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.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
2 citations
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April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
July 2024 in “Journal of Investigative Dermatology” ATR04-484 ointment shows promise for treating skin issues from cancer therapies.
May 2021 in “Journal of the Endocrine Society” The patient's hypothyroidism improved with medication adjustments and careful management.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
29 citations
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May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
15 citations
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March 2012 in “International journal of nanomedicine” Local injections of nanosized rhEPO can speed up skin healing and improve quality after deep second-degree burns.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
December 2013 in “American journal of transplantation” The patient improved after antiviral treatment for a viral infection.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
2 citations
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May 2022 in “JAAD case reports” Using powdered umbilical remnant allograft can effectively treat chronic scalp wounds resistant to traditional treatments.
8 citations
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November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
August 2022 in “F1000Research” Digital gangrene can be a rare first sign of late-onset systemic lupus erythematosus.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
10 citations
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March 1990 in “The Journal of Dermatology” Long-term etretinate use may cause delayed wound healing and extra tissue growth after injury.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
90 citations
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August 2006 in “British Journal of Dermatology” PRIDE syndrome includes skin and hair issues from cancer treatment with EGFR inhibitors.
17 citations
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April 2023 in “Cell Biology International” RDW is a useful, cost-effective tool for diagnosing and monitoring various diseases.
39 citations
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November 2015 in “Pediatric Nephrology” Rituximab leads to longer remission and fewer side effects than cyclophosphamide.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
Using regulatory T cells and Rapamycin together improves chronic graft-versus-host disease treatment outcomes in mice.
1 citations
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May 2026 in “Nature Communications” CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.