January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
77 citations,
September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
4 citations,
September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
238 citations,
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.
37 citations,
January 2005 in “Clinics in dermatology” Recent progress has been made in understanding inherited hair and nail disorders.
25 citations,
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.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
13 citations,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
4 citations,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
3 citations,
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,
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.
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.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
210 citations,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
186 citations,
December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
136 citations,
April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
92 citations,
April 1999 in “The journal of investigative dermatology/Journal of investigative dermatology” Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
69 citations,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
26 citations,
August 2018 in “Journal of Investigative Dermatology” Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.
26 citations,
December 2013 in “Seminars in cell & developmental biology” Skin varies in thickness, color, and features due to complex genetic and cellular processes.