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

Giuseppe Micali, Maria Rita Nasca, Daniele Innocenzi, Lucretia A. Frasin, Orietta Radi, Pietro Parma, Giovanna Camerino, Robert A. Schwartz

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)S234-S239
JournalJournal of the American Academy of Dermatology
Volume53
Issue number5 SUPPL.
DOIs
StatePublished - Nov 2005

ASJC Scopus subject areas

  • Dermatology

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