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Isolated focal non-epidermolytic palmoplantar keratoderma(FNEPPK2)

MedGen UID:
895056
Concept ID:
C4225339
Disease or Syndrome
Synonym: Palmoplantar keratoderma, nonepidermolytic, focal 2
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): TRPV3 (17p13.2)
 
Monarch Initiative: MONDO:0014622
OMIM®: 616400
Orphanet: ORPHA448264

Definition

A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis. [from ORDO]

Clinical features

From HPO
Patchy palmoplantar hyperkeratosis
MedGen UID:
867273
Concept ID:
C4021633
Disease or Syndrome
A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated focal non-epidermolytic palmoplantar keratoderma

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