4 citations
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January 2023 in “Indian Dermatology Online Journal” A simple test can help diagnose a rare bruising disorder after ruling out other causes.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
Skin changes are common in children with chronic kidney disease.
June 2023 in “Nephrology Dialysis Transplantation” Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.
12 citations
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May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
108 citations
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October 2009 in “Javma-journal of The American Veterinary Medical Association” Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
January 2026 in “Nature Reviews Urology”
1 citations
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December 2022 in “Life” Topical corticosteroids are the main treatment for Erosive Pustular Dermatosis, but recurrence is common after stopping treatment.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
January 2020 in “Emergency Medicine News” Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
4 citations
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January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
April 2016 in “Journal of The American Academy of Dermatology” A child on life support experienced rapid hair loss due to severe illness affecting hair growth.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
29 citations
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September 2018 in “Journal of the American Heart Association” EP 2 receptor is essential for heart repair by helping macrophages work properly.
18 citations
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January 2020 in “Journal of the European Academy of Dermatology and Venereology” High-potency steroids or tacrolimus are effective treatments for Erosive Pustular Dermatosis of the Scalp.
5 citations
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January 2014 in “Indian Journal of Nephrology” A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
2 citations
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January 2014 in “Elsevier eBooks” The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
2 citations
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October 2022 in “British journal of haematology” A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
January 2022 in “Faculty of 1000 Research Ltd” Digital gangrene can be an early sign of late-onset systemic lupus erythematosus.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
June 2016 in “American Journal of Cardiology” Endovascular repair and open surgery for abdominal aortic aneurysms both result in a temporary decline in physical health, with no significant mental health difference, and a return to near normal health in 90 days.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
15 citations
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June 2004 in “International Journal of Dermatology” Most kidney transplant patients in the study had skin problems, often related to infections, medication side effects, or skin cancer risks.
1 citations
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October 2020 in “Nepal journal of dermatology, venereology & leprology” Patients on hemodialysis commonly have skin color changes, nail problems, dry skin, and itching.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.