18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
January 2021 in “International journal of medical science and health research” A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
February 2024 in “Rheumatology & autoimmunity” Lupus can cause unusual vision problems, so it's important to consider it in such cases.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
15 citations
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April 2016 in “Medicine” SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.
Removing SIX1 in fat cells reduces skin fibrosis.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
7 citations
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January 2014 in “Case reports in pediatrics” A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
21 citations
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
November 2022 in “JAAD case reports” The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
4 citations
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August 2002 in “British Journal of Ophthalmology” Surgical excision is the best treatment for SCC.
January 2026 in “British Journal of Clinical Pharmacology” Serenoa repens may cause long-lasting sexual and psychiatric side effects.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
4 citations
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July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
3 citations
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July 2014 in “QJM” A 35-year-old man had patchy hair loss that was actually due to syphilis, not alopecia areata.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
October 2023 in “CHEST Journal” Early recognition and treatment of severe SLE symptoms can improve outcomes.
May 2024 in “JAAD Case Reports” A young man was diagnosed with a rare hair loss condition usually seen in older women.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.