October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
11 citations
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August 2018 in “Facial Plastic Surgery Clinics of North America” Adipose-derived stem cells show potential for skin rejuvenation and wound healing but require more research to overcome challenges and ensure safety.
7 citations
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January 2007 in “PubMed” Videodermoscopy is a helpful, non-invasive tool for accurately diagnosing hair and scalp disorders.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
October 2021 in “Acta Scientific Medical Sciences” A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
4 citations
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August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
15 citations
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May 2010 in “Actas Dermo-Sifiliográficas” Balding men have higher heart disease risk.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
42 citations
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August 1999 in “The American journal of pathology” Basal cell carcinomas have much higher levels of Vitamin D3 receptors compared to healthy skin.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
28 citations
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March 2017 in “Endocrinology” Removing vitamin D and calcium receptors in mice skin cells slows down skin wound healing.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
May 2021 in “Indian journal of forensic medicine and toxicology” Two patients with heart issues had successful surgeries and improved symptoms.
January 2025 in “International Journal of Dermatology” Better diagnostic tools and treatment guidelines are needed for segmental vitiligo and related pigment issues.
16 citations
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April 2000 in “Journal of Investigative Dermatology” The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
38 citations
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February 2009 in “Journal of The European Academy of Dermatology and Venereology” Severe vertex pattern hair loss may indicate a higher risk for artery plaque buildup.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
February 2025 in “Journal of the American Academy of Dermatology” People with androgenetic alopecia may have a higher risk of peripheral venous disorders.
27 citations
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
5 citations
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March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
March 2026 in “Journal of Investigative Dermatology” August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.