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.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
234 citations
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November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
9 citations
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February 2023 in “Medicine” Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.
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.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
Higher bad cholesterol levels are linked to more severe female pattern hair loss.
32 citations
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August 2003 in “Journal of the European Academy of Dermatology and Venereology” cGVHD often severely affects the skin, causing rapid aging and other issues.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
3 citations
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
Integrating ABI screening in clinics can improve patient care for those at risk of peripheral artery disease.
190 citations
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July 2006 in “Experimental Dermatology” The hedgehog signalling pathway is key in skin development and basal cell carcinoma, offering insights for prevention and treatment.
26 citations
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September 1999 in “Canadian Journal of Botany” The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
4 citations
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November 2021 in “Frontiers in endocrinology” Children and adults with Cushing's disease show different symptoms and males have more severe cases; surgery outcomes can be predicted by certain factors.
February 2025 in “La Pediatria Medica e Chirurgica” The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
25 citations
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April 1972 in “American Journal of Clinical Nutrition” Hair chromium levels show past nutritional status, not environmental exposure.
March 2026 in “Journal of Investigative Dermatology” CCCA can occur in children and needs early diagnosis to prevent permanent hair loss.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
25 citations
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September 2010 in “Journal of Cutaneous Medicine and Surgery” The study found that Central Centrifugal Cicatricial Alopecia mainly affects middle-aged African descent women, is linked to certain hair care practices and genetics, and often goes undiagnosed for years.
2 citations
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February 2000 in “International Journal of Dermatology” Hepatitis C and alcohol abuse may lead to porphyria cutanea tarda.
June 2025 in “Academic Medical Journal” High homocysteine levels in lupus may increase inflammation and cardiovascular risk.