1 citations
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January 2012 in “InTech eBooks” Treating acute myeloid leukemia is challenging, especially in older adults, despite some advancements.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
August 2024 in “British Journal of Dermatology” Rezpegaldesleukin shows promise for treating severe alopecia areata.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
23 citations
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August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
2 citations
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June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
February 2010 in “Journal of The American Academy of Dermatology” A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
4 citations
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May 2018 in “Journal of Neuro-Ophthalmology” New treatments for relapsing multiple sclerosis are more effective and convenient but have higher risks of serious side effects.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
February 2025 in “Pediatric Dermatology”
37 citations
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June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
October 2021 in “Acta Scientific Medical Sciences” A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.
59 citations
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January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
15 citations
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January 2019 in “Journal of the Formosan Medical Association” Adalimumab helped control a child's severe eye disease when other treatments failed.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
April 2024 in “Journal of asthma and allergy” Abrocitinib effectively treated severe atopic dermatitis and mild alopecia areata in a 12-year-old boy after dupilumab failed.
76 citations
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May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
February 2010 in “Journal of The American Academy of Dermatology” Alopecia areata has different forms and can significantly affect quality of life, especially in more severe cases.
October 2008 in “DOAJ (DOAJ: Directory of Open Access Journals)” A 20-month-old girl had a rare adrenal tumor removed successfully, with no recurrence for 10 years.
7 citations
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May 2010 in “Journal of Dermatological Treatment” A man with multiple autoimmune diseases developed liver injury from azathioprine, but his liver improved after stopping the drug.
14 citations
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June 1982 in “Archives of Dermatology” A man had bad reactions to a hair loss treatment called DNCB.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
32 citations
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July 2003 in “Annals of the Rheumatic Diseases” A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.