Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families. We studied eight affected and three healthy subjects in an Israeli family, of Kurdish origin, with EKV. After having mapped the disorder to chromosome 1p34-p35, we found no ...

The prevalence of keratosis pilaris and accentuated palmoplantar marking was evaluated in 61 patients with atopic dermatitis, 35 patients with dominant ichthyosis vulgaris and 247 other dermatological cases taken as controls. Our data showed that (1) these features are of no diagnostic significance for atopic dermatitis and (2) they are significantly more frequent in patients with ichthyosis vulgaris without associated eczema than in those with atopic dermatitis. Consequently, they ...

Recently linkage has been described between the Duchenne muscular dystrophy (DMD) gene and a cloned DNA sequence, RC8, that detects restriction fragment length polymorphism and is derived from the distal short arm of the X chromosome. Positive lod scores between RC8 and Xg prompted sulfatase-X-linked recessive ichthyosis (XRI) locus which is situated 15 cM proximal from Xg in the subtelomeric region of Xp. Unexpectedly, at least two crossovers were found among nine informative meioses of ...

BACKGROUND: The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare; only three families have been reported.

OBJECTIVE: Our purpose was to determine the natural history of this ectodermal dysplasia and to delineate further its clinical manifestations.

METHODS: We reexamined the original family with the NFJ syndrome 65 years after the first description.

RESULTS: The pedigree includes 62 members with 14 affected patients. We examined the 10 living patients. Longitudinal analysis of the ...

BACKGROUND: In a previous study we have found that young patients with insulin-dependent diabetes mellitus had a higher prevalence of keratosis pilaris (KP) than healthy controls, with a high correlation with body mass index (BMI) and ichthyosiform skin changes of the legs.

OBJECTIVES: To investigate whether BMI, dry scaly legs and atopic conditions could be associated with KP in a healthy population of adolescents.

METHODS: A total of 202 Jewish adolescents chosen at random among ...

An electron microscopical study of skin from 2 patients with ichthyosis linearis circumflexa and trichorrhexis invaginata revealed a severe and localized disturbance of keratinization occuring at the keratotic border of figurate skin lesions. It is characterized by a marked decrease of the desmosome-tonofilament system, lack of membrane coating granules and keratohyalin, and the appearence of roundoval, electron dense bodies in the upper spinous layers. The result is a completely ...

Skin biopsies from three cases of clinically typical ichthyosis linearis circumflexa Comèl with trichorrhexis invaginata and manifestations of atopy revealed characteristic, previously undescribed histological alterations at the active border of figurate lesions: formation of an eosinophilic, PAS-positive material replacing the lamellar stratum corneum.

A clinico-statistical analysis of cases with ichthyosis linearis circumflexa and Netherton’s syndrome is presented. It is suggested that ichthyosis linearis circumflexa with trichorrhexis invaginata, Netherton’s syndrome, and ichthyosis linearis circumflexa without hair changes should be regarded as close variants of the same disease process.

A large pedigree with erythrokeratodermia variabilis (EKV) and erythema gyratum repens-like lesions is described. Clinical, laboratory, and histologic findings of this family are presented. The differential diagnoses of the following dermatoses with an erythematous and a hyperkeratotic component are discussed: erythrokeratodermia variabilis (Mendes da Costa), progressive symmetric erythrokeratoderma (Gottron), loricrin keratoderma, erythrokeratoderma en cocardes (Degos), Netherton ...