February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
A 21-year-old with lichen planopilaris was successfully treated, stopping disease progression and preventing crusts.
16 citations
,
November 1998 in “Fertility and sterility” Doctors used to view PCOS too narrowly, but now understand that insulin resistance is a key factor in the condition.
March 2023 in “Scientific Reports” Using focused ultrasound on the brain can help epilepsy medicine work better in rats.
86 citations
,
January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
258 citations
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July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
August 2025 in “Current Issues in Molecular Biology” Periplaneta americana extract helps hair regrowth in mice with alopecia.
4 citations
,
April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
49 citations
,
August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
January 2023 in “Advances in reproductive sciences” Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
478 citations
,
September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
A new genetic mutation was found causing hair and eye issues in a boy.
171 citations
,
July 2007 in “Journal of Investigative Dermatology” A substance called DKK-1 increases in balding areas and causes hair cells to die when exposed to DHT.
5 citations
,
August 2001 in “International Journal of Dermatology” A 20-year-old had hair loss and skin issues from lichen planopilaris starting at age 10.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
7 citations
,
January 2009 in “Immunological investigations” A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
10 citations
,
January 2019 in “The Nurse Practitioner” PCOS is a common hormonal disorder in women, treated with lifestyle changes, medication, and patient education.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
2 citations
,
February 2018 in “InTech eBooks” PCOS is complex, affects many, and requires informed management and lifestyle changes.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
16 citations
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May 2000 in “Endocrinology” A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
PCOS is a complex condition that can lead to serious health issues, but early diagnosis and treatment can reduce these risks.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
4 citations
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February 2011 in “Annals of internal medicine” The document concludes that Polycystic Ovary Syndrome is a commonly underdiagnosed hormonal disorder in women, diagnosed by specific criteria.