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.
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.
2 citations,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
13 citations,
December 2010 in “Nature Reviews Endocrinology” A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
1 citations,
February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
May 2023 in “Journal of complementary medicine & alternative healthcare” Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
December 2018 in “IntechOpen eBooks” Neurohormones help control skin health and could treat skin disorders.
33 citations,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.