November 2021 in “European Heart Journal Supplements” SLE can increase the risk of blood clots, leading to heart failure, but treatment can improve heart function.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
October 2025 in “Indian Journal of Dermatology” Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
1 citations
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January 2021 in “Dermatology Review” A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
20 citations
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January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
9 citations
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September 2006 in “Veterinary pathology” A dog with unusual skin lesions near its tail was successfully treated for a rare form of lupus.
1 citations
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March 2025 in “Archivos Argentinos de Pediatria” Exposure to certain chemicals in food and containers may increase the risk of early breast development in young girls.
March 2021 in “Revista da Associação Médica Brasileira”
September 2022 in “Anais Brasileiros de Dermatologia” Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
April 2019 in “Journal of Investigative Dermatology” Skin grafts from related donors significantly healed chronic wounds in patients with a severe skin condition over a year.
July 2020 in “Research Square (Research Square)” Higher BMI, IGF-1, and DHEAS levels are linked to advanced bone age in young Chinese girls with early breast development.
PCOS may be linked to spina bifida in young females.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
April 2025 in “Current Rheumatology Reviews” Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
14 citations
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November 1979 in “Pediatric Research”
3 citations
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May 2018 in “European Journal of Dermatology” Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
1 citations
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December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
3 citations
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September 2018 in “JAAD case reports” A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.