Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
131 citations
,
March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
109 citations
,
October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
3 citations
,
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” January 2026 in “Clinical and Experimental Dermatology” Ruxolitinib helped a patient with alopecia areata regrow hair.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
21 citations
,
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.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
22 citations
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June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
8 citations
,
January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology”
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
,
May 1990 in “Journal of the American Academy of Dermatology”
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
92 citations
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July 2001 in “The FASEB Journal” Overexpressing the glucocorticoid receptor in mice leads to abnormal skin development and reduced inflammation.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
36 citations
,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.