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Isolated focal palmoplantar keratoderma

MedGen UID:
1842609
•Concept ID:
C5679962
•
Disease or Syndrome
Synonyms: Isolated focal keratosis palmoplantaris; Isolated focal palmoplantar hyperkeratosis; Isolated focal PPK
 
Orphanet: ORPHA307846

Term Hierarchy

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

Recent clinical studies

Etiology

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.
Milingou M, Wood P, Masouyé I, McLean WH, Borradori L
Dermatology 2006;212(2):117-22. doi: 10.1159/000090651. PMID: 16484817

Diagnosis

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article

Prognosis

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article

Clinical prediction guides

Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.
Milingou M, Wood P, Masouyé I, McLean WH, Borradori L
Dermatology 2006;212(2):117-22. doi: 10.1159/000090651. PMID: 16484817

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