31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
5 citations
,
August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
July 2023 in “Journal of medical and health studies” A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
67 citations
,
August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
49 citations
,
September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
5 citations
,
January 1998 in “Journal of Toxicologic Pathology” Maneb causes delayed hair follicle damage in rats.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
16 citations
,
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.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
26 citations
,
January 1992 in “Carcinogenesis” TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
67 citations
,
August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.