John Libbey Eurotext




Hyalinosis cutis et mucosae: a 30 year follow up of a female patient
European Journal of Dermatology. Volume 14, Number 5, 310-3, September-October 2004, Genes and skin
Free Article
Author(s) : Ines BRAJAC, Marija KAŠTELAN, Franjo GRUBER, Zdravko PERIŠ
Summary : Hyalinosis cutis et mucosae is an inherited disease, characterized by deposition of a hyaline-like substance in the dermis and internal organs. In the present study, we report a 30 year follow up in a female patient with hyalinosis cutis et mucosae treated using dermabrasion and oral retinoids. In our opinion, the lesion on uncovered body areas should be corrected as soon as possible to enable a normal psychophysical development. The lesions on skin and oral mucosa may be successfully removed without remission with dermabrasion in early childhood. In addition, oral retinoids in adulthood may produce some improvement.
Keywords : dermabrasion, hyalinosis cutis et mucosae, OMIM 247100, retinoids

Hyalinosis cutis et mucosae: a 30 year follow up of a female patient