9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
28 citations
,
July 2017 in “Journal of Endocrinological Investigation” Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
9 citations
,
February 2020 in “International Journal of Endocrinology” Some men with early hair loss may have a male version of PCOS, affecting hormones and increasing health risks.
January 2026 in “Endocrinology”
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
1 citations
,
October 2010 in “Cambridge University Press eBooks” The document suggests new ways to assess and diagnose hyperandrogenism to improve accuracy.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations
,
January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
1 citations
,
December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
1 citations
,
September 2024 in “Journal of Clinical & Translational Endocrinology” PCOS women have more severe metabolic issues and higher androgen levels than hyperandrogenic women without PCOS.
14 citations
,
January 1990 in “Fertility and Sterility” Some patients with high prolactin levels don't show symptoms because they have a form of the hormone that's less active.
7 citations
,
June 2019 in “Australasian Journal of Dermatology” AGA in children needs careful diagnosis due to low androgen levels and possible other causes.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
2 citations
,
January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Granuloma faciale can occur on the scalp, especially in people with advanced hair loss, and may improve with treatment.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Postmenopausal women with unusual hair growth should be checked for ovarian tumors.
17 citations
,
January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
November 2025 in “Frontiers in Endocrinology” A rare tumor caused unusual hormone production leading to Cushing syndrome.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.