Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46, XX Sex Reversal

The disease was first described in 2005 in a consanguineous family from South Italy (Radi et al. 2005; Micali et al. 2005). Multiple individuals in this family had palmoplantar keratoderma (PPK), squamous cell carcinoma (SCC) superimposed on the affected areas of the hand and feet, dental anomalies, and female to male sex reversal (Radi et al. 2005). The family consisted of normal consanguineous parents (first cousins) with ten offsprings; five normal females, four XX males with different degrees of genitalia ambiguity and gonadal development accompanied by PPK, SCC, and dental anomalies, and one true male with PPK and SCC. Formerly, one of these siblings was reported by Guerriero et al. as a case of Huriez syndrome (2000). Another nonrelated patient with similar features was also misdiagnosed as Huriez syndrome by Vernole et al. (2000).