63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
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.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
July 2015 in “NEJM Journal Watch” Diagnosing and treating PCOS in young people is difficult.
November 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Understanding the 2D:4D digit ratio in vitiligo patients may help in clinical assessments.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
15 citations
,
October 2018 in “Reproductive Biomedicine Online” Measuring the distance from the anus to the clitoris may moderately help diagnose polycystic ovary syndrome, especially in certain cases.
1 citations
,
November 2015 Dental pulp stem cells might not reliably become neurons.
94 citations
,
December 2018 in “Dentistry Journal” Oral-derived stem cells can effectively regenerate bone and tissues in dental procedures.
4 citations
,
September 1992 in “Journal of Small Animal Practice” A French bulldog had sparse hair due to a condition similar to that seen in Chinese crested dogs.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
8 citations
,
January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
29 citations
,
September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
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.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
December 2016 in “Asian Pacific journal of cancer biology” PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
21 citations
,
August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable alternative treatment for SCC.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
203 citations
,
December 1947 in “Annals of Internal Medicine” 1 citations
,
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.