7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
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July 2018 in “Elsevier eBooks” FAPD and possibly CCCA may be AGA subtypes, and treatments combining antiandrogens, hair growth agents, hair transplants, and anti-inflammatories could be effective.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
June 2023 in “British Journal of Dermatology” Facial lichen planopilaris may be triggered by shaving and mustard oil, and early detection is crucial for better treatment outcomes.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
1 citations
,
September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
July 2025 in “International Journal of Dermatology”
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
July 2021 in “Authorea (Authorea)” Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
2 citations
,
January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
4 citations
,
September 2024 in “Oncology Research Featuring Preclinical and Clinical Cancer Therapeutics” 3D models and organoids improve liposarcoma research and therapy development.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
5 citations
,
January 2016 in “Skin appendage disorders” A rare skin condition called linear lichen planopilaris caused itchy red bumps and hair loss on a man's face.
54 citations
,
December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
October 2022 in “Portuguese journal of dermatology and venereology” Dupilumab led to complete hair regrowth and improved skin condition in a young man with severe eczema and hair loss.
110 citations
,
November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
11 citations
,
December 2010 in “Archives of Dermatology” A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
April 2018 in “Journal of Investigative Dermatology” Macrophages are more involved in Lichen planopilaris than in Frontal fibrosing alopecia.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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.
June 2023 in “JAAD Case Reports” A man had a rare skin cancer that looked like a bald spot.