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Palmoplantar keratoderma, Bothnian type(PPKB)

MedGen UID:
325011
Concept ID:
C1838359
Disease or Syndrome
Synonym: Diffuse palmoplantar keratoderma, Bothnian type
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): AQP5 (12q13.12)
 
Monarch Initiative: MONDO:0010849
OMIM®: 600231
Orphanet: ORPHA2337

Definition

Hereditary palmoplantar keratoderma (PPK) 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 (PPKB), 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 (EPPK; 144200). For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). [from OMIM]

Clinical features

From HPO
Diffuse palmoplantar hyperkeratosis
MedGen UID:
7201
Concept ID:
C0022584
Disease or Syndrome
Diffuse abnormal thickening of the skin on the palms and soles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmoplantar keratoderma, Bothnian type
Follow this link to review classifications for Palmoplantar keratoderma, Bothnian type in Orphanet.

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