December 2021 in “Aegean journal of obstetrics and gynecology” A woman's male-like physical changes were caused by two rare ovarian conditions.
13 citations,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
11 citations,
January 2010 in “Journal of oral and maxillofacial surgery” [object Object] 3 citations,
August 2022 in “JAAD case reports” A woman developed swelling in her body after taking low-dose oral minoxidil for hair loss, but it resolved after stopping the medication.
October 2022 in “International journal of research in dermatology” A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
October 2022 in “Journal of advanced research in medicine” A woman with Sheehan syndrome improved with hormone treatment.
March 2022 in “Journal of South Asian Association of Pediatric Dentistry” Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
11 citations,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
6 citations,
January 2013 in “Urology” An 8-year-old boy with bed-wetting issues suffered a severe penile injury from tying a thread around his penis, requiring urgent medical treatment to avoid worse outcomes.
4 citations,
October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
Hepatitis B vaccination can trigger HSP, and vitamin D correction and tonsillectomy can effectively manage it.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
A 73-year-old woman's unusual hair loss and growth led to the discovery of a rare condition causing too much testosterone, which improved after her ovaries were removed.
127 citations,
July 2002 in “EMBO journal” Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
14 citations,
December 2010 in “Seminars in Oncology” Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
November 2018 in “The Journal of Allergy and Clinical Immunology: In Practice” Using old drugs for new uses can help treat rare immune deficiencies.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
116 citations,
May 1992 in “The American Journal of Medicine” Flutamide rarely causes liver toxicity in prostate cancer patients.
71 citations,
January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
26 citations,
January 2009 in “Annals of Dermatology” Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
24 citations,
November 2003 in “Australasian Journal of Dermatology” A rare skin cancer caused hair loss and spread, needing multiple treatments.
21 citations,
August 1991 in “Journal of the American Academy of Dermatology” A rare skin condition was found in a young white girl for the first time.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
[object Object] 18 citations,
January 2002 in “Pediatric Dermatology” A rare skin condition in children can look like other diseases.
17 citations,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
17 citations,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
14 citations,
June 2019 in “BMC infectious diseases” A rare fungal infection on a child's scalp was successfully treated with antifungal medication.