3 citations
,
May 2012 in “BMC Endocrine Disorders” Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
1 citations
,
July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
1 citations
,
March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
6 citations
,
January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
January 2015 in “The Encyclopedia of Clinical Psychology” Habit reversal training effectively treats hair-pulling disorder in both adults and children.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
January 2017 in “Enlighten: Publications (The University of Glasgow)” Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.
21 citations
,
January 2005 in “Pediatric Dermatology” An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
8 citations
,
September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
A neck lesion misdiagnosed as benign was later treated successfully with Mohs Micrographic Surgery.
45 citations
,
February 2001 in “Joint bone spine” Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
9 citations
,
January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
November 2025 in “Вопросы современной педиатрии” Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.