13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
6 citations
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February 1985 in “Archives of Dermatology” Systemic corticosteroids can cause unusual skin issues in people with juvenile rheumatoid arthritis.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
36 citations
,
November 2000 in “Journal of the American Academy of Dermatology” A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
2 citations
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August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
27 citations
,
June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
18 citations
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June 2014 in “Anais Brasileiros de Dermatologia” Clouston Syndrome can be linked to rare sweat gland tumors.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
October 2024 in “Journal of the Endocrine Society” Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
2 citations
,
January 1986 in “Dermatology” A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
May 2022 in “CMAJ. Canadian Medical Association journal” Rosella C. believes an earlier diagnosis of Cushing disease could have prevented severe symptoms.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
2 citations
,
January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
2 citations
,
February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
36 citations
,
January 1994 in “Cell and Tissue Research”
15 citations
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January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
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.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.