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Background: Central centrifugal cicatricial alopecia is the most common form of cicatricial alopecia in African American women. Treatment options are limited and mostly aimed at halting further hair loss but rarely result in hair regrowth. Therefore, it is important to recognize early clinical signs, perform a confirmatory biopsy, and begin treatment promptly. We have observed that hair breakage may be a key sign of early central centrifugal cicatricial alopecia, and this association is not clearly described in the literature., Observations: Nine patients with hair breakage on the vertex with or without scalp symptoms underwent scalp biopsies as part of their evaluation. Of these, 8 had histologic samples adequate for complete interpretation: 5 specimens (63%) showed histologic changes typical of central centrifugal cicatricial alopecia, with 1 of these showing advanced end-stage changes of cicatricial alopecia. Two (25%) revealed premature desquamation of the inner root sheath as the sole finding suggestive of early central centrifugal cicatricial alopecia and 1 (13%) was normal., Conclusions: Although hair breakage can have multiple causes, early central centrifugal cicatricial alopecia must be considered in the differential diagnosis, particularly in women of African ancestry. Histologic evaluation may reveal early or late findings that can help establish the diagnosis.

Background: Several forms of ichthyosis are associated with neurologic manifestations, including Sjögren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. We report a case of X-linked steroid sulfatase deficiency, ichthyosis, seizures, abnormal hair banding pattern, and unilateral polymicrogyria., Observations: A 3-year-old Caucasian male with a history of ichthyosis since birth presented with generalized tonic seizures. Findings from a physical examination were remarkable for thin hair, retinitis pigmentosa, and poor dentition. Polarized light microscopic examination of all the hair samples demonstrated a banding pattern. Magnetic resonance imaging of the brain revealed left hemispheric polymicrogyria with decreased sulcal pattern and stable asymmetric dilation of the left lateral ventricle. Constitutional microarray revealed the typical approximately 1.5-Mb deletion of the steroid sulfatase gene., Conclusions: Steroid sulfatase deficiency is a cause of X-linked ichthyosis; however, our patient also had retinitis pigmentosa, seizures, and abnormal hair findings. The presence of abnormal hair with a banding pattern on polarized microscopy may be helpful for diagnosis; however, this pattern is not specific to this disease. In addition, to our knowledge, the presence of a malformation of cortical development has not been previously reported in patients with steroid sulfatase deficiency.

Background: Distinguishing chronic telogen effluvium (CTE) from androgenetic alopecia (AGA) may be difficult especially when associated in the same patient., Observations: One hundred consecutive patients with hair loss who were clinically diagnosed as having CTE, AGA, AGA + CTE, or remitting CTE. Patients washed their hair in the sink in a standardized way. All shed hairs were counted and divided "blindly" into 5 cm or longer, intermediate length (>3 to <5 cm), and 3 cm or shorter. The latter were considered telogen vellus hairs, and patients having at least 10% of them were classified as having AGA. We assumed that patients shedding 200 hairs or more had CTE. The kappa statistic revealed, however, that the best concordance between clinical and numerical diagnosis (kappa = 0.527) was obtained by setting the cutoff shedding value at 100 hairs or more. Of the 100 patients, 18 with 10% or more of hairs that were 3 cm or shorter and who shed fewer than 100 hairs were diagnosed as having AGA; 34 with fewer than 10% of hairs that were 3 cm or shorter and who shed at least 100 hairs were diagnosed as having CTE; 34 with 10% or more of hairs that were 3 cm or shorter and who shed at least 100 hairs were diagnosed as having AGA + CTE; and 14 with fewer than 10% of hairs that were 3 cm or shorter and who shed fewer than 100 hairs were diagnosed as having CTE in remission., Conclusion: This method is simple, noninvasive, and suitable for office evaluation.

Background: Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant disorder clinically characterized by sparse and slow-growing hair, pear-shaped nose, elongated philtrum, thin upper lip, and bone deformities, in particular, cone-shaped epiphyses of the phalanges. Very recently, the responsible gene TRPS1 has been cloned on human chromosome 8q24., Observation: We describe a mother and her 2 daughters and a female patient with a sporadic case of TRPS I. In the familial case, mutation analysis showed an insertional mutation at position 2480 of the TRPS1 gene leading to a premature translational stop. Careful clinical examination showed craniofacial and radiologic features typical of TRPS I, including short stature, in all 3 affected individuals. Additionally, they presented with a receded triangular medio-occipital hairline, which has not been described in TRPS I so far. In the sporadic case, we identified a single base deletion at position 2110 of the TRPS1 gene leading to frameshift and premature translational stop at codon 766. The patient presented with the typical TRPS I phenotype but was of normal stature., Conclusions: The TRPS I is characterized by variable clinical expression of the triad of hair, craniofacial, and skeletal abnormalities. New genetic approaches, including mutation analysis, now allow identification of carriers of the TRPS1 gene mutations.

Background: The degree of androgenetic alopecia is generally evaluated either by global clinical scales or time-consuming methods like phototrichogram or histological studies. We describe a new clinical and reliable scoring method based on hair diameter diversity., Observations: (1) The clinical macroscopic scoring we propose for hair density was significantly correlated with Hamilton classification and with histological hair density. (2) Diversity in hair diameter was the main and most accurate clinical parameter linked to follicle miniaturization. (C) The anagen-telogen ratio decreased in parallel with the decrease in clinical hair density score., Conclusions: Considering that hair follicle miniaturization is the key point during androgenic alopecia onset and development, diversity in hair diameter represents an important feature to consider as an accurate clinical sign reflecting hair follicle miniaturization. Moreover, diversity in hair diameter seems to be an easily accessible and reliable parameter that should be taken into consideration for further characterization of hair disorders. By itself, we believe that this clinical feature constitutes a new tool of substantial help for the diagnosis and management of androgenic alopecia.

Objective: To better define the pathogenesis of acne keloidalis (AK)., Design: Prospective, blinded study of histologic material collected from 10 patients with clinically typical AK., Setting: Outpatient dermatology clinic of a military tertiary care medical center., Patients: Ten male volunteers 18 years or older with early AK lesions (1- to 4-mm firm papules on the lower occipital/nuchal region)., Data Source: Biopsy specimens from small, early lesions and from clinically uninvolved skin, studied histologically with transverse sectioning., Intervention: Three separate 4-mm punch biopsy specimens of the scalp (lesional, perilesional, and "normal" scalp) were obtained from each volunteer. The specimens were processed using transverse sectioning., Main Outcome Measures: The primary variables for data analysis were the presence or absence of the following histologic features: premature loss of the inner root sheath; eccentric placement of shaft, with thinning of the outer root sheath; lamellar fibroplasia surrounding the follicle; loss of sebaceous glands; evidence of follicular destruction or scarring; inflammation; and intrafollicular or perifollicular microorganisms. The number and type of hairs were also recorded., Results: The most common findings in the 19 histologically abnormal specimens were perifollicular, chronic (lymphocytic and plasmacytic) inflammation, most intense at the level of the isthmus and lower infundibulum; lamellar fibroplasia, most marked at the level of the isthmus; complete disappearance of sebaceous glands, associated with inflamed or destroyed follicles; thinning of the follicular epithelium, most marked at the level of the isthmus; and total epithelial destruction (superficial and deep), with residual "naked" hair fragments. Even some "normal" specimens contained true follicular scars, demonstrating that normal-appearing scalp skin had previously been affected by the disease., Conclusions: Acne keloidalis is a primary form of scarring alopecia, and many of the histologic findings closely resemble those found in certain other forms of cicatricial alopecia. Extensive subclinical disease may be present in patients with AK and can account for some of the permanent hair loss. Overgrowth of microorganisms does not appear to play an important role in the pathogenesis of the disease. There is no etiologic relationship between AK and pseudofolliculitis barbae. Therapies found to be useful in other forms of inflammatory scarring alopecia are useful in the treatment of early AK.

Objective: To review clinical and pathologic features and the long-term follow-up of patients with loose anagen hair (LAH)., Design: Clinical evaluation and long-term follow-up., Setting: A university medical center., Patients: Beginning in January 1990, 14 children and 5 adults (age range, 8 months to 47 years) were diagnosed as having LAH. Associated diseases included alopecia areata in a 3-year-old boy and Noonan syndrome in a 5-year-old boy. Two adult patients were parents of 2 affected children; the other 3 adults were the only members of their families with LAH. These 3 patients presented with a diffuse hair shedding that had suddenly developed 1 to 3 years before our observation. In all cases, findings of a trichogram showed a predominance of anagen hairs (80% to 100%) devoid of sheaths., Intervention: None., Results: In 4 children and 1 adult the condition remained stable; in 2 children and 1 adult, a considerable improvement in hair density was noticed. The pathologic study of hair from 5 patients did not reveal morphological abnormalities of the hair follicles except for a high incidence of fragmentations of the inner root sheath., Conclusions: Analysis of our patients with LAH reveals that the condition does not develop exclusively during childhood but can occasionally manifest itself later in life. The development of LAH may be sporadic, occur in association with developmental or acquired conditions, or, less commonly, be a familial disorder. While adult-onset LAH may not be exceptional, it can be easily misdiagnosed as telogen hair loss. The pathologic findings of LAH do not demonstrate any specific features and are of little value in the diagnosis of this condition.

Background: Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis. The X-linked recessive form of HED, also known as Christ-Siemens-Touraine syndrome, is the most frequent and widely documented form. A clinically identical autosomal recessive form of HED has also been described. Because of the X-linked mode of inheritance, nearly all observations have concerned pedigrees of predominantly male affected patients. We present a rare isolated affected female child with a mosaic expression of HED. We attempted to assess the mode of inheritance in our case., Observations: We documented the characteristic clinical appearance in our proband, as well as the scanning electron microscopic findings regarding the hair. The starch-iodine test results in this patient revealed the clinical expression of HED in a mosaic fashion, running along the Blaschko lines., Conclusions: The starch-iodine test results proved to be useful in the assessment of carriers of X-linked HED, and our proband was considered to an isolated affected female with a mosaic expression of HED.

Background and Design: Follicular degeneration syndrome (FDS, formerly called hot comb alopecia) has only been described in black women. The clinical and histologic features of eight black men with a scarring alopecia resembling FDS were studied., Observations: All eight men had evidence of scarring alopecia, which was most prominent on the crown of the scalp. None of the men were using chemical or physical modalities to straighten or style the hair. Overall, this group of men had more evidence of active inflammation than did the previously described women with FDS. The histologic features in the men were identical to those found in women with FDS. The presence of premature desquamation of the inner root sheath and migration of the hair shaft through the outer root sheath serve as histologic markers of FDS and separate it histologically from other forms of scarring alopecia., Conclusions: Follicular degeneration syndrome is a common form of scarring alopecia in black men, just as it is in black women. In men, there is no association between chemical or mechanical hair styling techniques (eg, the "hot comb") and onset, progression, or severity of disease. The histologic features of FDS in men are identical to those in women.

Background: The history, physical examination, and histologic findings in 10 black women with a common, distinctive form of scarring alopecia (formerly called hot comb alopecia) were retrospectively studied. A detailed history of hair care habits was obtained, and scalp biopsy specimens were examined after both vertical and transverse sectioning., Observations: Poor correlation is noted between the usage of a hot comb and the onset or progression of disease. The earliest observable histologic abnormality is the premature desquamation of the inner root sheath. In severely affected follicles this is followed by a chain of histologic events leading to complete follicular degeneration., Conclusions: The term follicular degeneration syndrome (FDS) is proposed for this clinically and histologically distinct form of scarring alopecia. Historical information is incompatible with the hypothesis that hot comb usage causes the alopecia. It remains unclear whether the use of any of a variety of hair care products and techniques plays a role in the pathogenesis of this condition. Premature desquamation of the inner root sheath serves as a histologic marker for FDS follicular degeneration syndrome, and may be an important pathogenetic factor.

Twenty-two patients undergoing Mohs micrographic surgery for nasal or perinasal basal cell carcinoma (BCC) were noted to have folliculocentric basaloid proliferation (FBP) on standard horizontal frozen sections. This FBP probably represents "bulge" growth and may have striking similarity to BCC. Criteria that distinguish FBP from BCC are presented herein.

We describe a 62-year-old man with multiple myeloma who developed horny spicules on his face, particularly on his nose. IgG-lambda monoclonal gammopathy was detected, and the serum dysprotein was shown to be a cryoglobulin, which forms a cryogel at low temperatures. Light and electron microscopic and immunohistochemical examinations showed an intercellular precipitation and massive accumulation of the IgG dysprotein and cryoglobulin between the keratinocytes of the upper epidermis and the infundibular epithelium. The follicles were dilated and filled with parakeratotic cells, the protein deposits between them and a rudimentary hair thus resulting in the clinically visible symptoms of horny spicules. The limitation or the predominance of the symptoms in cold-exposed body regions, the morphological identification of the dysprotein deposits as cryoglobulin or cryogel, and the laboratory findings concerning the temperature and pH dependence of the precipitation of the IgG dysprotein reveal that the paraneoplastic horny spicules are a hitherto unknown clinical manifestation of cryoglobulinemia.

A recent study by Bangert et al suggests that there are quantitative histologic differences that distinguish discoid lupus erythematosus (DLE) and subacute cutaneous lupus erythematosus (SCLE). Utilizing criteria proposed by these authors, we examined 77 biopsy specimens from 63 patients with various forms of lupus erythematosus, but we were unable to predict the correct clinical subset. Using the clinical diagnosis of DLE as a positive reference standard, the sensitivity and specificity for the overall pathologic diagnosis of DLE were 55% and 42%, respectively. Statistically significant histologic factors favoring the diagnosis of DLE over SCLE in the present study were pilosebaceous atrophy, hyperkeratosis, parakeratosis, basement membrane thickening around the follicles, subepidermal edema, and vascular ectasia. These histologic variables were entered into a forward stepwise multivariate regression analysis to determine distinct predictors of DLE vs SCLE. This analysis showed that pilosebaceous atrophy was the only distinct significant predictor of DLE vs SCLE. These results suggest that the histologic differentiation of clinically defined DLE and SCLE cannot be established from the histologic features examined.

A 14-year-old girl was evaluated for patchy hair loss present from early childhood. Her mother was found to have a similar condition. When studied in transverse section, biopsy specimens from both women showed marked anagen-telogen transformation that circumstantially appears to be irreversible. Preservation of telogen epithelium with absence of inflammation and scarring readily separate focal familial alopecia from the pseudopelade state and from localized alopecia areata. To our knowledge, this is the first description of a new familial disorder causing focal alopecia.

Three patients had hereditary multiple trichodiscomas of early onset and dominant inheritance. This report is an analysis of the histologic, histochemical, immunohistochemical, and electron microscopic findings in 27 trichodiscomas, the largest published series so far, to our knowledge. The tumors of perifollicular connective tissue are briefly reviewed and a classification is proposed. Hereditary multiple trichodiscomas are regarded as a new entity that should be distinguished from the syndrome recently described by Birt and associates that is characterized by autosomal dominant inherited fibrofolliculomas as the hallmark, associated with trichodiscomas and acrochordons.

We report two cases of cutaneous horn: one on the palm and one on the thumb. Microscopic examination of the lesion revealed trichilemmal-like keratinization that was unrelated to hair follicles. Each of these lesions most probably developed within a preexisting verruca vulgaris.

Two children had a hyperpigmented monomorphous papular eruption of several years' duration. Biopsy specimens demonstrated cysts in the middle dermis that contained multiple fragmented vellus hair shafts. The eruption in one child involuted spontaneously. The cause of these lesions is obscure. The term eruptive vellus hair cysts is proposed for this entity.

The C57Bl/Ler-vit.vit mouse grows a black pelage after birth. During successive hair molts, the fur loses its pigmentation. By 6 months of age, most of the fur of the animal is white. The epidermis of the ears and tail also loses its pigmentation. Histologic studies confirm that in the epidermis and hair follicles there is an absence of pigment cells identifiable by various histochemical or electron microscopic techniques. This mouse may be an excellent model in which to study the role of Langerhans' cells and the immune response in the pathogenesis of vitiligo, a study not easily done in humans. From results of prior studies, we postulated that if Langerhans' cells were involved in the destruction of melanocytes, they would be abnormal (either more or less numerous) in number during the active phase of depigmentation and normal in number after depigmentation was complete. To determine whether the Langerhans cell (Ia+/adenosine triphosphatase dendritic epidermal cell) might be involved in destruction of pigment cells, we quantified the number of Ia+ and adenosine triphosphatase dendritic cells in the hair follicles in skin from the ear, abdomen, back, and tail from male C57Bl/Ler-vit.vit mice while the fur and skin were depigmenting and after depigmentation was almost completed. We found that Langerhans' cells were normal in number during depigmentation and were most numerous after depigmentation. Previous studies indicate that Langerhans' cells in these mice are functionally defective and respond poorly to some contact allergens. From these morphologic and functional data, we conclude that Langerhans' cells probably are uninvolved in causing depigmentation in these mice. We also observed that the epithelium of hair follicles has a significantly higher (up to 1600/mm2) population density of Langerhans' cells than interfollicular skin.

Transverse sections of cylindrical scalp biopsy specimens can provide excellent samples for histologic, quantitative morphometric analyses of the follicles and hair. This study describes and illustrates the morphologic details of the normal transverse anatomy of follicular structures, including the various phases of the normal hair cycle.

A newly recognized disorder of black scalp hair is characterized by the irregularly alternating segmentation of hair into dark and light bands. A 15-year-old girl had segmented heterochromic scalp hair in association with iron-deficiency anemia. The clinical and laboratory investigations support the view that low serum iron levels play a critical role in reducing eumelanogenesis and in the possible failure of melanin transfer. The segmented heterochromic hair recovered completely after iron supplementation, which coincided with increased eumelanogenesis in the recovered hair. This clinical experience indicated participation of iron in the kinetics of melanogenesis within the follicular melanocytes.

Hypopigmentation of hair and freckles occurred in a patient receiving chloroquine sulfate therapy. This patient had a severe congenital renal failure that presumably increased plasma and tissue levels of the drug substantially, accounting for the hypopigmentation.

A histologic study was designed to evaluate the pilosebaceous unit of the scalp in nonpustular patch- and plaque-stage psoriasis. Punch biopsy specimens from involved and uninvolved areas of 28 patients were sectioned in a horizontal plane for qualitative and quantitative study. All samples were evaluated in a blind mode, and data were analyzed for statistical significance. There was no evidence for alopecia of any type. Sebaceous gland atrophy was a frequent concomitant in the psoriatic lesion, with probable down-sizing of the hair follicle and thinner hair shafts. Paradoxical sebaceous gland atrophy and down-sized hair follicles in psoriasis may be due to possible inhibiting effects of yet unidentified factors produced by the epidermal lesion.

Protein energy malnutrition (PEM), the most widespread nutritional deficiency disorder of mankind, is a group of related disorders, with a more complex and still incompletely understood etiologic basis than its name suggests. Dermatologic and other clinical manifestations are more florid and characteristic in kwashiorkor than in marasmus. The complex of clinical syndromes that constitute PEM is best considered when using a three-dimensional model to illustrate its varying degrees (ie, mild, moderate, or severe) and the spectrumlike nature of the forms of the severe degree (ie, kwashiorkor, marasmic-kwashiorkor, or marasmus). Protein energy malnutrition is not confined to children in the Third World and is the most common form of undernutrition in hospitalized patients in Western countries. Marasmus is by far the most prevalent form. Much of the nutritional support given in hospitals is not based on an assessment of nutritional status, and little attention is paid to the different forms PEM might take. Even those who do consider this last point confuse hypoalbuminemia in patients acutely stressed or infected with kwashiorkor. Recent evidence suggests that the skin changes of kwashiorkor may be caused by zinc deficiency. Almost nothing is known about the histopathology of the skin per se in PEM but studies of the hair bulb have shown important differences among patients with kwashiorkor, marasmus, and normal skin.

Acquired progressive kinking of hair is an entity distinct from woolly hair in its onset at or after puberty, predominant involvement of frontal, temporal, and vertex regions of the scalp as well as the supra-auricular and postauricular margins, and a tendency for affected hairs to resemble pubic hair both in texture and color. We consider the condition to be androgen dependent and likely to progress to male pattern baldness. The condition "whisker hair" is probably a variant of acquired progressive kinking of hair.

Six cases are presented which exhibit a peculiar type of follicular degeneration leading to alopecia and characterized by edema and the presence of mucin in the outer root sheath and sebaceous gland. This is accompanied by varying degrees of inflammation. The clinical lesions are sharply defined plaques which enlarge slowly and seem to be curable by relatively small doses of x-ray therapy.

Noonan's syndrome is a multisystem syndrome that has received little attention in the dermatologic literature, although there are numerous cutaneous manifestations that have been described. A typical case of Noonan's syndrome is presented. Clinical findings in this patient included short stature, curly scalp hair, prominent ears, hypertelorism, webbing of the neck, cubitus valgus, pigmented nevi, stasis dermatitis, and plantar hyperkeratosis. The latter two findings have not been previously reported in Noonan's syndrome. We urge that dermatologists become more aware of this syndrome to document the spectrum of changes that may occur in Noonan's syndrome.

Disseminate and recurrent infundibulofolliculitis is an uncommon pruitic papular follicular eruption that affects the trunk and proximal extremities and occurs almost exclusively in blacks. Little is known about the cause, and treatment has been totally unsuccessful. Extensive laboratory investigations, including histology and direct immunofluorescence in four cases, were unrevealing. Oral vitamin A therapy was effective in controlling five of six cases. We consider this disease to be a specific clinical and pathologic response to an, as yet, unknown cause or causes.

Umbilicated and nonumbilicated papules were present on the presternal area of a patient with eruptive vellus hair cysts. Histopathological examination of umbilicated papules showed penetration of vellus hairs through cyst walls, surrounding granulomatous foreign body reaction, and communication to the surface of the skin with released vellus hairs present in the pore. This suggests that resolution of some of the cysts in this disorder may occur by transepithelial elimination.

A 69-year-old man had reversible generalized thinning of the scalp hair and normal-appearing scalp skin that proved to be secondary to follicular mucinosis. This case illustrates that when mild degrees of follicular degeneration and inflammation occur in this disorder, physical findings other than alopecia may be absent. In rare instances, follicular mucinosis can occur as a chronic diffuse noncicatricial alopecia.