Ludovica Volpi, Author at Renal and Urology News

Ludovica Volpi

All articles by Ludovica Volpi

Bloom Syndrome

Are You Confident of the Diagnosis? Bloom syndrome (BS) is characterized by severe growth deficiency of prenatal onset that persists into infancy, childhood and adulthood. What you should be alert for in the history The skin at birth and during early infancy is normal, but following sun exposure an erythematous rash in the butterfly area…

Rothmund–Thomson Syndrome (poikiloderma congenitale)

Rothmund-Thomson Syndrome (poikiloderma congenitale) Are You Confident of the Diagnosis? What you should be alert for in the history The clinical presentation of Rothmund-Thomson Syndrome (RTS) patients is extremely heterogeneous, making the molecular diagnosis the only tool to subgroup them correctly. Characteristic findings on physical examination The clinical diagnostic hallmark is the cutaneous rash appearing…

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