Palmoplantar keratoderma, bothnian type

Preferred Label : Palmoplantar keratoderma, bothnian type;

Symbol : PPKB;

CISMeF acronym : PPKB;

Type : Phenotype, molecular basis known;

Description : Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (144200). For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).;

Inheritance : Autosomal dominant (12q11-q13);

Prefixed ID : #600231;

Détails

Origin ID

600231;

UMLS CUI

C1838359;

DO Cross reference
- Bothnian type palmoplantar keratoderma [DO Concept]
Genes related to phenotype
- Aquaporin 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Diffuse palmoplantar hyperkeratosis [HPO term]
- Diffuse palmoplantar keratoderma [HPO term]
ORDO concept(s)
- Non-epidermolytic palmoplantar keratoderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diffuse palmoplantar keratoderma, Bothnian type [MeSH concept]
- diffuse palmoplantar keratoderma, bothnian type [MeSH Supplementary Concept]

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