October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
April 2022 in “Our Dermatology Online” A woman had unusual hair growth on one side of her chin without a known cause.
2 citations
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January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
14 citations
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June 2024 in “Clinical Reviews in Allergy & Immunology” People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
13 citations
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September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
41 citations
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April 2010 in “Gender Medicine” The conclusion is that hirsutism should be diagnosed and treated because it affects quality of life and may signal other health problems.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
October 2025 in “The American Journal of Gastroenterology” Infliximab can cause SAPHO syndrome, which may improve with Spesolimab and methotrexate.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
April 2019 in “Journal of the Endocrine Society” Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
33 citations
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April 2020 in “Journal of Clinical Investigation” Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
9 citations
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March 2001 in “Clinics in dermatology” Hirsutism in women is often due to hormone sensitivity and has significant psychological effects.
53 citations
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October 1984 in “Endocrine reviews” Excessive hair growth in women often has no known cause and is not linked to race or other hormonal symptoms.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
1 citations
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July 2025 in “Dermatology Reports” Syphilis treatment resolved hair loss and eye symptoms, highlighting its importance in diagnosing unusual alopecia.