Scalp dermatitis, distinctive hair abnormalities and atopic disease in the ectrodactyly—ectodermal dysplasia—clefting syndrome

Summary We report a 2-year-old girl with a combination of the ectodermal dysplasia, ectrodactyly, cleft lip/ palate (EEC) syndrome, distinctive hair abnormalities, scalp dermatitis and atopic disease. To our knowledge, this is the first report of scalp dermatitis in the EEC syndrome. Distinctive structural hair abnormalities shared by the syndromes of ectodermal dysplasia and clefting are helicotrichia, pili torti et canaliculi, and cuticle defects, all of which were observed in the present case. A high incidence of atopic disease in certain subsets of ectodermal dysplasia has been reported. In our patient this manifested as food-induced exacerbation of atopic dermatitis, associated with positive prick tests and significant levels of circulating specific IgE.     

Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia

Uncombable hair syndrome or "cheveux incoiffables" is due to a characteristic longitudinal grooving of the hair shaft resulting in a triangular cross section (pili trianguli et canaliculi). In the majority of cases the abnormality is an isolated finding, although uncombable hair-type changes have been observed in conjunction with other features of ectodermal dysplasia. Ultrastructural studies in the latter have revealed more complex changes of the hair shaft, such as longitudinal grooving in combination with torsion, suggesting classification as a different entity. We describe a 6-year-old girl with typical "cheveux incoiffables," as confirmed by scanning electron microscopy, in combination with angel-shaped phalango-epiphyseal dysplasia. The relationship to a previously described syndrome of uncombable hair in combination with retinal dystrophy, juvenile cataract, and brachydactyly, in which both hair and skeletal abnormalities are common, remains to be further elucidated.     

Pili trianguli et canaliculi

We report on a child with pili trianguli et canaliculi. This hair shaft abnormality belongs to a heterogeneous group of diseases which are included under the synonym uncombable hair. The diagnosis was confirmed by scanning electron microscopy, revealing hair shafts with a characteristic longitudinal groove. In addition the girl suffered from atopic eczema and tooth anomalies. Our findings suggest that this disorder could represent a tricho-odontal subtype of ectodermal dysplasia.     

Hair Fibrous Protein Compositions in Some Hereditary Hair Abnormalities Determined by Two-Dimensional Polyacrylamide Gel Electrophoresis

S-carboxymethylated (SCM) fibrous proteins (FPs) from the scalp hairs of the three different hereditary hair abnormalities (trichorrhexis invaginata in Netherton's syndrome, pili trianguli et canaliculi in uncombable hair syndrome, and fine hair in anhidrotic ectodermal dysplasia) were analyzed by two-dimensional polyacrylamide gel electrophoresis. Comparison of the SCM FP compositions of the three hair abnormalities with that of the normal revealed that the SCM FP compositions of these three abnormal hairs were all electrophoretically different from each other and that of the normal.     

Novel homozygous mutation,c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate‐ectodermal dysplasia syndrome in an Asian patient

Cleft lip/palate‐ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss‐of‐function mutations of the poliovirus receptor‐like 1 (PVRL1) gene encoding nectin‐1. Nectin‐1 is a cell–cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate‐ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7‐year‐old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate‐ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin‐1, which is necessary to initiate the cell–cell adhesion process.     

Pili trianguli et canaliculi is a defect of inner root sheath keratinization: ultrastructural observations of anomalous tonofilament organization in a case

A 4-year-old Caucasian girl with pili trianguli et canaliculi had distinctive findings. These included unique ultrastructural alterations consisting of tonofilament-desmosomal detachment and tonofilament clumping within inner root sheath cells. We believe that the hair anomaly in this condition may be due to a compromised cytoskeleton with subsequent configurational changes of the inner root sheath. Despite these configurational changes keratinization of the inner root sheath occurs. As inner root sheath keratinization typically precedes keratinization of the hair shaft, the abnormally configured inner root sheath determines the surface characteristics of the hair shaft in pili trianguli et canaliculi.     

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report

Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal abnormalities and a split hand/foot deformity of the limbs. We report a case of this rare disorder in a 40-year-old male who had ectrodactyly, ectodermal dysplasia, but no clefting of lips or palate.     

A papular plaque-like eruption of the face due to naevoid sebaceous gland hyperplasia

A 23-year-old woman is described with confluent yellowish-white papules and plaques on the face. This was associated with hyperplasia of sebaceous glands. There was no clinical evidence of seborrhoea or anhidrotic ectodermal dysplasia. This is considered to be a separate and distinctive clinical and pathological entity.     

A tricho-odonto-onychial subtype of ectodermal dysplasia

We report on a case of " uncombable hair syndrome" combined with additional hair changes ( peripilar casts), periodic shedding of nails, abnormality of teeth, dysplasia of the nipples , Morbus Scheuermann, and atopic disorders with specific IgE sensibilisation . Pili trianguli et canaliculi as well as peripilar casts were electron-microscopically examined. The presented case might be interpreted as a special tricho-odonto- onychial subtype of ectodermal dysplasia.     

A case of hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a rare, hereditary, congenital disease that affects several ectodermal structures. It is characterised by the following: anhidrosis or hypohidrosis, dental abnormalities, hypotrichosis, and a characteristic facies. The face shows prominent frontal bosses, supraorbital ridges and depressed bridges. We experienced a case of hypohidrotic ectodermal dysplasia in a 43-year-old male who had four characteristic features. A skin biopsy from the palm showed a total absence of the eccrine glands. The diagnosis was made on the basis of clinical features and skin biopsy findings.     

Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia

We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.     

Steatocystoma multiplex with hair shaft abnormalities

Steatocystoma multiplex (SM) is an unusual benign disorder of the pilosebaceous duct characterized by multiple cysts with little or no nail and hair involvement. We report a 30‐year‐old woman with multiple cystic nodules located on the neck, axillae and forearms as well as patchy scalp alopecia. Histopathological examination of the lesions was diagnostic of SM. Trichoscopy revealed pili torti and pili canaliculi. This patient represents an unusual clinical presentation of SM because of the presence of hair abnormalities.     

A newly recognized feature of ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome: comedone naevus

A 21-year-old Black South African man with clinical features of ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is described. The patient had the following anomalies: hypoplastic, peg-shaped teeth; fine, silky hair; absent lacrimal puncta resulting in secondary photophobia, blepharitis and corneal opacities. The hands and feet showed absent digits, symphalangism and displacement of bone consistent with ectrodactyly. In addition, the patient had extensive comedone naevus, a feature not previously reported in EEC syndrome. We stress that the dysplastic ectodermal features of EEC syndrome are not typical of either hidrotic or anhidrotic ectodermal dysplasia but fall into a class of their own. Clefting of the lip and palate were absent due, it is postulated, to the variable expressivity of EEC syndrome.     

Marshall syndrome: a condition resembling congenital syphilis.

Marshall syndrome (ectodermal dysplasia) was diagnosed in a 14-year-old boy and is thought to be the first case reported from West Africa. Because of the saddle-nose deformity and bilateral cataracts all patients suspected of having congenital syphilis should be investigated for ocular or auditory defects, which would confirm the diagnosis of ectodermal dysplasia.     

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

Schöpf‐Schulz‐Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59‐year‐old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto‐onycho‐dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome.     

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis

We report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome.     

Multifocal Merkel's cell tumors associated with a cutaneous dysplasia syndrome

Multifocal Merkel's cell tumors developed in a 24-year-old patient with an unusual cutaneous dysplasia syndrome. The neoplasms behaved in an aggressive fashion, with the development of multiple lymph node metastases. In this case, the dermatologic syndrome had features of both dyshidrotic ectodermal dysplasia and the basal cell nevus syndrome. In addition to Merkel's cell tumors, basal cell carcinomas and actinic elastosis were seen in sun-exposed skin sites. These findings, in conjunction with a known tendency for Merkel's cell tumors to arise in solar-damaged areas, suggest a pathogenetic relationship between these neoplasms and the underlying cutaneous syndrome in this patient.     

Low prevalence of twisted hair in anorexia nervosa

In a series of 30 patients affected by severe anorexia nervosa (AN) we examined hair samples to detect the prevalence of acquired pili torti (APT). True APT were not detected but in two cases (6.6%) twisted hair was observed. The first case was a 24-year-old woman with secondary amenorrhoea for 9 years, whose body mass index (BMI) was 12.2 kg/m2. She also had severe skin xerosis and hypertrichosis. The second case was a 24-year-old woman with secondary amenorrhoea for 1 year, whose BMI was 11.3 kg/m2. She also had severe skin and lip xerosis, severe effluvium, cystic acne, acrocyanosis, perimylolysis (severe erosion of the dentition) and scars due to cigarette burns on her forearms. Reviewing the literature we noticed that the largest series of pili torti--congenital and acquired--were published by authors from countries such as Israel and Egypt. We therefore hypothesize that, under the same conditions, a genetic factor may predispose to this hair shaft defect.