21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
7 citations
,
November 2018 in “Journal of the American Academy of Dermatology” White hairs often regrow in alopecia areata patches.
5 citations
,
August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
186 citations
,
October 1957 in “A M A Archives of Dermatology” Alopecia mucinosa is a challenging condition with unclear diagnosis and treatment.
July 2024 in “Journal of Investigative Dermatology”
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
December 2023 in “Journal of General Procedural Dermatology and Venereology Indonesia” A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
11 citations
,
June 1974 in “Journal of Cutaneous Pathology” Follicular mucinosis causes significant damage to hair follicle cells.
Pseudopelade is likely an independent disease due to its distinct features.
January 2025 in “NATIONAL BOARD OF EXAMINATIONS JOURNAL OF MEDICAL SCIENCES” Dermoscopy is useful for accurately diagnosing syphilitic alopecia.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
66 citations
,
December 2014 in “Nature Communications” Fibroblasts can be turned into melanocytes for potential skin treatments.
127 citations
,
November 2010 in “Pigment cell & melanoma research” We need more research on human hair follicle pigmentation, not just mouse models.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific group of early-stage melanocytes is reduced in vitiligo-affected skin, which may explain treatment resistance.
6 citations
,
January 2018 in “International Journal of Dermatology” Repigmentation patterns in vitiligo depend on melanocyte source, lesion status, and therapy choice.
23 citations
,
November 2011 in “Journal of the European Academy of Dermatology and Venereology” Hair loss is a rare but recognized symptom of pemphigus vulgaris, with patients usually regrowing hair after treatment.
September 2024 in “Indian Journal of Dermatology Venereology and Leprology”
94 citations
,
October 2017 in “International Journal of Dermatology” Lichen planus pigmentosus causes dark skin patches and is treated by avoiding triggers and using anti-inflammatory medications.
September 2020 in “Advances in anatomic pathology” A woman's large nose growth was initially misdiagnosed, but later confirmed to be giant rhinophyma after full removal and examination.
1 citations
,
January 2013 in “Journal of the Scientific Society” A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
Retinoids or their analogs could treat skin pigmentation disorders like melasma and vitiligo.
August 2025 in “Annals of African Medicine” March 2026 in “Skin Appendage Disorders” Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
2 citations
,
November 2006 in “Pump Industry Analyst” Pilomatricomas don't follow the usual hair follicle cell differentiation process.