7 citations
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October 2023 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This article emphasizes the importance of educating dermatologists to reduce diagnostic delays in FD and highlights the need to screen for comorbid hidradenitis suppurativa and obtain bacterial cultures for effective treatment planning.
2 citations
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January 2008 in “International Journal of Neuroscience” This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.
December 2025 in “American Journal of Case Reports” This case report highlights the importance of thorough examination in detecting ectopic thyroid glands in patients with borderline congenital hypothyroidism identified during newborn screening, as early intervention can prevent future complications and improve outcomes.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
In this case study, a 12-year-old girl with an imperforate hymen experienced significant complications, including hematometrocolpos and a large abdominal mass, highlighting the necessity of early gynecologic care and education about female anatomy to improve outcomes.