Amar Patel

All articles by Amar Patel

Erythropoietic Protoporphyria (Protoporphyria, Heme synthetase deficiency, Ferrochelatase deficiency, X-linked dominant protoporphyria [XLDPP], Erythrohepatic protoporphyria [no longer used])

Are You Confident of the Diagnosis? What you should be alert for in the history Patients are usually diagnosed with erythropoietic protoporphyria (EPP) in infancy, with the rare exception of acquired EPP associated with certain types of cancers. EPP patients often present with photosensitivity (burning and stinging sensation when exposed to sunlight), weakness, malaise, easy…

LEOPARD Syndrome (Lentigines, EKG abnormalities, Ocular Hypertelorism, Pulmonary stenosis, Abnormal Genitalia, Retarded Growth, Deafness; Also known as Multiple lentigines syndrome and Cardiocutaneous syndrome, Gorlin syndrome II, Cardio-Cutaneous syndrome, Lentiginosis profusa, Moynahan syndrome, or Progressive Cardiomyopathic Lentiginosis)

Are You Confident of the Diagnosis? Observed expression of the characteristic phenotypes of LEOPARD syndrome (LS) is extraordinarily variable, making an accurate diagnosis difficult. The minimal criteria that must be met for a diagnosis of LS includes multiple lentigines (Figure 1) and 2 or more of the following: cutaneous abnormalities not including lentigines (cafe noir…

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