3 citations
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June 2015 in “Serbian Journal of Dermatology and Venereology” The conclusion is that cerebrovascular diseases can cause seizure-like activity in stroke patients, which can be improved with antiepileptic drugs.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
26 citations
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September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
January 2025 in “International Journal of Trichology” Trichotillomania can occur in unusual patterns and sites, highlighting the need for awareness and treatment options.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
12 citations
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January 2017 in “PubMed” Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
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.
3 citations
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April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
6 citations
,
August 1993 in “Archives of Dermatology” The study found that polymorphous light eruption varies among patients and can be distinguished from benign summer light eruption by the time it takes for symptoms to appear after sun exposure.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
30 citations
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January 2015 in “BioMed Research International” Continuous light exposure in rats leads to PCOS-like symptoms and suggests sleep habits might affect the disorder's development.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
May 2025 in “CPT Pharmacometrics & Systems Pharmacology” A 50 mg non-loading dose of ritlecitinib is safe for adults and adolescents.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
4 citations
,
February 2022 in “The Journal of Urology” Poor sleep, physical health, depression, and anxiety can worsen urinary problems in men.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
18 citations
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February 2006 in “Brain & development” A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.