September 2023 in “Journal of the American Academy of Dermatology” Including special area involvement helps identify more psoriasis patients who may need systemic treatment.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
2 citations
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January 2020 in “Skin Appendage Disorders” Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
94 citations
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January 2007 in “Cutaneous and Ocular Toxicology” Iranian veterans exposed to sulfur mustard suffer from long-term skin itching and eye damage, with some risk of skin cancer and ongoing management challenges.
11 citations
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July 2022 in “International Journal of Molecular Sciences” Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
August 2025 in “Romanian Journal of Rheumatology” Early diagnosis and treatment of SLE are crucial to prevent severe complications.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
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.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
2 citations
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October 2022 in “Rheumato” A young woman with severe symptoms was diagnosed with SLE and improved significantly after treatment.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
May 2025 in “The Journal of Rheumatology” The project highlights the importance of early diagnosis and patient advocacy in managing Systemic Lupus Erythematosus.
1 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
2 citations
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January 2016 in “Experimental Dermatology” HS needs personalized treatment plans and more research.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
49 citations
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November 1984 in “JAMA” Trimethoprim-sulfamethoxazole can cause aseptic meningitis, especially in people with certain health conditions.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
1 citations
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March 2023 in “Medicine” Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
June 2013 in “Annals of the Rheumatic Diseases” Specialist nurses play a crucial role in managing lupus and empowering patients.