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Palmoplantar keratoderma, nonepidermolytic, focal or diffuse(PPKNEFD)

MedGen UID:
816724
•Concept ID:
C3810394
•
Disease or Syndrome
Synonyms: PALMOPLANTAR KERATODERMA, FOCAL OR DIFFUSE; PPKNEFD
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): KRT6C (12q13.13)
 
Monarch Initiative: MONDO:0014327
OMIM®: 615735
Orphanet: ORPHA402003

Disease characteristics

Excerpted from the GeneReview: Pachyonychia Congenita
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Frances JD Smith  |  C David Hansen  |  Peter R Hull, et. al.   view full author information

Additional description

From OMIM
Focal or diffuse nonepidermolytic palmoplantar keratoderma (PPKNEFD) is an autosomal dominant skin disorder in which hyperkeratotic plaques form on palms and soles. Palms may be less affected than soles, with mild nail changes present in some patients. Plaques and blistering may result in severe pain (summary by Wilson et al., 2010).  http://www.omim.org/entry/615735

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
•Concept ID:
C4551675
•
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
See: Feature record | Search on this feature
Oral mucosa leukoplakia
MedGen UID:
9738
•Concept ID:
C0023532
•
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
See: Feature record | Search on this feature
Epidermal acanthosis
MedGen UID:
65136
•Concept ID:
C0221270
•
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
See: Feature record | Search on this feature
Plantar hyperkeratosis
MedGen UID:
341658
•Concept ID:
C1856954
•
Finding
Hyperkeratosis affecting the sole of the foot.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmoplantar keratoderma, nonepidermolytic, focal or diffuse
Follow this link to review classifications for Palmoplantar keratoderma, nonepidermolytic, focal or diffuse in Orphanet.

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