5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
4 citations
,
May 2021 in “The American Journal of Surgical Pathology” Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
January 2002 in “Linchuang pifuke zazhi” A young woman had a rare scalp tumor usually found in older women.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
6 citations
,
July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
November 2024 in “Medicina Estética Revista Científica de la Sociedad Española de Medicina Estética (SEME)” La detección temprana y precisa de la pseudopelada de Brocq es crucial para detener su progresión.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
13 citations
,
January 2011 in “International Journal of Trichology” CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
January 2025 in “Dermatology Review” Trichilemmal carcinoma is rare, usually benign after removal, but needs close follow-up due to recurrence risks.
January 2003 in “Linchuang pifuke zazhi” A benign skin tumor was removed from a man's leg, and it didn't come back after 9 months.
January 2025 in “Dermatology Review” Giant keratoacanthoma can look like squamous cell carcinoma, requiring careful diagnosis and surgical removal.
May 1961 in “Tumori Journal” Vitamin A treatment reduced abnormal cell growth and improved skin conditions in rats with tumors.
33 citations
,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
3 citations
,
January 2016 NuMA-microtubule interactions are crucial for proper skin structure and hair growth.
April 2024 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
1 citations
,
August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
17 citations
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January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.