Autosomal recessive epidermolytic palmoplantar keratoderma.

Abstract

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a weli delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features ofepidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.

Hereditary Palmoplantar (Epidermolytic) Keratoderma: Illustration Through a Familial Report

“…Localized epidermolytic hyperkeratosis, first described by Vorner 22 and Klaus et al, 23 demonstrated dominant inheritance and male‐to‐male transmission, which was later substantiated, 11,24,25 although the inheritance is said to be autosomal dominant. Some researchers 26 suggested the existence of an autosomal recessive form, but because of the high background frequency of consanguinity in Kuwait where the patients were observed and because of the possibility of gonadal mosaicism, the evidence for recessive inheritance is not strong in this small family. Epidermolytic PPK is probably one of the most common keratin diseases, with an incidence of at least 4.4 per 100,000 in Northern Ireland 19 .…”

“…20,21 Localized epidermolytic hyperkeratosis, first described by Vorner 22 and Klaus et al, 23 demonstrated dominant inheritance and male-to-male transmission, which was later substantiated, 11,24,25 although the inheritance is said to be autosomal dominant. Some researchers 26 suggested the existence of an autosomal recessive form, but because of the high background frequency of consanguinity in Kuwait where the patients were observed and because of the possibility of gonadal mosaicism, the evidence SKINmed: Dermatology for the Clinician (ISSN 1540-9740) is published bimonthly (Jan., March, May, July, Sept., Nov.) by Le Jacq Communications, Inc., Three Parklands Drive, Darien, CT 06820-3652. Copyright ©2004 by Le Jacq Communications, Inc. All rights reserved.…”

“…Associations of epidermolytic PPK include raised serum IgE, 26 knuckle pads, 35 clubbing, 36 epidermolytic hystric nevus, 37 Ehlers-Danlos syndrome, 38 nail changes and periodontosis, 39 malignancy, 40 Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, supernumerary nipples, 41 hereditary motor and sensory neuropathy, 42 hereditary callosities with blisters, 43 and adenocarcinoma of the colon. 44 SKINmed: Dermatology for the Clinician (ISSN 1540-9740) is published bimonthly (Jan., March, May, July, Sept., Nov.) by Le Jacq Communications, Inc., Three Parklands Drive, Darien, CT 06820-3652.…”

Mutations in the 1A Rod Domain Segment of the Keratin 9 Gene in Epidermolytic Palmoplantar Keratoderma

“…EPPK is a genodermatosis with an autosomal dominant mode of transmission, ¢rst described by Voerner in 1901 (2), although there has been one report of an autosomal recessive case, perhaps due to consanguinity (35). To date, all cases of this disease map to the type I keratin gene cluster on chromosome 17q12-q21 (27) and have been found to be caused by mutations in sequences encoding the 1A rod domain segment of the keratin 9 gene (19).…”