66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
64 citations,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
53 citations,
March 2014 in “Cold Spring Harbor Perspectives in Medicine” The document explains different types of hair loss, their causes, and treatments, and suggests future research areas.
45 citations,
April 2018 in “Nature Reviews Urology” Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
35 citations,
January 2014 in “Postepy Dermatologii I Alergologii” DHT's role in hair loss is important, but measuring its level for diagnosis is questionable.
31 citations,
July 2017 in “Clinical Science” MicroRNAs are important for skin health and could be targets for new skin disorder treatments.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
23 citations,
January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
22 citations,
March 2012 in “Molecular Medicine Reports” DHT affects hair follicle cells by changing microRNA levels, leading to less cell growth and more cell death.
19 citations,
May 2020 in “Cells” Substance from human umbilical cord blood cells promotes hair growth.
11 citations,
February 2018 in “Amino acids” Copper and iron cause keratin damage in hair by converting methionine to homocysteine.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
6 citations,
October 2022 in “American journal of clinical dermatology” The review shows how to properly diagnose and treat the loss of eyebrow and eyelash hair.
4 citations,
April 2020 in “Journal of Cosmetic Dermatology” High uric acid levels link to male pattern baldness, especially in young men.
4 citations,
January 2012 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Women with female pattern hair loss may have a higher risk of developing metabolic syndrome.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
1 citations,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
1 citations,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
1 citations,
June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
New insights into cell communication in psoriasis suggest innovative drug treatments.
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.
The document concludes that the girl's hairlessness is likely inherited from her parents.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
May 2017 in “American Society of Health-System Pharmacists eBooks” November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
May 2023 in “Journal of complementary medicine & alternative healthcare” Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
379 citations,
May 2016 in “Cochrane library” Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.