Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Autoři	KÝROVÁ Jana KOPEČKOVÁ Lenka BUČKOVÁ Hana MRAZOVA Lenka VESELÝ Karel HERMANOVÁ Markéta OŠLEJŠKOVÁ Hana FAJKUSOVÁ Lenka
Rok publikování	2016
Druh	Článek v odborném periodiku
Časopis / Zdroj	JOURNAL OF DERMATOLOGICAL CASE REPORTS
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
www	http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5385263&blobtype=pdf
Doi	http://dx.doi.org/10.3315/jdcr.2016.1231
Klíčová slova	epidermolysis bullosa; muscular dystrophy; mutation; neuromuscular disorder; plectin; review
Popis	Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. Main observations: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement. Conclusion: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases.