6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
6 citations,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
78 citations,
April 1994 in “Archives of dermatology” The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
7 citations,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
August 1996 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that PCOS in adolescents is complex and requires comprehensive care to manage its symptoms and associated health risks.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
86 citations,
January 2019 in “Frontiers in Immunology” The document concludes that diagnosing and treating Human African Trypanosomiasis is challenging, but new treatments like fexinidazole are promising.
8 citations,
March 2023 in “Journal of Clinical Epidemiology” The updated GRADE guidance advises considering context when interpreting variability in research results and introduces tools for assessing subgroup effects.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
31 citations,
January 2017 in “Phytotherapy Research” Ziziphus jujuba Mills may have health benefits, but more research is needed to confirm its safety and effectiveness.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
38 citations,
January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
Recognizing unusual brain and skin symptoms is crucial for diagnosing lupus early.
1 citations,
November 2023 in “Brain and behavior” Spironolactone improved cognitive performance and early sleep quality but not manic symptoms, appetite, or body weight in bipolar disorder when added to sodium valproate.
76 citations,
July 2011 in “Clinical, Cosmetic and Investigational Dermatology” The document concludes that proper diagnosis and FDA-approved treatments for different types of hair loss exist, but treatments for severe cases often fail and future improvements may focus on hair follicle stem cells.
30 citations,
March 2015 in “Clinical Endocrinology” Young women with high male hormone levels or PCOS often feel more psychological distress and have a lower quality of life.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
47 citations,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
15 citations,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
68 citations,
May 2016 in “Experimental dermatology” FFA's causes may include environmental triggers and genetic factors.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
189 citations,
March 2018 in “Human Reproduction Update” Women with PCOS are more likely to have impaired glucose tolerance and type 2 diabetes, especially if they are Asian or obese.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
49 citations,
November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
11 citations,
August 2012 in “Canadian journal of ophthalmology” Eyelash alopecia areata often goes undiagnosed and can lead to complete eyelash regrowth, especially in younger patients.
6 citations,
July 2009 in “Veterinary dermatology” Vesiculobullous lesions should be considered part of canine cutaneous epitheliotropic T-cell lymphoma.
273 citations,
May 2017 in “The Lancet” Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.