21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
109 citations
,
April 1997 in “Archives of Dermatological Research” Mast cell and nerve fiber interactions in mouse skin change with the hair cycle.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
February 2020 in “Journal of chemical neuroanatomy” Researchers found a way to make rat hair follicle cells start turning into motor neuron-like cells, but couldn't fully turn them into working motor neurons.
21 citations
,
July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
December 2024 in “Brazilian Journal of Health Review” Early diagnosis of alopecia frontal fibrosante is crucial, but treatment remains controversial and varies.
October 2025 in “The Sri Lanka Journal of Dermatology” Inverted follicular keratosis can look like cancer but is actually a harmless tumor.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
December 2021 in “International journal of research - granthaalayah” A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.
July 2025 in “Journal of Investigative Dermatology” Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
1 citations
,
December 2017 in “Anais Brasileiros de Dermatologia” Frontal fibrosing alopecia can mimic traction alopecia but has distinct features like facial papules and eyebrow thinning.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
64 citations
,
February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
Neurotrophins may contribute to genetic hair thinning by inhibiting hair growth.
1 citations
,
October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
5 citations
,
August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
4 citations
,
November 2024 in “BMC Ophthalmology” Surgical removal of eyelid mass showed it was non-cancerous, with no recurrence after one year.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
60 citations
,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
3 citations
,
January 1988 in “PubMed” The review found that basal cell carcinomas on the scalp are not more aggressive than those in other locations.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The back of the scalp has more nerve fibers than the front, which may explain why some people feel more sensitivity there.
January 2025 in “Online Publication Service of Würzburg University (Würzburg University)” A protocol was developed to create 3D skin models from adult diseased cells to study Small Fiber Neuropathy.
97 citations
,
December 2011 in “New England Journal of Medicine” The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.