October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
1 citations
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July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
22 citations
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June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
3 citations
,
March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
30 citations
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
12 citations
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January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
July 2025 in “Case Reports in Dermatology” Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
2 citations
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April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
9 citations
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September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
12 citations
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April 1998 in “The Journal of Dermatology” Pretibial myxedema can occur with Graves' disease, showing skin changes like waxy plaques and swelling.
January 2022 in “Clinical Cases in Dermatology” A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
17 citations
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June 2016 in “Archives de Pédiatrie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
1 citations
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August 2019 Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.