The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13
- Umea Univ. (Sweden)
Hereditary palmoplantar keratoderma (PPK) consists of a heterogeneous group of skin disorders characterized by hyperkeratosis (thickening of the uppermost layer of the epidermis, the stratum corneum), primarily of the palms and soles. Autosomal dominant diffuse PPK has been considered to exist in two types that are clinically similar but microscopically distinguishable: epidermolytic PPK and non-epidermolytic PPK. Recently, though, the existence of a purely hyperkeratotic PPK has been questioned. However, autosomal dominant diffuse non-epidermolytic PPK is a frequent disorder in Northern Sweden with a reported prevalence of 0.3-0.55% among school children. This Swedish variant of PPK does not show any sign of epidermolytic hyprekeratosis but instead the patients exhibit frequent dermatophyte infections, a complication rarely seen in epidermolytic PPK. We have examined two Swedish families with PPK and localized the causative genetic defect to a 14 cM interval on chromosome 12q11-q13, a region known to contain the keratin type II gene cluster as well as the retionic acid receptor {gamma} gene. The PPK variant investigated here is thus both clinically and genetically different from epidermolytic palmoplantar keratoderma which recently has been shown to result from mutations on chromosome 17q in the gene for the type I keratin 9.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 134063
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0799
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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