27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
12 citations
,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
January 2021 in “Nasza Dermatologia Online” Plica polonica is a rare condition where hair becomes irreversibly tangled, and the treatment is to cut the matted hair.
January 2021 in “Skin Appendage Disorders”
11 citations
,
May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
8 citations
,
January 2013 in “Australasian journal of dermatology” Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
February 2019 in “Obstetrics and gynaecology cases - reviews” Women with excessive hair growth tend to have shorter index and ring fingers compared to others.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
13 citations
,
December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
3 citations
,
May 2024 in “Cureus” Early detection and removal of hair can prevent damage in hair-thread tourniquet syndrome.
40 citations
,
January 2010 in “International Journal of Trichology” Loose Anagen Syndrome is a hair condition where hairs can be easily pulled out, mainly affecting young girls, and may improve on its own or with treatment.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
1 citations
,
December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
79 citations
,
June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
24 citations
,
January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.