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

Abstract

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. (J Der-

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

“…Direct bidirectional SS has been the first diagnostic method for identifying the pathogenic variants in EB. All over the world, similar Sanger‐based protocols have been successful for disclosing causative pathogenic sequence variants in EB genes . Polymerase chain reaction (PCR) products (300–600 bp in size) are generated using gene‐specific primer pairs (sequences have been published for EB genes) covering the coding regions and the exon–intron boundaries.…”

Epidermolysis bullosa with clinical manifestations of sepsis and pneumonia: A case report

“…A 2016 article reported a case of a 19-year-old male presenting with EB along with muscular dystrophy who had skin blisters from birth, bilateral ptosis since the age of 8 years, muscle fatigue and pain during walking since the age of 11 years, depression and aggressive behavior to parents since the age of 15 years, and polyuria since the age of 16 years. EB was diagnosed by muscle dystrophy according to clinical and histopathologic examinations of the patient's skin and skeletal muscles, and a noted pectin gene mutation [6] . He underwent physiotherapy and psychological care.…”

Muscle-Related Plectinopathies

“…No muscular symptoms were reported for the remaining 16 cases at the time of publication, but one might anticipate that these patients will likely also develop muscular weakness later in life. Blood serum creatine kinase (CK) levels have been reported for five EBS-MD cases, with two patients showing normal and three showing increased values [ 18 , 19 , 20 , 21 , 22 ]. Electromyography (EMG) in EBS-MD patients revealed a myopathic pattern with short duration, polyphasic, and low-amplitude motor unit potentials [ 19 , 23 , 24 , 25 ].…”