May 2021 in “Our Dermatology Online” A woman with a rare scalp condition causing a thick scalp and hair loss didn't improve with steroid treatment.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
7 citations
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September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
January 2022 in “Dermatology Review” EGFR inhibitors can cause unusual localized hair growth.
37 citations
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March 1998 in “Lupus” Aggressive SLE treatment helped hair regrowth and improved oral plaque, but scalp lesions stayed.
1 citations
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March 2024 in “Oxford Medical Case Reports” Moth-eaten hair loss can be a sign of syphilis.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
February 2013 in “Journal of the American Academy of Dermatology” 1 citations
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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
1 citations
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October 2019 in “Epileptic disorders” A girl with Pitt-Hopkins syndrome developed curly hair as a rare side effect from the epilepsy drug perampanel.
4 citations
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February 2001 in “PubMed” A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
1 citations
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July 2025 in “Dermatology Reports” Syphilis treatment resolved hair loss and eye symptoms, highlighting its importance in diagnosing unusual alopecia.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
32 citations
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January 2015 in “Annals of diagnostic pathology” The document concludes that recognizing oral lesions is important for diagnosing syphilis.
3 citations
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March 2017 in “Case Reports in Dermatology” A woman with lupus improved significantly from scalp hair loss after treatment, highlighting the need to identify psoriatic alopecia in lupus patients to avoid permanent hair loss.
January 2025 in “Indian Journal of Paediatric Dermatology” A 4-year-old had a rare type of hair loss that may have a good outcome.
1 citations
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January 2015 in “Journal of Arthritis” Lupus pneumonitis can mimic tuberculosis and should be considered in diagnoses.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
December 2025 in “Portuguese Journal of Dermatology and Venereology” Erosive palmoplantar lichen planus in North-East India mainly affects the feet and often involves nails, with unique inflammatory skin changes.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
3 citations
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February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
July 2025 in “Case Reports in Dermatology” Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
June 2017 in “Journal of The American Academy of Dermatology” Most men with lichen planopilaris had it confirmed by biopsy and often had thyroid issues, sexual dysfunction, or prostate cancer, hinting at a link with hormonal problems.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
September 2021 in “CRC Press eBooks” Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.