Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome.
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.
Micali
Giuseppe
G
University of Catania School of Medicine, Catania, Italy. cldermct@nti.it
Nasca
Maria Rita
MR
Innocenzi
Daniele
D
Frasin
Lucretia A
LA
Radi
Orietta
O
Parma
Pietro
P
Camerino
Giovanna
G
Schwartz
Robert A
RA
D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D003241:Consanguinity; D050171:Dyslipidemias / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010510:Periodontal Diseases / Q000235:genetics; D025064:Sex Chromosome Disorders / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D013737:Testis / Q000002:abnormalities