32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
24 citations
,
January 2004 in “The scientific world journal/TheScientificWorldjournal” HAIR-AN syndrome is common in young women and can be effectively managed with a comprehensive treatment plan.
33 citations
,
January 2010 in “Case reports in dermatology” Dermoscopy helps diagnose frontal fibrosing alopecia by distinguishing it from other hair loss conditions.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
May 2024 in “Australasian journal of dermatology” A man with a type of skin lymphoma had unusual yellowish skin growths despite normal blood lipid levels, and treatment reduced some symptoms but not the growths.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
48 citations
,
May 2015 in “PLOS ONE” DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
1 citations
,
January 2020 in “Indian journal of dermatology, venereology, and leprology” CD117 and platelet-derived growth factor receptor α may play a role in alopecia areata.
April 2023 in “Journal of Dermatological Treatment” Tofacitinib helped regrow hair in a teen with a unique pattern of alopecia areata.
17 citations
,
June 1990 in “PubMed” Hair varies in size and features depending on body region.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
2 citations
,
June 2024 in “Skin Appendage Disorders” Trichoscopy helps diagnose frontal fibrosing alopecia in Caucasians, but more research is needed.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
June 2023 in “Dermatopathology” A woman had a unique skin growth with hair follicle, oil glands, fat cells, spindle cells, and nerve fibers.
March 2026 in “Dermatology Online Journal” Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
February 2024 in “Research Square (Research Square)” The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
4 citations
,
April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
3 citations
,
February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” Sarcoidosis can mimic other skin disorders, making diagnosis challenging.
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.
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
9 citations
,
November 2015 in “Gynecological Endocrinology” Different types of PCOS in Chinese Han women show varying levels of male hormone and metabolic issues.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.