Adams-Oliver syndrome (AOS) is a congenital condition marked by aplasia cutis congenita and terminal limb defects, often accompanied by diverse systemic manifestations. We present a case of a newborn female with scalp aplasia cutis and brachydactyly, but no internal organ involvement. Clinical and imaging assessments identified a scalp bone defect without neurological or cardiac abnormalities.
View Article and Find Full Text PDFRosaï-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare and benign histoproliferative disorder of unknown etiology. It commonly presents with bilateral, painless cervical lymphadenopathy accompanied by systemic features such as fever and leukocytosis. RDD manifests in two primary forms: a systemic form involving multiple organ systems and a cutaneous form confined to the skin.
View Article and Find Full Text PDFHenoch-Schönlein purpura (HSP) also known as rheumatoid purpura is the most common vasculitis in children. This condition affects small blood vessels, predominantly targeting the skin, digestive system, joints, and kidneys. Short-term prognosis mainly depends on abdominal complications, while long-term prognosis is mainly determined by the severity of kidney involvement, which occurs in about 35% of cases.
View Article and Find Full Text PDFGriscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent development of hemophagocytic syndrome (HPS). Herein, we present a case involving a four-month-old infant admitted to our facility due to a prolonged fever complicated by HPS. The diagnosis of GS type 2 was established based on a constellation of clinical and laboratory findings: consanguinity, familial history of early infectious fatalities, ocular-cutaneous hypopigmentation, characteristic silvery hair sheen, onset of HPS, and notably, the pathognomonic appearance upon microscopic examination of a hair sample.
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