179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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.
10 citations,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
68 citations,
August 2012 in “Journal of the American Academy of Dermatology” Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
28 citations,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
14 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
5 citations,
September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
1 citations,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
December 2016 in “John Wiley & Sons, Ltd eBooks” The document concludes that proper recognition and treatment of skin appendage disorders are important for management.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
66 citations,
February 2013 in “Pediatric Dermatology” Dermoscopy improves diagnosis and treatment monitoring for children's skin infections, inflammations, and hair disorders.
33 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
24 citations,
January 2011 in “International Journal of Trichology” Light microscopy is useful for diagnosing different hair disorders.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
2 citations,
December 2004 in “Medicine” Different hair and scalp disorders cause hair loss or excess hair growth, with various treatments available depending on the specific condition.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
86 citations,
October 2017 in “Translational pediatrics” Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
46 citations,
March 2013 in “Journal of Cosmetic and Laser Therapy” Non-ablative and ablative fractional lasers helped hair growth in some cases without major side effects, but didn't work for all hair disorders.
38 citations,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
10 citations,
March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
2 citations,
January 2014 in “Hair therapy & transplantation” New treatments for hair growth disorders are needed due to limited current options and complex hair follicle biology.
25 citations,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
72 citations,
January 2011 in “Current Pharmaceutical Design” S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
1 citations,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
33 citations,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
2 citations,
August 2022 in “Emergency medicine international” Keloid skin disorder involves abnormal fibroblast activation and immune response, linked to a group of genes including FGF11.
1 citations,
October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
10 citations,
January 2012 in “International Journal of Trichology” PRP helps hair growth in common hair loss disorder.