A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

Abstract

BackgroundEpidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon–intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing.Case presentationThe patient, a 28-year-old female and only child of consanguineous healthy parents, was born after uneventful pregnancy. At 2 days of age, she developed skin and oral mucosal blistering, accompanied by voice hoarseness. On physical examination as an adult, we observed diffuse non-scarring alopecia on the scalp, onychodystrophy (pachyonychia) in all 20 nails, dental decay, mild dysphonia, and severe muscle atrophy mainly affecting the extremities. Neurological examination showed profoundly diminished reflexes. Mutation analysis revealed the patient to be homozygous for the novel PLEC nonsense mutation − c.7159G > T (p.Glu2387*) − located in exon 31. Thismutation predicts the lack of expression of the full-length plectin isoform.ConclusionThe present case appears to be the second association of EBS-MD with diffuse alopecia, both cases having different mutations involving PLEC exon 31. It remains to be elucidated whether diffuse alopecia results from PLEC mutations and/or from environmental factors.

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“…Therefore, it is important to evaluate the long-term effectiveness and drug survival of small molecules such as apremilast. 15 , 16 , 17 , 18 …”

Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review

“…It remains that plectin mutations commonly result in pleiotropic phenotypes, which may explain two recent cases of diffuse nonscarring alopecia associated with EBS‐MD in a 25‐year‐old Chinese woman and 28‐year‐old Portuguese woman . The former case is a product of a consanguineous marriage, and an unusual compound heterozygous for two different mutations in exon 31.…”

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa

“…The oral description of individuals with this subtype of EBS caused by mutations in the gene PLEC encoding plectin includes hemorrhagic blistering of oral mucosa since birth 17 and a case report of micrognathia, high‐arched palate, and poor dentition with erosions 18 …”