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

18 citations , January 2018 in “BMC dermatology”

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation

research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.

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

October 2023 in “Pediatric dermatology”

This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin

April 2023 in “Journal of Investigative Dermatology”

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

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

June 2019 in “Pediatric Dermatology”

This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.

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community 5MG finasteride everyday June 1st 2024 - October 7th 2024

in Progress Pictures 182 upvotes 1 year ago

The user has been using 1.25 mg of finasteride daily since June 2024 to promote hair regrowth and thickness, considering switching to dutasteride if results are unsatisfactory. They are hesitant to add minoxidil due to cost and potential side effects but have seen some progress with finasteride alone.

community What is up with all these body dysmorphic posts lately?

in Chat 49 upvotes 1 year ago

The conversation discusses concerns about body dysmorphia related to hair loss, with some users expressing frustration over posts claiming treatments like finasteride and dutasteride are ineffective or harmful despite minimal hair loss. It emphasizes the importance of early treatment with medications like finasteride and minoxidil for those experiencing hair loss.

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