Diffuse nonepidermolytic palmoplantar keratoderma(NEPPK)

MedGen UID:: 371463
•Concept ID:: C1833030
•: Disease or Syndrome

Synonyms:	NEPPK; Nonepidermolytic palmoplantar hyperkeratosis; Nonepidermolytic palmoplantar keratoderma

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Abnormality of limbs
- Diffuse nonepidermolytic palmoplantar keratoderma

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDiffuse nonepidermolytic palmoplantar keratoderma

Abnormality of the upper limb
- Abnormality of the hand
  - Abnormal palm morphology
    - Abnormal skin morphology of the palm
      - Palmar hyperkeratosis
        Palmoplantar keratosis
        Diffuse 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

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