14 citations
,
September 2015 in “Ophthalmic plastic and reconstructive surgery” Surgical removal of abnormal fat pads fixed the woman's eyelid issue caused by likely silicone injections.
37 citations
,
September 2002 in “Acta pædiatrica” A cystic fibrosis patient developed Cushing's syndrome from a drug interaction between itraconazole and budesonide, which improved after stopping the medications.
15 citations
,
April 1997 in “Muscle & Nerve” 5 citations
,
April 1997 in “Muscle & Nerve”
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
September 2018 in “Dermatologic Surgery”
2 citations
,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
June 2025 in “Judi Clinical Journal” Multiple pilonidal sinuses can be successfully treated with a mix of surgery and conservative care.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
May 2018 in “Dermatologic Surgery” 1 citations
,
March 2023 in “Anais Brasileiros de Dermatologia”
Early diagnosis of imperforate hymen is crucial to prevent complications.
October 2022 in “Miscellaneous” A rare, non-cancerous ovarian tumor was successfully treated with surgery, improving the patient's symptoms.
July 2022 in “European Journal of Dermatology” Brodalumab is more effective than ustekinumab in treating psoriasis.
10 citations
,
January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
9 citations
,
December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
September 2016 in “Case Reports in Internal Medicine” Chronic arsenic toxicity can cause diabetes and may not improve even with treatment.
60 citations
,
September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
5 citations
,
February 2015 in “New England journal of medicine/The New England journal of medicine” The conclusion of the case is not provided in the summary.
April 2020 in “Journal of the Endocrine Society” A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.
The document's conclusion cannot be provided because the document is not accessible or understandable.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
99 citations
,
February 2023 in “Cellular and Molecular Immunology” April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
4 citations
,
December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.