G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

Abstract

Congenital muscular dystrophy (CMD) associated with familial junctional epidermolysis bullosa is a rare autosomal recessive disorder caused by mutation in the plectin gene located on chromosome 8q24.3. The first clinical symptoms manifest themselves at about 15days of life, when first blisters and erosions (very often haemorrhagic) develop on patient’s extremities, their back and face. Skin manifestations usually do not progress over time and skin fragility seems to be mild. The first symptoms of muscle weakness tend to manifest at the end of the first decade; gradual progression leads to patient’s disability and being bound to a wheelchair; around the age of 30, patients die because of weak respiratory muscles. Diagnosing of this disease is based on clinical features, findings in skin and muscle biopsies, and results of genetic testing for mutations in the plectin gene. Case report: boy (aged 14) has been monitored from birth at the Department of Paediatric Dermatology at University Hospital Brno for haemorrhagic blisters manifesting especially on his legs. His original diagnosis was epidermolysis bullosa simplex. From the age of 10, he has had difficulties with walking, from the age of 12 he has been using an electric wheelchair. The patient was hospitalized in December 2010 (aged 13) at the Department of Paediatric Neurology, where he underwent detailed examination including brain magnetic resonance, skin and muscle biopsies. The muscle biopsy revealed a severe myogenic lesion, consistent with muscular dystrophy with inflammatory features; the results of morphological testing as well as the analysis of proteins expression in muscle tissue were compatible with the diagnosis of CMD with EB. Subsequently, this diagnosis was also confirmed on a molecular genetic level. Direct sequencing of the plectin gene revealed c.5902_5903delAA and c.9109del17 mutations, disrupting translational reading frame. Both of these pathogenic mutations have not been reported yet.