33 citations
,
October 2018 in “BMJ Case Reports” Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
1 citations
,
January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
3 citations
,
February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
11 citations
,
May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
71 citations
,
May 2024 in “New England Journal of Medicine” Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.
21 citations
,
January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
2 citations
,
February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
March 2024 in “Poster presentations” A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
3 citations
,
January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
October 2024 in “Journal of the Endocrine Society” A woman experienced fluctuating thyroid conditions and eye disease, but her symptoms improved with treatment.
19 citations
,
March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
12 citations
,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.
October 2024 in “Journal of the Endocrine Society” Clinicians should be aware of alternating thyroid conditions and their treatment.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
June 2025 in “Journal of Ovarian Research” Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
October 2024 in “Journal of the Endocrine Society” Managing recurrent painless thyroiditis is challenging and should be personalized based on episode frequency, severity, symptoms, and patient preferences.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
October 2025 in “Indian Journal of Dermatology” Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
July 2023 in “Research Square (Research Square)” Two patients got Cushing's syndrome after treatment with Triamcinolone Acetonide for mouth fibrosis, but recovered after stopping the treatment.