Photosensitivity in the elderly-think of late-onset protoporphyria.

[erythropoietic protoporphyria]

Photosensitivity is the clinical hallmark of both erythropoietic protoporphyria (EPP ) and X-linked dominant protoporphyria (XLDPP ). Both disorders result from a hereditary dysfunction in heme biosynthesis . Disease onset is usually in early childhood . However , rare patients with late-onset EPP in association with a myeloproliferative disorder or myelodysplastic syndrome have been reported . In this issue , Livideanu et al . describe the first patient with late-onset XLDPP .

Diseases
Validation

Diseases presenting "early childhood" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cystinuria

erythropoietic protoporphyria

fabry disease

gm1 gangliosidosis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

papillon-lefèvre syndrome

proteus syndrome

pyruvate dehydrogenase deficiency

triple a syndrome

werner syndrome

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