32 citations
,
March 2014 in “PLOS ONE” Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
24 citations
,
August 2022 in “Immunity” Type 2 immunity helps control mite growth in hair follicles, preventing damage.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
January 2019 in “Current research in diabetes & obesity journal” A woman with type 2 diabetes developed alopecia areata, suggesting a link between the two autoimmune conditions.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
November 2025 in “Skin Health and Disease” Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
8 citations
,
December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mouse models help understand alopecia areata and find treatments.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
19 citations
,
April 2020 in “Psychological Medicine” The study found three different timing patterns of symptoms in women with premenstrual dysphoric disorder.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
32 citations
,
August 1984 in “Lancet”
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
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.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.