32 citations
,
April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
179 citations
,
July 2005 in “Human Reproduction Update” PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
The document concludes that accurate diagnosis and management of PCOS are crucial due to its associated health risks.
2 citations
,
June 2025 in “Biomolecules” Microbiome analysis, BEVs, and AI can improve PCOS diagnosis and treatment.
4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
12 citations
,
May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
380 citations
,
February 2023 in “Journal of Clinical Medicine” PCOS is influenced by various factors and may be managed by restoring gut health and using new therapies.
10 citations
,
January 2014 in “Endocrinology & metabolic syndrome” PCOS is a long-term condition that needs more research for better understanding and treatment.
4 citations
,
March 2017 in “Revista del Hospital Italiano de Buenos Aires” PCOS is a common disorder in women causing hormonal imbalance and fertility issues, often managed with lifestyle changes and medication.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
PCOS is a complex condition that can lead to serious health issues, but early diagnosis and treatment can reduce these risks.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
60 citations
,
June 1997 in “Baillière's clinical obstetrics and gynaecology” PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
15 citations
,
December 2016 in “Revista Da Associacao Medica Brasileira” Polycystic ovary syndrome is a common hormonal disorder in women, linked to increased risk of metabolic and heart diseases, and needs more research for better understanding and treatment.
7 citations
,
September 2022 in “International Ophthalmology” June 2025 in “Journal of Neonatal Surgery” Managing PCOD involves lifestyle changes like exercise, healthy eating, and avoiding smoking and alcohol.
50 citations
,
February 2007 in “Clinical obstetrics and gynecology” Early detection and treatment of PCOS in teenagers is important to manage symptoms and prevent severe issues.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
January 2024 in “International Journal of Trichology” PON1 levels might indicate hair loss severity, but other health factors can affect this.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
42 citations
,
September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
2 citations
,
May 2010 in “Journal of Obstetrics and Gynaecology Canada” PCOS is a complex condition linked to hormonal imbalance and insulin resistance, with weight loss being important for management.
April 2021 in “Interciencia médica” PCOS is a common condition in women that causes various symptoms and health issues, treatable with lifestyle changes and medication.
9 citations
,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.