Compound heterozygous <i><scp>PLEC</scp></i> mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia

Yin, Jinghua; Ren, Yali; Lin, Zheguang; Wang, Huijun; Zhou, Yun; Yong, Yang

doi:10.1111/ijd.12655

Cited by 13 publications

(8 citation statements)

References 11 publications

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“…Plectin is expressed in hemidesmosomes within the cutaneous BMZ as well as in the sarcolemma and sarcomeres of the muscle and can lead to EBS‐MD when it is underexpressed . Specifically, truncated mutations in PLEC restricted to exon 31, which encodes the rod domain, account for the EBS‐MD phenotype, whereas truncated mutations beyond exon 31 lead to the absence or attenuated expression of plectin in all domains and thus a more severe phenotype of EBS with pyloric atresia (EBS‐PA) . In 1999, Shimizu et al compared four unrelated Japanese patients with EBS‐MD and reviewed six additional cases with defined plectin gene mutations reported in the literature to try and elucidate clearer phenotype‐genotype correlations.…”

Section: Discussionmentioning

confidence: 99%

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

Xie

Temel

Alrub

et al. 2019

Pediatric Dermatology

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Background Epidermolysis bullosa (EB) is a group of rare genetic skin diseases characterized by the gene mutations encoding adhesion proteins within the skin. These adhesion proteins are also present in normal hair follicles. Anecdotally, there have been reports of scalp alopecia as a complication of EB and there are scattered cases in the literature, but alopecia has generally been overlooked in severe blistering diseases because it is regarded as a cosmetic issue. Therefore, there is no consensus about the natural history and clinical manifestations of alopecia in EB to allow potential intervention. Objectives To review the current literature detailing the pathogenesis and clinical presentations of alopecia in EB patients. Methods Relevant human studies were searched in Medline, PubMed, and EMBASE electronic databases up to October 2018. Results Only 15 reports detailed 29 EB patients with demographic and clinical manifestations of alopecia. Vertical biopsy sections were the most common method of alopecia diagnosis, and the most common pattern was patchy scalp alopecia (45%) followed by diffuse alopecia (41%). The most robust finding was nonspecific scarring alopecia in all dystrophic EB (DEB) patients and nonspecific nonscarring alopecia in most patients with EB simplex (EBS). Conclusions Hair abnormalities observed in EB are of variable severity despite there being no universal validated alopecia scoring system, with alopecia occurring secondary to blistering, or in areas prone to trauma.

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Section: Discussionmentioning

confidence: 99%

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

Xie

Temel

Alrub

et al. 2019

Pediatric Dermatology

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“…To our knowledge, the present case corresponds to the second one of EBS-MD and diffuse alopecia, described in the literature, with a novel mutation in PLEC gene [c.7159G > T (p.Glu2387*)]. The other case is a compound heterozygous for two different mutations in exon 31 [c.4924C > T (p.Gln1642*) and c.6955C > T (p.Arg2319*); Table 1 ] [ 10 ]. On the other hand, EBS-MD and partial scarring alopecia was observed in only two patients [ 11 ].…”

Section: Discussionmentioning

confidence: 71%

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

et al. 2018

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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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“…We report a case of EBS-MD related to a homozygous in-frame deletion mutation in the PLEC gene. 7 Hoarseness and alopecia, rarely reported, were main complaints. 7 Neither cardiac nor respiratory compromise was evident.…”

Section: Discussionmentioning

confidence: 99%

“… 7 Hoarseness and alopecia, rarely reported, were main complaints. 7 Neither cardiac nor respiratory compromise was evident. The clue to diagnosis was the patient's history of neonatal blisters.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

et al. 2016

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Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia

Cited by 13 publications

References 11 publications

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

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

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

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

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