endocrine and metabolic disorders
Erythropoietic Protoporphyria and X linked Protoporphyria
Symptoms and Signs
Symptom severity in erythropoietic protoporphyria and X-linked protoporphyria varies greatly, even among patients within a single family. One study suggests that higher levels of erythrocyte protoporphyrin are a major determinant of disease severity and risk of liver dysfunction in patients with EPP or XLPP ( Symptoms and signs reference ). Most patients develop symptoms in early childhood. Brief exposure to sunlight can cause severe pain, burning, erythema, and edema of the exposed skin. Usually, an infant or young child cries for hours after even short exposure to sun. Patients are often erroneously said to suffer from "sun allergy." Sometimes skin swelling and erythema may be subtle or absent, and EPP and XLPP may go undiagnosed longer than any other of the porphyrias. The left photo shows erythema, hyperpigmentation and crusting on the face of a young girl with EPP after sun exposure. The photo on the right shows erythema and edema of the hands and wrists of a young boy with EPP after sun exposure. © Springer Science+Business Media In erythropoietic protoporphyria, chronic skin changes include thickening and lichenification of skin over the dorsal aspect of the hand. By permission of the publisher. From Bloomer J, Risheg H. InGastroenterology and Hepatology: Liver. Edited by M Feldman (series editor) and WC Maddrey. Philadelphia, Current Medicine, 2004. This image shows the chronic skin changes (rough, thickened, and leathery skin [lichenification]) that may develop, especially over the knuckles and scalp, in erythropoietic protoporphyria. Image courtesy of Karen McKoy, MD. This photo shows linear perioral furrows (carp mouth) in a person with EPP. © Springer Science+Business Media Crusting may develop around the lips and on the back of the hands after prolonged sun exposure. However, blistering and scarring, as are typical in Porphyria Cutanea Tarda , variegate porphyria, and congenital erythropoietic porphyria (see table If skin protection is chronically neglected, rough, thickened, and leathery skin (lichenification) may develop, especially over the knuckles. Linear perioral furrows (carp mouth) may develop. Patients with XLPP tend to have more severe photosensitivity and liver disease than those with EPP. If unrecognized, erythropoietic protoporphyria and X-linked protoporphyria may cause psychosocial problems because children inexplicably refuse to go outdoors. The fear or anticipation of pain may be so distressing that children become nervous, tense, aggressive, or even develop feelings of detachment from the surroundings or suicidal thoughts. 1.Balwani M, Naik H, Anderson KE, et al: Clinical, biochemical, and genetic characterization of North American patients with erythropoietic protoporphyria and X-linked protoporphyria.JAMA Dermatol153(8):789–796, 2017. doi:10.1001/jamadermatol.2017.1557 