Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation

• Type: Article in International Scientific Journal
• Date: 2009

Authors

Paulo Morais (Author) Other; Alberto Mota (Author) Other; Teresa Baudrier (Author) Other; Jose Manuel Lopes (Author) FMUP; Rita Cerqueira (Author) Other; Purificacao Tavares (Author) Other; Filomena Azevedo (Author) Other

Journal

Title: European Journal of Dermatology

Vol. 19

Pages: 333-336

ISSN: 1167-1122

Publisher: Libbey

Indexing

ISI Web of Knowledge - 10 Citations

Scopus - 14 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-003-HQB

DOI: 10.1684/ejd.2009.0684

Abstract (EN): We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she presented generalized hyperkeratotic plaques with a cobblestone pattern and a pungent odour, most prominently around flexures, scalp and palmoplantar areas. Clinical, histological and ultrastructural findings confirmed the diagnosis of epidermolytic hyperkeratosis (EHK). Molecular genetic analysis revealed a mutation in the KRT10 gene. Treatment with oral acitretin was attempted but it was discontinued due to hepatic dysfunction and marked desquamation and blistering. EHK is a rare autosomal dominant disorder of keratinization, caused by mutations in either the KRT1 or KRT10 genes. Although palmoplantar keratoderma is typically found in patients with KRT1 mutation, our patient presents EHK with palmoplantar involvement and KRT10 mutation. Moreover, a poor response to systemic retinoids was observed, contrary to what is expected in patients with KRT10 mutation. Even though management is usually unsatisfactory, some patients with this lifelong and serious condition may experience improvement with age.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4