74 citations,
March 1963 in “Archives of Dermatology” Triparanol therapy can cause hair loss and skin dryness without inflammation or damage to hair follicles or skin structures.
53 citations,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
32 citations,
March 1988 in “International Journal of Dermatology” Retinoids can help treat skin disorders by improving the skin's outer layer.
31 citations,
January 1981 in “Pharmacology & Therapeutics” Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
16 citations,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
16 citations,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
10 citations,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
8 citations,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
6 citations,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
6 citations,
January 2013 in “IOSR Journal of Dental and Medical Sciences” Most people with hypothyroidism have skin problems like dry skin and hair loss.
2 citations,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
1 citations,
October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
March 2023 in “International journal of integrated medical research” Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
December 2021 in “Folia veterinaria” Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
July 2021 in “Rossiiskii Zhurnal Kozhnykh i Venericheskikh Boleznei” Low vitamin D levels are linked to more skin problems.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
December 2017 in “Annales de dermatologie et de vénéréologie” In 2017, pediatric dermatology advanced with new treatments and insights into various skin conditions in children.
Newer retinoid drugs are effective for skin conditions but have significant side effects.
Patients on long-term hemodialysis often experience severe itching and various skin and nail problems.
April 1963 in “Archives of Dermatology” Dermatological conditions are complex and treatments often have mixed results.
66 citations,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
2 citations,
January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
November 2021 in “Clinical, cosmetic and investigational dermatology” An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.