37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
20 citations
,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
17 citations
,
October 2001 in “Veterinary dermatology” The skin issues in the two dogs might be caused by infection or self-injury, not genetics.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
14 citations
,
February 2014 in “Experimental Cell Research” The conclusion is that teeth, hair, and claws have similar stem cell niches, which are important for growth and repair, and more research is needed on their regulation and potential markers.
9 citations
,
January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Fungal infection was the main cause of hair loss in Egyptian children studied.
7 citations
,
November 2007 in “Differentiation” The NF-κB effector p65/RelA activates hair keratin genes, aiding hair formation.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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.
Polarized microscopy helps identify hair irregularities in genetic disorders.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
May 2017 in “InTech eBooks” Early treatment of children's hair loss, which can be caused by various factors, is important due to its emotional impact.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
June 1997 in “Australasian Journal of Dermatology” Researchers found new hair and nail genes, how hair reacts to UV, differences in white and pigmented hair growth, nerve changes in alopecia, treatments for baldness and alopecia, a toenail condition linked to a genetic disorder, and that nail fungus is more common in people with psoriasis.
Mutations in specific genes cause different types of ectodermal dysplasias.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
85 citations
,
August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
49 citations
,
April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
46 citations
,
March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
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.
14 citations
,
September 2001 in “Archives of Dermatological Research” Blocking hair follicle development stops key gene signals needed for hair growth in mice.