Controlling Tslp can improve health in AEC syndrome patients.
55 citations
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May 2007 in “Australasian journal of dermatology” Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
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.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
June 2024 in “European neuropsychopharmacology”
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
1 citations
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May 2008 in “Journal of Experimental Biology” Different species have unique sensory adaptations to perceive their environments.
273 citations
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May 2017 in “The Lancet” Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
43 citations
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January 2014 in “Indian Journal of Dermatology” EGFR inhibitors can cause skin issues like acne and dryness, but these can be managed without stopping treatment.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
June 2026 in “Scholarly review .” Endocrine-disrupting chemicals cause irreversible harm to children's development, increasing disease risk.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
16 citations
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July 2012 in “The New England Journal of Medicine” The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
7 citations
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August 1971 in “JAMA” Tinea faciale can be mistaken for lupus due to similar symptoms.
3 citations
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June 2021 in “Case Reports in Infectious Diseases” Fungal infections should be considered in scalp swelling to avoid misdiagnosis.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
1 citations
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July 2019 in “Case reports in dermatology” A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
19 citations
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March 2013 in “Headache The Journal of Head and Face Pain” A woman's headache and hair loss were relieved by Botox injections.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.