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- Title
Bullous congenital ichthyosiform erythroderma of Brocq.
- Authors
Kucharekova, Martina; Mosterd, Klara; Winnepenninckx, Veronique; van Geel, Michel; Sommer, Anja; van Steensel, Maurice A. M.
- Abstract
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK, OMIM 113800) is characterized by erythroderma and blistering at birth, leading to generalized hyperkeratosis of varying severity in adulthood. Clinically, BCIE can be divided into two groups: BCIE with or without palmoplantar involvement, associated with mutations in keratin 1 or keratin 10, respectively. Here we report a newborn with generalized erythema, blistering and erosions at the time of birth. No hyperkeratosis was seen on the palms and soles. The lack of palmoplantar involvement suggested that keratin 10 could be involved. DNA analysis showed a known mutation in the keratin 10 gene.
- Subjects
SKIN diseases; GENETIC mutation; ERYTHEMA; ADULTS; BLISTERS; KERATIN
- Publication
International Journal of Dermatology, 2007, Vol 46, p36
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/j.1365-4632.2007.03510.x