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We report the case of a newborn who was noted at birth to have an occipital scalp nodule presenting with a hair collar sign (HCS). The nodule had enlarged since birth. An MRI revealed a soft tissue mass on the occipital scalp without deep extension or cranial bone involvement. A biopsy of the nodule led to a diagnosis of arteriovenous malformation (AVM). A vascular malformation with HCS has not been reported before in North America. This case highlights the complexity of diagnosing a lesion with a hair collar sign., (© 2023 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.)

A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations., (© 2022 Wiley Periodicals LLC.)

Background/objective: There are few studies examining pediatric scarring alopecia. The objective of this study is to characterize the clinicopathologic findings, comorbidities, and treatment outcomes of pediatric patients with scarring alopecia., Methods: Retrospective review of patients under age 18 diagnosed with scarring alopecia at Mayo Clinic from 01/01/1992 through 02/05/2019., Results: 27 patients met inclusion criteria with a mean age of 11.2 years and a racial breakdown of 85.2% (23) White, 11.1% (3) Black, and 3.7% (1) Multiracial. Clinical scarring was noted in most (23, 85.2%). Biopsy confirmed the diagnosis in most (24, 88.9%). The most common diagnoses were folliculitis decalvans (6, 22.2%), lichen planopilaris (6, 22.2%), aplasia cutis congenita (4, 14.8%), tinea capitis (4, 14.8%), and morphea (3, 11.1%). Comorbid depression (6, 22.2%) and anxiety (6, 22.2%) were prevalent. Of the patients who received follow-up, most who pursued treatment achieved stabilization (55.5%) or slowing of progression (27.8%), with 44.4% of those treated experiencing regrowth. Mean time to stabilization in the treated population was 19.6 months. Two patients did not pursue treatment, but received follow-up and these untreated patients did not experience hair regrowth., Conclusions: Most patients presented with clinically evident primary scarring alopecia. Biopsy may confirm the diagnosis. Active treatment should be pursued, and successful treatment often requires combination therapies. Time to stabilization often takes years. Screening for depression and anxiety should be pursued., (© 2021 Wiley Periodicals LLC.)

We report a 6-month-old girl born with a fronto-parietal patch of hair straighter than the remainder of the scalp hairs. We took a biopsy to rule out a congenital melanocytic nevus. We concluded after additional scanning electron microscopy study of the hair shafts that the lesion corresponds to a possible local mosaicism causing an isolated straight hair nevus phenotype., (© 2019 Wiley Periodicals, Inc.)

Trichotillomania is a form of traction alopecia resulting from repetitive and compulsive hair pulling and plucking. Trichotillomania and patchy alopecia areata may have similar clinical and dermoscopic features in some cases. On trichoscopic examination, the presence of black dots, coiled or hook hair, shafts of varying lengths with fraying or split ends (trichoptilosis), and an absence of exclamation mark hairs and yellow dots are suggestive of trichotillomania., (© 2019 Wiley Periodicals, Inc.)

Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft., Methods: Sixteen patients with silvery hair syndrome were selected (Chediak-Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses., Results: Chediak-Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome., Conclusion: Skin biopsy is a useful tool in differentiating Chediak-Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak-Higashi syndrome to be differentiated from Griscelli syndrome, at any age., (© 2018 Wiley Periodicals, Inc.)

We present cases of localized alopecia on the vertex scalp of two girls after elaborate professional hairstyling marketed as the "Princess Package" at a major U.S. theme park. Localized alopecia followed pain, erythema, and delayed crusting due to necrosis of the scalp. The majority of the affected alopecic areas had evidence of regrowth at interval follow-up, but small areas of scarring alopecia remained. We propose that these cases represent a type of alopecia caused by a combination of pressure ischemia and acute traction alopecia., (© 2018 Wiley Periodicals, Inc.)

Background/objectives: Short anagen syndrome is a hair cycle disorder usually diagnosed in early childhood and characterized by short hair length due to short duration of the anagen phase. The objective was to review the presentation and demographic characteristics of short anagen syndrome and compare them with the most common differential diagnosis, loose anagen syndrome., Methods: A retrospective review of eight children with short anagen syndrome was performed at the University of Miami Outpatient Dermatology Clinic., Results: The diagnosis of short anagen syndrome was confirmed according to clinical findings and characteristic short telogen hairs with pointed tips on the hair pull test., Conclusion: This is the largest reported clinical series of short anagen syndrome thus far in the literature., (© 2018 Wiley Periodicals, Inc.)

Specific clinical features of aplasia cutis congenita may indicate the presence of underlying cranial or cerebrovascular defects, allowing for early recognition and intervention. Most information about aplasia cutis congenita exists as individual case reports, with few large-scale studies. We conducted a 7-year retrospective chart review of 90 cases of aplasia cutis congenita and identified clinical characteristics including morphology, number of lesions, anatomic location, presence of hair collar sign, associated cutaneous features, histology, and imaging results. The anatomic location of the lesion (vertex, midline) (P = .01), presence of hair collar sign (P < .001), vascular stains (P < .001), and nodules (P = .007) were found to be strong clinical indicators of skull or cerebrovascular involvement., (© 2017 Wiley Periodicals, Inc.)

Peripillous sheaths, or hair casts, are asymptomatic, white, cylindrical concretions that encircle the hair without adhering to it. They are infrequently documented in the literature, are often misdiagnosed, and generate avoidable apprehension and expense for parents and caregivers. Dermoscopy is the standard for a rapid, noninvasive, cost-effective diagnosis. We describe a case of peripillous sheaths presenting in a boy., (© 2014 Wiley Periodicals, Inc.)

Hair and scalp disorders in children may originate from the hair itself, scalp skin, or infectious causes and be congenital or acquired. The most common sign is alopecia, frequently brought on by tinea capitis, patchy alopecia areata, or trichotillomania. Sometimes less frequent and clinically more elusive conditions such as initial androgenetic alopecia, congenital triangular alopecia, or alopecia areata incognita may be responsible for hair loss. The noninvasive technique known as trichoscopy is being used more frequently, aiding in the prompt differential diagnosis and follow-up of many of these diseases, oftentimes providing further examination before a treatment decision is made. This review of trichoscopy of the main scalp and hair disorders afflicting children and adolescents discusses the most important dermoscopic criteria and the usefulness of this technique., (© 2013 Wiley Periodicals, Inc.)

A 4-year-old girl presented with sparse, brittle hair on her entire scalp and keratosis pilaris on the nape of her neck. Subtle microscopic and macroscopic diagnostic features presented a challenge for physicians. Only repeated, optimized light microscopy revealed the diagnosis of monilethrix, a rare genetic hair shaft disorder with a variable phenotypic expression and inheritance pattern. We provide a short overview of methods that maximize the diagnostic yield in a clinical setting and of light microscopy to reach a rapid and accurate diagnosis in difficult cases. We conclude with essential learning points, including a link to assistance with hair microscopy from a tertiary center., (© 2013 Wiley Periodicals, Inc.)

Peripilar keratin casts, also called pseudonits or hair casts, are thin, elongated, greyish-white, cylindrical, sleeve-like structures that encircle the hair shaft and can easily be slid along the hair. They may be clinically misdiagnosed as nits. In addition to physical removal, keratolytic lotions or shampoos are helpful. We report an 11-year-old girl with pseudonits. Although it is not a rare condition, underdiagnosis is common., (© 2013 Wiley Periodicals, Inc.)

Loose anagen hair syndrome (LAHS) is an uncommonly reported autosomal dominant hair disorder with incomplete penetrance that primarily affects children but is occasionally seen in adults. LAHS is characterized by the ability to easily and painlessly extract unsheathed anagen hairs from the scalp with gentle traction. The hair is sparse and does not grow long. Usually the hairs are not fragile and do not have areas of breakage. Initially it was considered a rare, sporadic condition found predominantly in young white girls with blonde hair. Because autosomal dominant inheritance has been reported, it was suspected that the condition might be equally common in boys but was probably underdiagnosed., (© 2013 Wiley Periodicals, Inc.)

The objective of the study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using light microscopy and to compare findings with those in unaffected controls. Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-ectrodactyly-cleft lip or palate, ankyloblepharon-ectodermal defects-cleft lip and palate, Clouston syndrome, Goltz syndrome, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls. Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control participants were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. Sixty-five affected participants and 41 unaffected controls were included in the analysis. We assessed the hair shafts of ED and control participants for abnormalities visible using LM. Light microscopy identified various pathologic hair shaft abnormalities in each type of ED, although none of the findings were statistically significantly different from those of the control group. Light microscopy is a poor adjuvant tool in the diagnosis of ED syndromes. Most findings are nonspecific and not sufficiently sensitive., (© 2011 Wiley Periodicals, Inc.)

Eruptive vellus hairs cysts are benign papules consisting of small cysts containing multiple vellus hairs. An eruption commonly develops on the chest and sometimes the upper extremities. These papules are asymptomatic or rarely pruritic. Only a few cases of familial association have been described. We report the development of eruptive vellus hair cysts on the trunk of an 8- and 12-year-old sister and brother., (© 2012 Wiley Periodicals, Inc.)

The occurrence of a solitary subcutaneous granular cell tumor characterized by overlying hypertrichosis in a child is reported. Granular cell tumor should be included in the differential diagnosis of cutaneous neoplasms associated hypertrichosis in the pediatric patient., (© 2010 Wiley Periodicals, Inc.)

Netherton syndrome is an autosomal recessive disorder, characterized by ichthyosis, atopic manifestations, and hair shaft abnormalities (trichorrhexis invaginata). The diagnosis of Netherton syndrome may be established on the basis of just one abnormal hair, but it is often difficult to find a hair with pathognomonic features on light microscopic examination. Every attempt requires pulling new hairs. We present the case of an 11-year-old female patient with Netherton syndrome in whom hair and scalp videodermoscopy (trichoscopy) was used to visualize typical bamboo hairs and hairs with golf tee type endings in the scalp hairs and eyebrows. Trichoscopy is a method, which allows noninvasive viewing of hair shafts in many-fold magnification without the need of pulling hair for diagnostic purposes. This case shows that trichoscopy may be employed to significantly improve the chance of establishing the diagnosis of Netherton syndrome in patients.

Pili bifurcati is an extremely rare hair shaft abnormality. We present a case with a scanning electron microscopy analysis.

Keratitis ichthyosis deafness syndrome is a rare congenital ectodermal disorder. It appears to be genetically heterogeneous and may be caused by mutations in the connexin 26 (Cx26) gene (GJB2) or in the connexin 30 gene. It is characterized by the association of ichthyosis-like skin lesions, hearing loss, and vascularizing keratitis. We report the clinical and molecular findings in a 5-year-old girl with keratitis ichthyosis deafness syndrome. DNA sequencing in our patient revealed a p.Ser17Phe mutation in GJB2. Besides the typical clinical features of keratitis ichthyosis deafness syndrome, a peculiar intriguing finding not previously described in the literature in this condition was that polarizing light microscopy of the scalp hair in our patient revealed striking bright and dark bands as seen in trichothiodystrophy. Amino acid analysis of the hair sample also disclosed a reduced cysteine index. We emphasize that it would be of great benefit to examine hair shafts in other patients with keratitis ichthyosis deafness syndrome for trichothiodystrophy-like abnormalities.

Netherton syndrome is a rare genodermatosis characterized by ichthyosiform scaling, hair shaft abnormalities, and atopic features. Affected infants typically have delayed growth and development, immune abnormalities with recurrent infections, and intermittent aminoaciduria. We report a 23-day-old girl who presented with severe primary pulmonary hypertension, exfoliative erythroderma, and trichorrhexis invaginata. Genetic studies confirmed a premature termination mutation R350X in exon 12 of SPINK5. This mutation further supports the genotypic-phenotypic prediction that severe sequela result from premature termination mutations. To our knowledge, this is the first instance of Netherton syndrome associated with primary pulmonary hypertension to be reported. Further postulated is a possible link between excessive desquamation of fetal skin and respiratory failure in a neonate with Netherton syndrome.

A 4-year-old girl presented with a 2-year history of scalp hair that had an odd texture, was difficult to manage, tended to "stick out" from the scalp, and was irregular in length. A hair pull test revealed that hairs could be easily and painlessly extracted. Light microscopic examination of the hair demonstrated anagen hairs with a ruffled cuticle and distorted bulb as well as an unusual undulation and grooving of the shafts. These findings are consistent with both loose anagen and uncombable hair syndromes. The occurrence of both syndromes in the same patient seems unlikely, and we propose that our patient has loose anagen hair syndrome with features resembling uncombable hair syndrome.

Pili annulati is a rare hair shaft abnormality of unknown pathogenesis which gives a gross beading effect. An association with alopecia areata has been reported. We present a 13-year-old girl who had alopecia areata and coincidentally was found to have pili annulati. Her mother also had pili annulati which had become more noticeable as her hair had become paler with age. We discuss the possible pathogenesis of pili annulati and relate that to the microscopic banding appearance of the hair shaft. We note the relevance of the condition becoming more apparent with age. We also discuss the probable coincidental association with alopecia areata.

We report a 21-month-old girl with symptoms consistent with the Zunich neuroectodermal syndrome, an apparently rare condition first described in 1983. Common features of all previously reported patients as well as in this child are characteristic craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and ultrastructural investigations of the affected skin showed characteristic but nonspecific changes. The structural hair shaft abnormalities as well as the dysplastic nails in our patient have not been described before and are consistent with the previous assumption of an ectodermal dysplasia syndrome.

Hypertrichosis cubiti, also named hairy elbows syndrome (HES), is an uncommon variety of congenital, circumscribed hypertrichosis in which a remarkable amount of long vellus hair is localized on the extensor surfaces of the upper extremities. Usually, this condition appears in infancy, increases during early childhood, and regresses spontaneously at puberty. The mode of inheritance is not elucidated, and the condition presents in a sporadic or familial form. In most patients HES is not associated with any other physical abnormalities, although short stature and other developmental disorders have been described in some. An 8-year-old girl affected with HES is reported. The literature on this subject is reviewed, and some clinical and etiopathogenic aspects are discussed.

This report presents two prepubertal girls with Fox-Fordyce disease. The pruritic papules extensively affected the areas where apocrine glands are distributed (axillae, periareolar and intermammary zones, pubes, infraumbilical midline), and also extended to the neck and face near the external angle of the eyes in one child. Analyses of several biopsy specimens showed that the main lesion was a spongiotic vesicle containing inflammatory cells and keratinocytes affecting the hair infundibula and acrosyringia, together, with hyperkeratosis of both adnexa. The cause of the disease remains elusive, but the microscopic findings may explain the good results obtained with keratolytic agents.

We examined skin biopsy specimens from 17 of 19 newborns or infants with generalized ichthyosiform, exfoliative, seborrheic, or psoriasiform erythroderma. The specimens showed similar characteristic but nonspecific and therefore, at first sight, uninformative histologic features. Morphologically, the skin was affected overall with a persistent outbreak of eczema-like eruptions of subacute or chronic dermatitis. Pronounced dermal inflammatory processes were obvious by their perivascular and interstitial presence as well as exocytosis of lymphocytes, macrophages, and neutrophils. Epidermal barrier function was Impaired by the highly suppressed terminal differentiation, with thin or in part completely absent stratum corneum, decrease of keratin filaments, decrease or lack of keratohyalin granules, and of keratinosomes containing stacks of lipid membranes. As a result, the formation and discharge of epidermal barrier lipids from the keratinosomes that normally provide intercellular lamellar sheets at the granular-horny layer interface contributing to the epidermal barrier, was highly disturbed. The concomitant loss of water, electrolytes, and proteins by fluid exudation caused the patients severe metabolic problems and recurrent infections. The suspicion of Netherton syndrome was eventually confirmed in 18 patients by light microscopic demonstration of bamboo hairs (trichorrhexis invaginata), mostly from the scalp, but also in vellus hairs and eyelashes. Atopy actually belongs to the symptom triad defining Netherton syndrome and is, in our opinion, primarily responsible for the pathologic events within the skin and of the keratinizing parts of the growing hair shafts. Differential expression of the atopic condition determines the appearance of the keratinization disorder of the skin, namely, severe, generalized, exfoliative erythroderma or milder forms of ichthyosis linearis circumflexa Comèl. Retinold treatment seems to be contraindicated in these conditions since their biopharmacologic effects involve suppression of terminal differentiation, which is the proper pathognomonic event. In six patients the condition had a fatal course within months because of hypernatremia, recurrent infections, failure to thrive, and sepsis. Our aim is to call attention to and reaffirm that in congenital or early infantile cases of generalized exfoliative erythroderma. Netherton syndrome should be suspected as the underlying disease.

Hair may be classified by type as vellus or terminal. The transformation of vellus follicles into terminal follicles is induced by androgens in androgen-dependent areas by promoting the genetic program existing within individual follicles. Patients with normal androgen plasma levels and absent hair growth in certain areas under androgenic control have been described. One explanation of this condition may be abnormal target tissue sensitivity. We report a 17-year-old man whose only complaint was inability to grow a beard on the left side of his face.

Clinical aspects of sequestrated meningocele can be varied, causing difficulties in histopathological diagnosis. The meningeal tissue is scanty and appears as nonspecific connective tissue, therefore it may be overlooked. One classical and two unusual clinical presentations of sequestrated meningocele are described: one of the latter presenting as two atrophic midline bald patches, and the other as a tiny occipital midline hair tuft. In the unusual cases, the pathologic diagnosis was made possible only with the combination of clinical, histologic, and immunohistochemical studies. Sequestrated meningocele should be included in the differential diagnosis whenever hair abnormalities are observed in neonates and young children. We believe that there is a causal relationship between anomalies of the central nervous system and the cutaneous adnexal malformations.

A 6-year-old Caucasian girl had dozens of asymptomatic, flesh-colored, 2- to 5-mm eruptive vellus hair cysts. These papules on the buttocks, thighs, and groin increased in number for three months. Histologic examination revealed poorly defined, keratin-filled cysts in the upper middermis, containing numerous transversely or obliquely cut portions of vellus hair. The histopathologic differential diagnosis with other epithelial cysts containing hair shafts is debated, and new clinical differential diagnoses are proposed. Review of the literature suggests that eruptive vellus hair cyst is not a rare disorder, but its frequency is probably underestimated due to paucity of symptoms. Nevertheless, the clinical relevance of some of the differential diagnoses should convince clinicians to obtain histologic confirmation.

Using information from a light microscope integrated with a computer, we quantified the variation in node and internode dimensions in monilethrix. We combined this with rate of growth measurements in individual hairs to make the following conclusions. There is considerable variation of node and internode configuration within single hairs. Hairs from the same scalp, sampled at the same time show no mutual coordination of node-internode formation, even when different growth rates are taken into account. There is no apparent correlation between the day-night cycle and the node-internode rhythm. The follicular expression of monilethrix appears largely independent of unifying systemic influences.

Hair casts were seen in 22 girls ranging in age from 4 to 13 years. They were localized to the frontal, vertex, and temporal areas. The number of affected hairs varied from one-tenth to one-third. Twenty of the 22 girls styled their hair in ponytails or pigtails. Compound root sheath casts were present in six of nine patients using 1% 4-dimethylaminocinamaldehyde stain. A mass of large polymorphous scales and solitary or clumped spores was seen on the surface of hair casts using scanning and transmission electron microscopy. Energy-dispersive x-ray microanalysis showed that elements of silicon, aluminum, and molybdenum were uniquely present in hair casts. We assume that tightly drawn braids, by causing local circulatory disturbances and inflammation of the scalp, may be one etiologic factor in the disorder.

Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies, cleft lip or palate, poor dentition, poor hair growth, dystrophic nails, and hypohidrosis, and hypospadias in boys. Since the original report in 1968, fewer than 20 other patients have been described. We report a new sporadic case, a 12-year-old boy who had erythrodermia and scaling skin at birth, and later developed most of the symptoms and findings previously described.

A 15-year-old white male had an extensive skin eruption that had been present since age 2 years. Physical examination revealed flesh-colored, rough-textured papules surrounded by faint erythema. These lesions were present diffusely over the upper trunk, arms, thighs, face, ears, and neck. Evaluation of four immediate family members revealed a similarly affected brother and father. A biopsy of the papules showed the presence of a mid-dermal epithelial cyst containing numerous vellus hairs.

A study was undertaken in an attempt to identify useful histologic criteria that may allow differentiation between benign idiopathic and mycosis-fungoides-associated follicular mucinosis. We chose young patients because no person under 20 years of age with coexisting follicular mucinosis and mycosis fungoides disease has ever been reported. Our three most important observations in benign juvenile idiopathic follicular mucinosis were as follows: The lymphocytic infiltrate was generally confined to follicular, perifollicular, or perivascular zones with no extension of either normal or atypical mononuclear cells into the epidermis or into papillary/reticular dermis. Within follicular epithelium there were dense collections of lymphocytes with occasionally atypical-appearing nuclei in three of the eight patients, but never as Pautrier microabscesses. There was absence of a significant associated plasma cell or eosinophil-containing inflammatory dermal infiltrate. These findings are in contrast to those of older patients with follicular mucinosis and mycosis fungoides.

We cared for nine patients who were less than 21 years old at the time of diagnosis of follicular mucinosis. Four had clearing of the lesions, four did not, and one was lost to follow-up. Follicular mucinosis, even in childhood, may be persistent and be associated with lymphoma, which can result in death. Because there is no clinical pattern or single histopathologic criterion that correlates with the outcome, clinical follow-up and assessment of several histopathologic criteria must be relied on when evaluating this condition in children.

Pili trianguli canaliculi, a recently described dysmorphic disorder of the hair, occurred with variable severity in three related members of a family. The diagnosis was suspected from the complaint of "uncombable hair" and was confirmed by identifying the defect by scanning electron microscopy. The pedigree provides evidence for autosomal dominant inheritance.