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

Abstract

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.

Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

“…This is in contrast to previous reports of alopecia associated with LAMB3 and heterozygous COL7A1 mutations 21 . Similarly, alopecia was extremely rare among EBS patients, in contrast to previous reports of non‐scarring alopecia among EBS patients carrying either KRT5 or KRT14 mutations, explained by the strong expression of keratins 5/14 in the basal layer and follicular outer root sheath 22 …”

“…21 Similarly, alopecia was extremely rare among EBS patients, in contrast to previous reports of non-scarring alopecia among EBS patients carrying either KRT5 or KRT14 mutations, explained by the strong expression of keratins 5/14 in the basal layer and follicular outer root sheath. 22 Enamel hypoplasia, teeth pitting and caries are additional clinical features typical for JEB. Dental enamel defects occur in all forms of JEB due to impaired adhesion of the ameloblasts in the odontogenic epithelium.…”

Development and validation of educational hypermedia for family members and caregivers of people with epidermolysis bullosa

“…Epidermolysis bullosa (EB) is a group of rare genetic skin diseases, of hereditary character, caused by several mutations in structural proteins responsible for intraepidermal and dermoepidermal adhesion of the skin. It causes the appearance of blisters in the cutaneomucosal region of the body in response to minimal trauma, heat, or spontaneously, which can manifest themselves at birth or during the first years of life (1) .…”

Desenvolvimento e validação de hipermídia educativa para familiares e cuidadores de pessoas com epidermólise bolhosa

“…A epidermólise bolhosa (EB) é um grupo de doenças cutâneas genéticas raras, de caráter hereditário, ocasionada por várias mutações em proteínas estruturais responsáveis pela adesão intraepidérmica e dermoepidérmica da pele. Isso provoca o aparecimento de bolhas na região cutaneomucosa corporal, em resposta ao trauma mínimo, ao calor, ou de modo espontâneo, podendo manifestar-se ao nascimento ou durante os primeiros anos de vida (1) .…”