May 2017 in “Endocrine Abstracts” Men with early hair loss and certain health factors may have a higher risk of developing reproductive issues, similar to polycystic ovary syndrome in women.
2 citations
,
November 2019 in “Journal für Klinische Endokrinologie und Stoffwechsel” PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
6 citations
,
April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
37 citations
,
March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
3 citations
,
June 2023 in “American Journal of Forensic Medicine & Pathology” A child died from eating hair, causing severe stomach blockages and infection.
6 citations
,
October 2006 in “International Journal of Dermatology” Hair splitting and nail detachment are linked conditions.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
July 2022 in “medRxiv (Cold Spring Harbor Laboratory)” Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
A brain injury can lead to compulsive hair-pulling and psychosis-like symptoms, needing comprehensive treatment.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
174 citations
,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
August 2017 in “Journal of pediatric surgery case reports” A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
1 citations
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December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
5 citations
,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.