiple hair follicle nevi, ipsilateral alopecia and ipsilateral leptomeningeal angiomatosis of the brain was first reported from Japan. Very recently, hair follicle nevus in a distribution following Blaschko's lines has also been reported. In this paper, we observed a congenital case of unilateral, systematized linear hair follicle nevi associated with congenital, ipsilateral, multiple plaque lesions resembling epidermal nevi but lacking leptomeningeal angiomatosis of the brain. These cases implicate the possibility of a novel neurocutaneous syndrome. Additional cases should be sought in order to determine whether this condition is pathophysiologically distinct., (Copyright 2003 S. Karger AG, Basel)

Five pilomatrixomas with anetodermic cutaneous changes are presented. Four large tumors revealed soft, atrophic, pink translucent skin covering a firm subcutaneous mass, and their appearance was similar to that of a keloid or hypertrophic scar. One small tumor revealed soft, slightly atrophic, reddened or purplish skin covering a firm subcutaneous mass: its clinical appearance was similar to that of a hematoma or minor infection. Histopathological examination of the skin showed atrophic and edematous changes in the dermis associated with diminished fragmented collagen and absent elastic tissue. It is supposed that the dermal atrophic appearance bears a relation to the loss of elastic fibers and the dermal edema is related to the leakage of lymphatic fluid. Both phenomena may be caused by continuous pressure from the outside, as these anetodermic pilomatrixomas were located where they were apt to be exposed to mechanical irritation., (Copyright 2003 S. Karger AG, Basel)

A hard deep nodule, 6 x 3 mm in size, was excised from the cheek of a 12-year-old girl. The histological sections showed a multinodular cyst-like proliferation, each nodule showing the typical structure and cytology of pilomatrixoma. A comparison is made between this case and the budding phenomenon that has been described in isthmus-catagen (tricholemmal) cyst., (Copyright 2002 S. Karger AG, Basel)

Follicular mycosis fungoides (FMF) is an unusual clinical and histological variant of MF, characterized by selective involvement of hair follicles by atypical lymphocytes. We describe a female patient who had follicular papules located only on the medial aspect of her right thigh. To the best of our knowledge, this patient represents the first reported case of unilesional FMF.

Background: Fine needle aspiration (FNA) diagnosis of pilomatrixoma is rare. The cytologic presentation can be mistaken for squamous cell carcinoma because of high cellularity, high nuclear/cytoplasmic ratio and presence of anucleate squames., Case: A 25-year-old male presented to Cook County Hospital with a slowly enlarging neck mass of three months' duration. FNA was interpreted as consisted with pilomatrixoma. Subsequently the patient had the mass removed. Histology confirmed the diagnosis of pilomatrixoma., Conclusion: The wide range of cell differentiation in conjunction with pertinent clinical findings, absence of nuclear atypia, tumor diathesis, mitotic figures and awareness of the entity lead to the correct diagnosis of pilomatrixoma.

Background: Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are conditions characterized by numerous cutaneous cysts with a clinical resemblance, such as age of onset, location, appearance of the lesions and mode of inheritance, but with distinctive histologic features. Recently, some authors have proposed that the two conditions are variants of one entity originating in the pilosebaceous duct, while others suggest that SM and EVHC are two distinct entities, on the basis of the different expression of keratins. Milia are small round cysts, commonly involving the face. In 1994, Menni and Piccinno reported the first association, in a family, between persistent infantile milia in a 9-month-old girl and SM in the father. The authors hypothesized a relationship between these two conditions., Objective: We describe a family in which the mother showed cystic lesions and milia and her 4-year-old son and her 18-month-old daughter presented persistent infantile milia., Methods: In addition to the clinical and genetic documentation, a biopsy was performed in the son and two biopsies in the mother., Results: The histologic examination of one of the son's milium-like papules showed in the superficial dermis a small cyst typical of a milium. In serial sections it was possible to see a connection with a vellus hair follicle by an epithelial pedicle. The histologic examination of one of the mother's papules on the forehead showed a large round cystic structure with histologic features of EVHC. Close to the cyst wall, serial sections showed flattened sebaceous gland lobules. The histologic findings of the second biopsy taken from the chest showed the typical features of a steatocystoma., Conclusions: The relationship between milia, SM and EVHC is discussed; the three disease should be considered as subtypes of multiple pilosebaceous cysts that may all present overlapping histologic features. The different level of the pilosebaceous duct where the cyst originates should explain the different clinical manifestations.

We report on 4 elderly patients aged 54-85 years with histopathologically diagnosed pilomatricoma who had been seen in our department from 1993 to 1997. Pilomatricoma is a rather uncommon neoplasm in middle-aged and old patients. It is much better known in children. Here, we clinically studied these 4 cases of pilomatricoma in elderly patients (above 50 years of age) to show the variety of clinical differential diagnosis and discuss the clinicopathological features. The results of the present study indicate that the differential diagnosis of pilomatricoma should also be considered in elderly individuals.

Objective: To characterize the cytomorphologic features of pilomatrixoma., Study Design: Aspirate findings in nine cases of PMX were correlated with clinical data and subsequent histology. This relatively large volume of case material afforded an opportunity to test the cytologic criteria that have been proposed as diagnostic of pilomatrixoma in the case reports published previously., Results: Ghost cells, basaloid cells and calcium deposits were the features found to be most characteristic of PMX and were observed in all four cases in which a correct diagnosis was made originally., Conclusion: The presence of ghost cells seems to be the key to recognizing PMX. These cells are visible in the majority of air-dried smears but seldom in alcohol-fixed smears. Adequate cytologic sampling and the routine use of both wet-fixed and air-dried smears should preclude an incorrect diagnosis.

Steatocystoma multiplex (SM) and eruptive vellus hair cyst (EVHC) are known as clinically similar but histologically distinct entities, first described by Jamieson in 1873 and Esterly et al. in 1977, respectively. Herein we describe a 24-year-old female patient with both lesions on the anterior chest wall. The biopsy showed portions of two cysts close together with features of SM in one part and features of EVHC in the other part. Our case gives further evidence that these two conditions are closely related. To the best of our knowledge this is the first case where such an anatomically close relationship between these two types of cysts has been described.

An 18-year-old woman with a proliferating trichilemmal cyst arising in her arm is described. Histological examination revealed typical features. This is the second reported case of such a site. Our case is unusual both in age and location.

Separate analysis and quantitative determination of the viscous and elastic parameters of hair performed in 5 patients with trichothiodystrophy and in 20 sex- and age-matched control subjects revealed an abnormal pattern of the mechanical behavior of trichothiodystrophic hair. The change of the viscous parameter is probably associated with the profound alterations in the high-sulfur proteins of the interfilamentary matrix; the changes in the elastic parameters may be related to the reduced stability of the irregularly arranged microfibrils of trichothiodystrophic hair caused by the marked reduction of the disulfide cross-links.

The cell kinetics of anagen scalp hair bulbs taken by punch biopsies from healthy male volunteers (n = 50) were determined at defined bulbar hair segments using microdissection and DNA flow cytometry. The highest proliferative activity (S phase) was measured within the lower most bulbar segment (14.0%) but decreased to the Auber's segment (7.6%) and to the isthmus segment (5.9%). The results support histoautoradiographic data demonstrating most of the proliferative activity in the hair bulb below the Auber's level [1]. Furthermore, cell kinetic data of dissected anagen hair bulbs segmented at Auber's level from an androgen-sensitive scalp area were studied in male pattern baldness (n = 15, Hamilton IV) and hirsutism (n = 13). The results revealed a significant increase of S phase cells in male pattern baldness (8.9%) compared to healthy males (n = 10, 7.9%) as well as in hirsutism (10.2%) compared to healthy females (n = 10, 7.5%). In hirsutism the percentages of S phase cells ran parallel to the plasma levels of dehydroepiandrosterone sulfate whereas no correlation to testosterone could be proved. Similar, 6 hypothyroid and 6 hyperthyroid patients were studied. In hyperthyroidism an increase of S phase values (10.3%) was found, while it decreased in hypothyroidism (6.1%). A correlation between the height of S phase and plasma triiodothyronine level was noted. Our studies demonstrate that DNA flow cytometry is a suitable method for the evaluation of physiological or hormonal influences on cell cycle kinetics of human anagen hair bulbs in vivo.

We describe a new case of isolated trichothiodystrophy. This entity is characterized by sparse and brittle hair, low sulfur hair content, tiger tail pattern of the hair under polarizing microscopy, clean transverse fractures through the hair shaft and absent or defective hair cuticles. To our knowledge there are only two reported cases of isolated trichothiodystrophy without associated additional ectodermal or neuroectodermal dysplasias. Polarized microscopy of cut hair showed transverse fracture points (trichoschisis) and alternating dark and bright bands. Low sulfur content of the hairs was confirmed by amino acid analysis. Many acronyms and eponyms have been created to describe sulfur-deficient brittle hair associated with neuroectodermal abnormalities, leading to confusion. We suggest to use a simple classification scheme, according to increasing severity of associated features as proposed by Van Neste.

Uncombable hair syndrome refers to a clinical disorder characterized by scalp hairs arranged in bundles in all directions that resist to brush and comb. Several entities may lead to spun-glass hair. As a rule the syndrome becomes obvious during the first years of life. The hair is normal in quantity, and increased fragility is not a common feature. The hair is often dry with silvery blond color. Under the light microscope the hairs may appear normal. Scanning electron microscopy shows a characteristic triangular, kidney- or heat-shaped diameter with typical longitudinal canalicular deformation. We present a 9-year-old girl with the typical clinical features of pili trianguli et canaliculi. Investigation by scanning electron microscopy confirmed the diagnosis. In addition the girl had enamel defects of the teeth and nail abnormalities that classify for a subtype of ectodermal dysplasia.

We present a case of hair follicle nevus, a rare hamartoma composed of vellus hair follicles. Hair follicle nevus should be differentiated from accessory auricle, trichofolliculoma and hair nevus.

The published 9th case of circumscribed pilary dysembryoplasia of the palms is presented. Differences between this case and Becker's pigmented hair nevus, congenital smooth muscle hamartoma, circumscribed acquired hypertrichosis and pigmented nevus are discussed.

We report on a 4 1/2-year-old girl affected by loose anagen hair and Noonan's syndrome. The girl had short, blond, easily pluckable hair that had never been cut. The trichogram showed an absolute prevalence of abnormally shaped anagen bulbs lacking inner and outer root sheaths. A scalp biopsy evidenced a marked cleft formation between fragmented inner root sheaths and irregularly shaped hair shafts.

Hair casts are small cylindrical structures, encircling individual scalp hairs but easily movable along the involved hair shafts. This hair disorder of unknown pathogenesis is only rarely mentioned in the dermatologic literature. We report the case of a 5-year-old girl, who has been treated during 2 years for pediculosis capitis. The literature about hair casts is reviewed.

A black girl with the Rothmund-Thomson syndrome is presented. Immunophenotyping of subpopulations of immunocompetent cells in a biopsy of an atrophic hyperpigmented skin lesion revealed sparsity and unusual distribution of epidermal Langerhans cells. These cells were mainly located in the basal layer of the epidermis and did not show the usual dendritic pattern. Impressive immunoreactivity of the dermal infiltrate was observed by anti-HLA-DR staining. The changes in Langerhans cell morphology and distribution may indicate functional impairment of the up-regulating arm of skin immunity.

Peripilar hair casts are a pathological occurrence which is probably greater than the few reports seem to suggest. In 2 patients the authors have found fine, whitish nodular accretions of epithelial cells and keratinous debris surrounding the hair shafts of the scalp over a length of 3--7 mm located at various distances from the base of the hair along which they can freely move. Long-term or repetitive tractions incidental to modern hair styling or a moderate trichotillomania due to anxiety for hair loss are probably the causative factors.

We are reporting on a 22-year-old female patient with typical Netherton's syndrome who responded to photochemotherapy with the application of 8-MOP solution and irradiation with UVA. After two or three courses of PUVA therapy, each requiring 1 week, the skin condition improved. Maintenance photochemotherapy was necessary. Because there was a similarity between psoriasis and our case in the histological findings, this modality may be justified. No side effects were observed.

A late-onset, sporadic case of multiple fibrofolliculomas and trichodiscomas is reported. This case and other reports in the literature suggest to the authors that benign neoplasms derived from the mesodermal component of the pilar apparatus may present in various combinations and may also be associated with other hamartomatous skin proliferations. The wide spectrum of published combinations may be due to similarities in clinical presentation and biopsy-sampling uncertainties.

A comparative examination of the hair of the members of a family with monilethrix was carried out. Scanning electron microscopy (SEM) was used in the examination. It could be shown that the hair of persons with monilethrix showed a clear irregularity in its surface structure. A corresponding pattern was found in the clinically healthy sister and the likewise healthy father. The surface of the mother's hair showed a normal condition. The cuticle of the monilethrix appears to be very soft. The SEM method permits more exact examinations concerning the heredity of monilethrix.

17 cases of epidermoid cysts with vellus hairs in their lumen are reported. The clinical diagnosis was usually cysts. In 12 cases the lesions were solitary and in 5 they were multiple, small and closely set. Microscopically, the findings of the wall were those of the epidermoid cyst containing in their lumen hair shafts of lanugo size. The solitary variety of these cysts can be considered as the solitary counterpart of the eruptive vellus hair cyst. Problems of differential diagnosis are discussed.