Are You Confident of the Diagnosis? What you should be alert for in the history A rapidly involuting congenital hemangioma (RICH) is fully or near-fully developed at birth, with a preference for the head, neck and lower extremities. There is an equal gender distribution. The hemangioma involutes spontaneously within the first 14-18 months of life.…
Are You Confident of the Diagnosis? What to be alert for in the history Angioma serpiginosum (AS) begins in first two decades of life. It is usually asymptomatic and occurs sporadically; some familial cases have been reported. It most commonly affects the extremities with extension possible over time. The incidence favors females over males. Characteristic…
Are You Confident of the Diagnosis? What you should be alert for in the history Von Hippel-Lindau syndrome (VHLS) is a genetic disorder with autosomal dominant inheritance. Symptoms usually begin in childhood or early adolescence and there is usually a family history. Mutations in the Von Hippel-Lindau (VHL) gene (3p25) impart increased susceptibility to a…
Are You Confident of the Diagnosis? What you should be alert for in the history Venous lakes occur most often in the elderly and are usually asymptomatic. Characteristic findings on physical examination Characteristically, venous lakes are small, dark-blue, soft lesions with slight elevations, which are mostly localized to the lips, ears and face (Figure 1).…
Are You Confident of the Diagnosis? What you should be alert for in the history Widespread symmetrical cutaneous telangiectasias can be seen in plaque-like, macular, retiform, annular, sheet-like, or net-like patterns. They are usually asymptomatic; however, some individual lesions can cause tingling, burning, or numbness. Characteristic findings on physical examination Characteristic findings include widespread cutaneous…
Are You Confident of the Diagnosis? What you should be alert for in the history Targetoid hemosiderotic hemangioma (THH) is rare ( sixty-two cases reported) and usually asymptomatic. It can occur at any age (median age 32 years). There is a characteristic halo that can fade and disappear over time. Lesions can undergo cycles of…
Are You Confident of the Diagnosis? What you should be alert for in the history Symptoms of Sturge-Weber syndrome (SWS) will depend on the location and extent of the lesion and can include visual disturbances, seizures, contralateral hemiparesis or hemiplegia, developmental delays, psychiatric disturbances (emotional/behavioral issues, attention deficits) and migraine headaches. Characteristic findings on physical…
Are You Confident of the Diagnosis? What you should be alert for in the history The history is marked by congenital hemangioma that is fully or near-fully developed at birth and grows as the child grows, slight male predominance, and failure to involute spontaneously by the first year of life. Characteristic findings on physical examination…
