January 1977 in “Case Reports in Medicine” Steroid cell tumors in the ovary are rare, can produce testosterone causing symptoms, and are mainly treated with surgery.
5 citations
,
June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
9 citations
,
January 2007 in “Gynecological Endocrinology” A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
21 citations
,
January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
July 2012 in “Medical Hypotheses” Artemis dysfunction might cause hair loss through telomere shortening.
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.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
12 citations
,
May 2009 in “Ophthalmic plastic and reconstructive surgery” Multiple pilomatrixoma may indicate Turner syndrome.
20 citations
,
October 2005 in “Archives of Dermatological Research” ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
April 1977 in “Pediatric Research” November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
1 citations
,
February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
11 citations
,
January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
June 2025 in “Journal of Ovarian Research” Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
13 citations
,
July 2016 in “Pediatric Dermatology” Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
101 citations
,
August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
1 citations
,
June 2023 in “Turkish Journal of Surgery” A rare case linked complete hair loss to both pancreas and gallbladder cancer.
1 citations
,
November 2014 in “British journal of medicine and medical research” PCOS and related metabolic issues often run in families.
2 citations
,
January 1986 in “Dermatology” A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.