hormonal and metabolic disorders
Erythropoietic Protoporphyria and X Linked Protoporphyria
Symptoms
Symptoms usually start in childhood. Severe skin pain and swelling develop soon after even brief exposure to sunlight. Crusting may develop around the lips and on the back of the hands after prolonged sun exposure. Because blistering and scarring do not occur, doctors usually do not recognize the disorder. These children with erythropoietic protoporhyria have redness, hyperpigmentation (darkening), and crusting on the face and redness and swelling of the hands after sun exposure. © Springer Science+Business Media This photo shows rough, thickened, and leathery skin on the hand of a person who has erythropoietic protoporphyria. 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 photo shows deep grooves (carp mouth) that have developed in a person who has erythropoietic protoporphyria. © Springer Science+Business Media Gallstones cause characteristic abdominal pain. Liver damage may lead to increasing If skin protection is chronically neglected, rough, thickened, and leathery skin (lichenification) may develop, especially over the knuckles. Deep grooves may develop around the mouth (carp mouth). People with X-linked protoporphyria tend to have higher levels of protoporphyrin in their red blood cells, plasma, and other tissues and, therefore, more severe reactions to sunlight and more severe liver disease than those with erythropoietic protoporphyria. Children in whom erythropoietic protoporphyria and X-linked protoporphyria is unrecognized may develop psychosocial problems because they inexplicably refuse to go outdoors. They have often been misdiagnosed for years as having "allergy" to sunlight. The fear or anticipation of pain may be so distressing that children become nervous, tense, aggressive, or develop feelings of detachment from the surroundings or even suicidal thoughts. Young children often cannot describe their symptoms, so doctors and parents may have difficulty connecting their discomfort to sun exposure. 