Two cases of hereditary keratoderma with congenital glaucoma.
Two cases are reported: a father and son with a new syndrome consisting of a severe congenital glaucoma associated with a form of palmoplantar keratoderma showing features of mutilating palmoplantar keratoderma. Both the glaucoma and keratoderma may be attributed to an autosomal dominantly inherited genetic mutation of a single chromosome affecting two tissues of neural crest origin, the ectodermal tissues of the hands and feet and the cranial mesenchyme from which the tissues of the chamber angle develop. Elucidation of the precise chromosomal abnormality causing these defects may help in understanding the inheritance and aetiology of glaucoma.
Slade
M P
MP
Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Brooks
A M
AM
Gillies
W E
WE
D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D003316:Corneal Diseases / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male