January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
20 citations
,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
4 citations
,
August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
July 2025 in “Case Reports in Dermatology” Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
June 2026 in “Clinical Case Reports” Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
32 citations
,
September 2003 in “European journal of oral sciences” People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
Mutations in specific genes cause different types of ectodermal dysplasias.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
2 citations
,
May 2016 in “Journal of dermatology” Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
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.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
3 citations
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February 2016 in “Pediatric dermatology” Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
February 2026 in “Pediatric Dermatology” 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.
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.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology”