U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal

MedGen UID:
502891
•Concept ID:
C3502495
•
Disease or Syndrome
Synonym: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL
 
OMIM®: 609595

Recent clinical studies

Etiology

RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
Dellambra E, Cordisco S, Delle Monache F, Bondanza S, Teson M, Nicodemi EM, Didona B, Condorelli AG, Camerino G, Castiglia D, Guerra L
Orphanet J Rare Dis 2022 Jul 19;17(1):275. doi: 10.1186/s13023-022-02434-2. PMID: 35854363Free PMC Article

Diagnosis

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Tallapaka K, Venugopal V, Dalal A, Aggarwal S
Am J Med Genet A 2018 Apr;176(4):1006-1010. doi: 10.1002/ajmg.a.38646. PMID: 29575617

Supplemental Content

Table of contents

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...