4 citations
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September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
238 citations
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October 1994 in “Current opinion in genetics & development” The document concludes that recent research has improved understanding of skin diseases and the balance between cell growth and differentiation in the epidermis.
26 citations
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August 2018 in “Journal of Investigative Dermatology” Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.
25 citations
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March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
14 citations
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January 2014 in “Annals of Dermatology” Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
4 citations
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January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
3 citations
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January 2017 in “Journal of Pakistan Association of Dermatology” The most common skin condition at the Baqai Institute in Karachi was scabies, and eczema was the most prevalent group of diseases.
2 citations
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December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
2 citations
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May 2023 in “International Journal of Molecular Sciences” The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
November 2025 in “Clinics and Practice” Red ink tattoos can cause severe skin reactions and complications, especially in those with autoimmune tendencies.
November 2025 in “Skin Health and Disease” Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
May 2024 in “Asian Journal of Medical Sciences” Skin changes like dryness and hair loss can signal hypothyroidism before tests confirm it.
May 2023 in “Indian journal of dermatology, venereology, and leprology” The document concludes that understanding tissue degeneration is crucial for diagnosing skin lesions.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
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.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.