November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
9 citations
,
September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
1 citations
,
August 2015 in “Experimental Dermatology” KIT's role in skin cells is not entirely independent, as other cells can influence its function.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TAGX-0003 protected hair follicles and reversed alopecia areata in a mouse model.
1 citations
,
November 2024 in “Blood” PI3Kδ inhibition may effectively treat cutaneous chronic graft-versus-host disease.
1 citations
,
June 2001 in “Annals of Internal Medicine” Troglitazone increases subcutaneous fat in lipodystrophy patients.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
August 2016 in “Journal of Investigative Dermatology” Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
55 citations
,
December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
5 citations
,
January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
2 citations
,
August 2020 in “Journal of Cosmetic Dermatology” Higher granulysin levels in the blood are linked to more severe hair loss in alopecia areata patients, and these levels decrease after effective treatment.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
21 citations
,
April 2019 in “Journal of cutaneous pathology” People with alopecia areata have fewer regulatory T-cells than those with other skin conditions.
3 citations
,
June 2025 in “Archives of Dermatological Research” Stopping TNFα inhibitors can help children regrow hair lost due to the medication.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
September 2019 in “Journal of Investigative Dermatology” IL-17 and certain immune cells are linked to more severe alopecia areata.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
69 citations
,
February 2008 in “The American journal of pathology” Controlled delivery of specific RNA and IL-4 restored hair growth in mice with autoimmune alopecia.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.