22 citations
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June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
26 citations
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September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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.
September 2025 in “Anti-Aging Eastern Europe” PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
12 citations
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March 2015 in “Pediatric Dermatology” Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
October 2024 in “Journal of the Endocrine Society” Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
5 citations
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January 2021 in “Indian Journal of Pathology and Microbiology” A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
February 2022 in “Obstetrics and gynaecology cases - reviews” PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
October 2023 in “Clinical case reports” A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
1 citations
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
March 2021 in “Research Square (Research Square)” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
2 citations
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January 2017 in “International Journal of Trichology” Trichoscopy can reveal specific hair and scalp changes in linear morphea.
2 citations
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January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
2 citations
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January 2001 in “Humana Press eBooks” Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.