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Keratosis palmoplantaris striata 3(PPKS3)

MedGen UID:
418996
•Concept ID:
C2931123
•
Disease or Syndrome
Synonyms: Keratoderma palmoplantar striate form 3; KERATODERMA, PALMOPLANTAR, STRIATE FORM III; KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3; Striate palmoplantar keratoderma 3; STRIATE PALMOPLANTAR KERATODERMA III
 
Gene (location): KRT1 (12q13.13)
 
Monarch Initiative: MONDO:0011881
OMIM®: 607654

Definition

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. [from MONDO]

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
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Abnormal nail morphology
MedGen UID:
163115
•Concept ID:
C0853087
•
Anatomical Abnormality
Abnormal structure or appearance of the nail.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.
Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C
Genes Genomics 2018 Jul;40(7):789-795. Epub 2018 May 2 doi: 10.1007/s13258-018-0695-z. PMID: 29934816

Diagnosis

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

Therapy

Abnormalities of keratinocyte maturation and differentiation in keratosis palmoplantaris striata. Immunohistochemical and ultrastructural study before and during etretinate therapy.
Fartasch M, Vigneswaran N, Diepgen TL, Hornstein OP
Am J Dermatopathol 1990 Jun;12(3):275-82. doi: 10.1097/00000372-199006000-00009. PMID: 1693821
Keratoderma palmoplantaris striata.
Casado M, Jimenez-Acosta F, Borbujo J, Martinez W, Almagro M, Soto-Melo J
Clin Exp Dermatol 1989 May;14(3):240-2. doi: 10.1111/j.1365-2230.1989.tb00942.x. PMID: 2531641

Prognosis

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.
Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C
Genes Genomics 2018 Jul;40(7):789-795. Epub 2018 May 2 doi: 10.1007/s13258-018-0695-z. PMID: 29934816

Clinical prediction guides

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.
Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C
Genes Genomics 2018 Jul;40(7):789-795. Epub 2018 May 2 doi: 10.1007/s13258-018-0695-z. PMID: 29934816
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E
J Am Acad Dermatol 2010 Jan;62(1):107-113. doi: 10.1016/j.jaad.2009.05.016. PMID: 20082890
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
2 Cases of hereditary palmoplantar keratoderma. An abnormality of keratohyalin granules and keratin fibril formation.
Tezuka T
Dermatologica 1984;169(3):138-45. PMID: 6207058

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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