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BMC Dermatol. 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x.

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

Author information

1
Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Av. D. Manuel I, 9500-370, Ponta Delgada, São Miguel Island, Azores, Portugal.
2
The National Diagnostic EB Lab, St Thomas' Hospital, London, UK.
3
BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisbon, Portugal.
4
Instituto Gulbenkian de Ciência, Oeiras, Portugal.
5
Internal Medicine Department, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta Delgada, Azores Islands, Portugal.
6
Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Av. D. Manuel I, 9500-370, Ponta Delgada, São Miguel Island, Azores, Portugal. Luisa.MQ.Vieira@azores.gov.pt.
7
BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisbon, Portugal. Luisa.MQ.Vieira@azores.gov.pt.
8
Instituto Gulbenkian de Ciência, Oeiras, Portugal. Luisa.MQ.Vieira@azores.gov.pt.

Abstract

BACKGROUND:

Epidermolysis 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 PRESENTATION:

The 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.

CONCLUSION:

The 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.

KEYWORDS:

Alopecia; Azores; Clinical dermatology; Epidermolysis bullosa

PMID:
29352809
PMCID:
PMC5775598
DOI:
10.1186/s12895-018-0069-x
[Indexed for MEDLINE]
Free PMC Article

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