4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
3 citations
,
January 2014 in “Middle East African Journal of Ophthalmology” A woman lost her hair after taking acyclovir, but it grew back when she stopped the medication.
March 2024 in “Poster presentations” A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
9 citations
,
January 2007 in “Endocrine Practice” A woman's male-like symptoms and high testosterone were due to ovarian hilus-cell hyperplasia, which improved after surgery.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
January 2025 in “Indian Dermatology Online Journal” Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
22 citations
,
March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
May 2011 in “Journal of Clinical Neuroscience” The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
11 citations
,
January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
10 citations
,
January 2018 in “International journal of trichology” Eruptive vellus hair cysts are rare and often misdiagnosed, requiring biopsy for accurate diagnosis.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
4 citations
,
December 2012 in “Arquivos Brasileiros De Endocrinologia E Metabologia” A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
1 citations
,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
13 citations
,
December 2021 in “Journal of Cellular and Molecular Medicine” Exosome-enriched vesicles from placental cells improved skin condition in a patient with chronic graft-versus-host disease.
4 citations
,
September 2010 in “Journal of Medical Case Reports” A man developed autoimmune issues after a transplant, improved with treatment, but died from leukemia relapse.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
July 2025 in “Journal of Investigative Dermatology” December 2024 in “AACE Clinical Case Reports” Ovarian hyperthecosis can cause polycythemia, and surgery can normalize symptoms.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
41 citations
,
November 2024 in “Molecular Biomedicine” Engineered extracellular vesicles show promise for targeted therapy but need more research for clinical use.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
5 citations
,
May 2022 in “Lara D. Veeken” A rare genetic condition can mimic symptoms of other diseases, making diagnosis challenging.
76 citations
,
December 1987 in “International Journal of Dermatology” AIDS patients often have specific skin conditions that help in early diagnosis and management.
1 citations
,
October 2023 in “Journal of the Endocrine Society” HIV medication ritonavir can increase the effects of nasal sprays like fluticasone, causing Cushing's syndrome.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
PNH can occur in patients with SLE, so doctors should be aware of this.
January 2016 in “Indian journal of drugs in dermatology” Acitretin effectively treats severe hypertrophic lichen planus.