197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
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.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic 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.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
9 citations
,
October 1988 in “Clinics in Dermatology” Hair loss is caused by genetics and hormones, diagnosed through examination and biopsy, and treated with medications or surgery.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
1 citations
,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
21 citations
,
August 2011 in “Clinics in Dermatology” Looking at skin can help find and treat serious diseases early.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
March 2026 in “Journal of Community Genetics” Stigma against people with albinism in Africa harms their health, education, and safety, and needs to be addressed with awareness and better healthcare.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” A new one-step test can quickly identify skin cancer during surgery.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” Topical glucocorticoids thin the skin and change collagen structure.
April 2017 in “Journal of Investigative Dermatology” Cholecystokinin may help reduce skin inflammation in psoriasis.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
April 2017 in “Journal of Investigative Dermatology” Higher leptin levels link to hair loss.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.