89 citations
,
February 2002 in “Australasian journal of dermatology” A premenopausal woman had hair loss and skin issues, treated with topical steroids.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
April 2024 in “Anais Brasileiros de Dermatologia”
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
2 citations
,
January 2017 in “International Journal of Trichology” Trichoscopy can reveal specific hair and scalp changes in linear morphea.
166 citations
,
April 2012 in “Journal of The American Academy of Dermatology” Mostly postmenopausal Caucasian women get Frontal Fibrosing Alopecia, which often includes eyebrow loss and has limited treatment success.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Lichen planopilaris in men often affects the scalp, eyebrows, arms, legs, and beard, with many having family members with hair loss.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
115 citations
,
March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
2 citations
,
April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
15 citations
,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
12 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
329 citations
,
January 1997 in “Journal of the American Academy of Dermatology” Frontal fibrosing alopecia is a hair loss condition in postmenopausal women, similar to lichen planopilaris, with ineffective treatments.
3 citations
,
September 2019 in “Skin appendage disorders” Women with Frontal Fibrosing Alopecia have more wrinkles near their ears than similar aged women without the condition.
33 citations
,
January 2015 in “Journal of Cosmetic Dermatology” Familial frontal fibrosing alopecia affects premenopausal women too, and early diagnosis is important, but no proven medication exists yet.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
July 2019 in “Medical Science and Discovery” Early diagnosis and treatment can prevent or delay frontal fibrosing alopecia progression in postmenopausal women.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
9 citations
,
July 2020 in “Journal of Dermatology” Asian patients with Frontal Fibrosing Alopecia often lose eyebrow hair and respond well to combined antiandrogen or antimalarial and topical treatments.
8 citations
,
December 2017 in “Journal of The American Academy of Dermatology” The authors updated the criteria for diagnosing frontal fibrosing alopecia, making it easier to diagnose without a biopsy.