Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome

J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S234-9. doi: 10.1016/j.jaad.2005.02.033.

Abstract

The association of palmoplantar keratoderma (PPK) with the development of cutaneous squamous cell carcinomas (SCCs), dental anomalies, severe hypogenitalism with hypospadias, abnormal development of gonads with ambiguous external genitalia, gynecomastia, altered plasma sex hormones levels, and hypertriglyceridemia has not, to our knowledge, been reported previously. We describe it in 4 brothers with 46,XX karyotype, whereas the 5 sisters of their consanguineous parents were unaffected. This family may represent a new syndrome. The PPK was of the classical nonepidermolytic histologic type. The proband also had a laryngeal carcinoma diagnosed in his early forties and nodular testicular hyperplasia of Leydig cells.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Squamous Cell / genetics*
  • Consanguinity
  • Dyslipidemias / genetics
  • Genetic Linkage
  • Humans
  • Hypogonadism / genetics*
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Periodontal Diseases / genetics
  • Sex Chromosome Disorders / genetics*
  • Skin Neoplasms / genetics*
  • Syndrome
  • Testis / abnormalities

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