18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
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.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
1 citations
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August 1981 in “The Journal of Dermatology” All major hair defects involve cuticle abnormalities.
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.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
12 citations
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March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
32 citations
,
September 2003 in “European journal of oral sciences” People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
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.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
April 1977 in “Pediatric Research” 2 citations
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September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.