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Diffuse nonepidermolytic palmoplantar keratoderma(NEPPK)

MedGen UID:
371463
•Concept ID:
C1833030
•
Disease or Syndrome
Synonyms: NEPPK; Nonepidermolytic palmoplantar hyperkeratosis; Nonepidermolytic palmoplantar keratoderma
 
Gene (location): KRT1 (12q13.13)
 
HPO: HP:0007404
Monarch Initiative: MONDO:0010962
OMIM®: 600962

Definition

Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. [from HPO]

Clinical features

From HPO
Diffuse nonepidermolytic palmoplantar keratoderma
MedGen UID:
371463
•Concept ID:
C1833030
•
Disease or Syndrome
Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse nonepidermolytic palmoplantar keratoderma

Conditions with this feature

Diffuse nonepidermolytic palmoplantar keratoderma
MedGen UID:
371463
•Concept ID:
C1833030
•
Disease or Syndrome
Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.
See: Condition Record
Diffuse nonepidermolytic palmoplantar keratoderma

Recent clinical studies

Diagnosis

What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome).
Koumantaki E, Gregoriou S, Kakrida M, Christofidou E, Katsambas A
Cutis 2010 Apr;85(4):180, 189-90. PMID: 20486455
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E
Arch Dermatol 2005 May;141(5):625-8. doi: 10.1001/archderm.141.5.625. PMID: 15897387
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ
Circulation 1998 May 26;97(20):2049-58. doi: 10.1161/01.cir.97.20.2049. PMID: 9610536

Clinical prediction guides

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E
Arch Dermatol 2005 May;141(5):625-8. doi: 10.1001/archderm.141.5.625. PMID: 15897387
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ
Circulation 1998 May 26;97(20):2049-58. doi: 10.1161/01.cir.97.20.2049. PMID: 9610536

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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