Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait.
Description is given of two sisters, offspring of a first cousin marriage, who exhibited the following identical lesions: 1) cysts of the borders of upper and lower lids; 2) hypodontia; 3) hypotrichosis; 4) palmo-plantar keratosis and 5) onychodystrophy. It is suggested that this combination represents a previously unrecognized autosomal recessive trait in man.
D000368:Aged; D000505:Alopecia / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D003241:Consanguinity; D003560:Cysts / Q000235:genetics* / Q000473:pathology; D005141:Eyelid Diseases / Q000235:genetics* / Q000473:pathology; D005143:Eyelids / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics; D010375:Pedigree; D013577:Syndrome