Cutaneous manifestations in Steinert ’s disease. Apropos of four clinical cases.

Cutaneous manifestations in Steinert’s disease. Apropos of four clinical cases. J Biol Regul Homeost Agents. 2017 07 13;31(2 Suppl. 2) Authors: Cona F, Lotti J, Fioranelli M, Roccia MG, Lotti T, Guarneri C Abstract Myotonic dystrophy type 1 (MD1) (OMIM 160900, Steinert disease) is the most common muscular disease, with an estimated worldwide prevalence ranging from 0.5 to 18/10,000 (1). MD1 is an autosomal dominant multisystem disorder that affects skeletal and smooth muscles as well as eyes, heart, endocrine system, and central nervous system. Available data on skin and adnexal involvement that has been demonstrated as a hallmark of the neurological disease are still poor. The aim of this case report-based, mini review on MD1 and skin is to highlight the importance of such superficial signs to be easily detected in the physical examination, and to evaluate the occurrence of these cutaneous manifestations in presence of various degrees of the disease and gene mutations. PMID: 28702961 [PubMed - as supplied by publisher]
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research