September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A compromised gut may trigger the autoimmune hair loss condition Alopecia Areata.
71 citations
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June 2008 in “Annals of Internal Medicine” Excessive selenium from supplements can be harmful.
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.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
June 2018 in “Journal of Clinical Periodontology” A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
4 citations
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November 2015 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Eosinophilic esophagitis may trigger alopecia areata in some patients.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
PNH can occur in patients with SLE, so doctors should be aware of this.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
23 citations
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February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
November 2023 in “Journal of Skin and Sexually Transmitted Diseases” Gefitinib can cause scalp skin issues and permanent hair loss.
1 citations
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August 2025 GLP-1 receptor agonists can help skin conditions but may cause hair loss and other skin issues.
1 citations
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January 2013 Glucosylceramides are essential for healthy skin and proper wound healing.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
7 citations
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January 2023 in “Skin Appendage Disorders” Sensitive scalp causes discomfort and may relate to hair loss, with treatment focusing on scalp care and medication.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
SLE patients experience hair loss similar to telogen effluvium, with hair damage and immune activity at hair follicles.
32 citations
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August 1982 in “Journal of the American Academy of Dermatology” GLPLS and LPP are variants of lichen planus.
2 citations
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April 2023 in “PubMed” Improving maternal diets can prevent severe health issues, including death, from goiter in goat kids.