Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Orpha code: 86923OMIM code: 244850

Definition

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.

Disease data
Classification

Disease

Synonyms
Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
Dziedziczna hiperkeratoza dłoniowo-podeszwowa typu Gamborga i Nielsena
PPK, typ Gamborga i Nielsena
PPK, Gamborg-Nielsen type
ORPHA code
86923
OMIM code
244850
ICD10 code
Q82.8
ICD11 code
-

No additional description.

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