October 2023 in “Journal of the Endocrine Society” A woman with Hashimoto's hypothyroidism developed Graves' hyperthyroidism after 20 years, showing these conditions may be linked.
2 citations
,
August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
Women with and without PCOS show no significant differences in psychopathic traits.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
5 citations
,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
2 citations
,
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.
June 2025 in “International Medical Case Reports Journal” Timely diagnosis and treatment of complex autoimmune diseases like APS2 are crucial to prevent complications and improve life quality.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
77 citations
,
January 1989 in “Clinical Infectious Diseases” Toxic Shock Syndrome progresses quickly, often involves multiple organs, and is linked to Staphylococcus aureus toxins, with treatment options available but diagnostic challenges remaining.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” TYK2 inhibition may help treat alopecia areata by promoting hair growth and reducing immune response.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
6 citations
,
April 1985 in “Australasian journal of dermatology” The cause of the syndrome with scalp scaling and hair loss is unknown.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
January 2025 in “International Journal of Dermatology” Tofacitinib improved hair and nail conditions in a teen with alopecia areata.
264 citations
,
October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
November 2023 in “Laser therapy” Trichoscopy is essential for diagnosing and managing alopecia areata in children.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
April 2021 in “Research Square (Research Square)” N-acetylcysteine improved symptoms of trichotillomania and bulimia.
September 2022 in “Dermato” Adult acne is often related to hormonal disorders, especially in women, and may need long-term treatment involving specialists.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
December 2022 in “Zenodo (CERN European Organization for Nuclear Research)” Tofacitinib effectively treated severe alopecia areata in a 14-year-old girl.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
9 citations
,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
23 citations
,
November 2024 in “Scientific Reports” Higher thyroid antibodies in Hashimoto's thyroiditis are linked to more inflammation and symptoms.