Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type

Crombie, Jennifer; Greenlaw, Sheila M.; Fenner, Julie A.; Lyle, Stephen; Wiss, K

doi:10.1016/j.jaad.2011.10.013

Cited by 2 publications

(5 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A range of hair evaluation methods were used to diagnose alopecia. Only one study employed trichoscopy, one study performed the hair pull test alongside trichogram examination, and one study performed trichogram examination only . For scalp pathology, 13 out of 29 cases were sent for vertical biopsies, potentially inclusive of some horizontal sections that were not made explicit in the methods.…”

Section: Resultsmentioning

confidence: 99%

“…Keratin 5 (K5) and keratin 14 (K14) form the primary keratin pair of epidermal keratinocytes, which are also expressed strongly in the basal layer and follicular outer root sheath (ORS) . Diffuse nonscarring alopecia has been reported in eight cases of EBS which all share monoallelic mutations in the KRT5 or KRT14 genes encoding K5 and K14, respectively . Among these cases, noncicatricial alopecia in siblings with EBS with mottled pigmentation could be a common yet overlooked feature of this rare EBS subtype or a unique characteristic altered by unknown factors such as a modifier gene within the family .…”

Section: Discussionmentioning

confidence: 99%

“…Despite only being present in two of four aforementioned family members, two unrelated patients from Portugal and Poland, respectively, with loose anagen hair syndrome (LAHS) had the same base pair K14 mutation in the N123S gene, on a background of Dowling‐Meara type EBS .…”

Section: Discussionmentioning

confidence: 99%

“…LAHS is diagnosed by the painless extraction of anagen hairs from the scalp that lack an ORS and have ruffled cuticles distal to a misshapen bulb . Given its possible role in trichocyte differentiation, mutations in K14 could potentially contribute to hair disorders such as LAHS . However, the pathogenesis of LAHS has been associated with structural abnormalities in the inner root sheath too, so another keratin may play a role in the process .…”

Section: Discussionmentioning

confidence: 99%

“…Given its possible role in trichocyte differentiation, mutations in K14 could potentially contribute to hair disorders such as LAHS . However, the pathogenesis of LAHS has been associated with structural abnormalities in the inner root sheath too, so another keratin may play a role in the process . Other than a mutation in keratin 75 that has been identified in a few cases of LAHS, hair keratin mutations have not been found in other cases of LAHS.…”

Section: Discussionmentioning

confidence: 99%

See 4 more Smart Citations

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

Xie

Temel

Alrub

et al. 2019

Pediatric Dermatology

View full text Add to dashboard Cite

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.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

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

Xie

Temel

Alrub

et al. 2019

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

Alopecia in Autoimmune Blistering Diseases: A Systematic Review of Pathogenesis and Clinical Features of Disease

Xie

Bilgic-Temel

Alrub

et al. 2019

Skin Appendage Disord

View full text Add to dashboard Cite

Background: Autoimmune blistering diseases (AIBD) are characterised by the body’s production of autoantibodies against structural proteins in the epidermis and/or the basement membrane on cutaneous and mucosal surfaces. Alopecia is a complication of AIBD that has generally been overlooked in patients with severe blistering diseases because it is regarded as a cosmetic issue. Yet recent research into quality of life tools has found that stigmatisation by appearance plays a significant role in blistering diseases. Aim: To review the current literature detailing the pathogenesis and clinical presentations of alopecia in AIBD patients. Method: We searched Medline, PubMed and EMBASE electronic databases up to September 2018, for empirical human and animal studies. Results: Only 36 human studies including 223 patients (190 pemphigus, 25 pemphigoid, 5 epidermolysis bullosa acquisita, 2 dermatitis herpetiformis and 1 linear IgA disease) detailed demographic and clinical manifestations of alopecia. A range of hair evaluation methods was demonstrated to reach alopecia diagnosis. Furthermore, with no universal validated scoring system for alopecia severity, alopecia patterns have been summarised. Conclusion: Previous randomised trials have not highlighted alopecia as an important outcome of AIBD, so epidemiological evaluation of the available literature has been helpful in summarising trends between existing studies and demonstrating inconsistencies.

show abstract

Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type

Cited by 2 publications

References 7 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

Alopecia in Autoimmune Blistering Diseases: A Systematic Review of Pathogenesis and Clinical Features of Disease

Contact Info

Product

Resources

About