Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
May 2023 in “Brazilian Journal of Animal and Environmental Research” Photobiomodulation effectively treats hair loss in dogs with black hair follicular dysplasia.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
Tretinoin is used topically to treat acne, skin aging, and various skin conditions.
July 2019 in “Cancer Research” Bone marrow and hair follicle cells help form skin tumors, suggesting new treatment targets.
July 2019 in “Tumor Biology” Bone marrow-derived cells contribute to skin tumors, suggesting new treatment targets for non-melanoma skin cancers.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
May 2019 in “Australasian Journal of Dermatology” The document updated knowledge on skin disorders, focusing on unusual moles in older adults, the progression from moles to melanoma, and evolving hair loss treatments.
56 citations
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March 2015 in “Cell death and differentiation” Older skin has higher cancer risk due to inflammation and stem cell issues.
31 citations
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February 2007 in “Molecular Carcinogenesis” Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
May 1961 in “Tumori Journal” Vitamin A treatment reduced abnormal cell growth and improved skin conditions in rats with tumors.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
49 citations
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April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.