12 citations
,
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.
January 2014 in “International Journal of Trichology” A man had an unusual type of hair loss that didn't match known patterns and didn't improve with treatment.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
November 2022 in “Indian Journal of Dermatology” Azole antifungals can cause skin reactions like EAC, requiring careful management.
October 2020 in “Clinical and Experimental Dermatology” Hair loss improved after removing pituitary tumor.
1 citations
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January 2013 in “Mayo Clinic Proceedings” A woman's chronic headaches and hair loss were cured by treating her syphilis.
3 citations
,
September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
7 citations
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January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
1 citations
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March 2000 in “PubMed” A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
March 2024 in “Arquivos de Ciências da Saúde da UNIPAR” Onyx® embolization effectively treats facial arteriovenous malformations with minimal complications.
December 2020 in “International journal of medical science and clinical invention” Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
20 citations
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April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
Higher alarin levels might link hair loss and metabolic syndrome.
17 citations
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March 2006 in “BJU international” Using buccal mucosa for hypospadias repair in children is effective and reduces complications.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
July 2019 in “Dermatology practical & conceptual” The study found that alopecia areata is strongly linked to autoimmune diseases and may indicate a genetic predisposition to such conditions.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
43 citations
,
May 1988 in “British Journal of Dermatology” Patients with acanthosis nigricans often have insulin resistance and signs of increased male hormones, but treatment targeting these male hormones is generally ineffective.
11 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” Skin problems are common in people with diabetes and controlling blood sugar can reduce these issues.
2 citations
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November 2018 in “Clinical and Experimental Dermatology” Acne is more common in men with male pattern baldness due to increased hormone levels.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
December 2023 in “Curēus” A woman with lupus had rare severe symptoms but improved with treatment.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.