Naslov
Hyalinosis cutis et mucosae: a case report

Autori
Brajac, Ines ; Kaštelan, Marija ; Simonić, Edita ; Palle, Matko ; Čabrijan, Leo ; Gruber, Franjo

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Skup
12th Congress of the European Academy of Dermatology and Venereology

Mjesto i datum
Barcelona, Španjolska, 15.10.2003. - 18.10.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Hyalinosis cutis et mucosae
(hyalinosis cutis et mucosae)

Sažetak
Hyalinosis cutis et mucosae is uncommon, recessively inherited disease, characterized by diffuse deposition of a hyaline-like substance in the dermis, submucosal conective tissue and various internal organs. Clinical features are hoarseness from early infancy and yellowish-white papules in mucous membranes and skin. Disease maps to 1q21 and is probably caused by mutations in the extracellular matrix protein 1 gene. Quality of life is seriously impaired by the disfiguring lesions, functional impairment and the permanent hoarseness. The therapy is mainly symptomatic. Here, we report a 30 years follow up in a female patient with hyalinosis cutis et mucosae. The report deals with the different treatment modalities applied in the same patient, and the course of the disease.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA