Congenital Erythropoietic Porphyria about a succcessful evolution case

Abstract

BACKGROUND: Congenital erythropoietic porphyria is an extremely rare autosomal recessive disease. Caused by a deficiency of the enzymatic activity of uroporphyrinogen synthetase III (UROS), collect accumulation of porphyrins of the type I isomer and alterations in the synthesis of the heme group, responsible for the clinical manifestations, mainly cutaneous, hematological, ophthalmic and bone. Diagnosis is based on elevated levels of type I uroporphyrinogen in urine and fecal coproporphyrinogen and clinical findings. CLINICAL CASE: This is a 31-year-old female patient who presented since childhood, multiple hyper and hypopigmented macules both on the back of the hands and on the face, slight destruction of the nasal cartilage, areas of scarring and perioral retraction, sclerodermiform changes, erythrodontia and marked retraction of the phalanges, who was diagnosed with congenital hematopoietic porphyria, who began conservative treatment, achieving an adequate evolution and clinical stability. CONCLUSIONS: It is important to know the different manifestations of this disease to show a prompt diagnosis and avoid known progression, since despite being a rare disease, it can have high morbidity in untreated patients.