8 citations,
March 2020 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
4 citations,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
2 citations,
April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
November 2018 in “The Journal of Allergy and Clinical Immunology: In Practice” Using old drugs for new uses can help treat rare immune deficiencies.
January 2018 in “Journal of Investigative Dermatology” Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.
January 2016 in “Journal of Investigative Dermatology” Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
April 2013 in “Journal of pediatric nursing” The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
October 2010 in “International Journal of Dermatology” An 86-year-old man with prostate cancer was diagnosed with a rare, low-grade breast cancer and underwent surgery but declined additional hormone therapy.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
July 2004 in “British Journal of Dermatology” The document concludes that accurate diagnosis and treatment are crucial in dermatology, and it presents various findings on skin conditions and treatments.
29 citations,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
5 citations,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
January 2023 in “Springer eBooks” Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
June 2017 in “Journal of clinical and investigative dermatology” Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
7 citations,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
6 citations,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
2 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
112 citations,
March 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.