April 2020 in “Journal of the Endocrine Society” A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
27 citations
,
October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
40 citations
,
November 2019 in “Frontiers in Endocrinology” Metabolic Syndrome is linked to several skin conditions, and stem cell therapy might help treat them.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
20 citations
,
February 2016 in “American Journal of Pathology” The genes OVOL1 and OVOL2 are important for hair growth and may be involved in a type of skin tumor.
October 2025 in “Journal of the Endocrine Society” A postmenopausal woman had rare symptoms due to a possible ovarian tumor, needing thorough evaluation.
July 2024 in “GLOBAL JOURNAL FOR RESEARCH ANALYSIS” A 24-year-old man developed both alopecia areata universalis and type 1 diabetes at the same time, which is rare.
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Hyperthyroidism can hide signs of high androgen levels in females.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
16 citations
,
April 2012 in “Journal of mammalogy” Young female Australian fur seals are losing hair due to low tyrosine and zinc levels and high pollution exposure.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
68 citations
,
September 2018 in “Trends in Cell Biology” Cancer can hijack the body's cell repair system to promote tumor growth, and targeting this process may improve cancer treatments.
5 citations
,
June 2008 in “British Journal of Dermatology” 1 citations
,
November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
1 citations
,
December 2022 in “Skin Appendage Disorders” Teledermatology can effectively diagnose Loose Anagen Syndrome remotely.
July 2024 in “Journal of Investigative Dermatology” INTASYL is a promising, adaptable RNAi technology for treating skin cancers.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
August 2019 in “Anais Brasileiros de Dermatologia”
December 2022 in “Cumhuriyet medical journal” Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
2 citations
,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
28 citations
,
June 2010 in “Pediatric dermatology” Short anagen syndrome causes short hair that may grow longer after puberty.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
394 citations
,
October 2013 in “Nature” 8 citations
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
January 2025 in “Biomedical Reports” Telitacicept helped stabilize complement levels in a patient with lupus and thyroid cancer.