Porfiria eritropoyética congénita: una enfermedad infrecuente.

BACKGROUND: Congenital erythropoietic porphyria, or Günther's disease, is a non-acute cutaneous porphyria that is characterized as a rare autosomal recessive disorder, currently approximately 200 cases have been reported in the world with a prevalence of 0.9 per 1,000,000 habitants. CLINICAL CASE: A 38-year-old female patient who consulted for a 12-hour clinical presentation of epigastralgia associated with hematemesis and multiple diarrheal episodes without mucus; additionally she presented dyspnea, cough, edema and thickening of the skin that predominated in the legs, spontaneous ulceration of the skin of the hands and face. History of hirsutism, virilization, and sclerodactyly. On physical examination she had icteric scleras, subconjunctival hemorrhages, atrophic scars on the nasal dorsum and accentuation of barcode lines, erythrodontia, jugular engorgement, occasional rales on the right base, sclerodactyly, calcinosis in hands and face, marked hirsutism, ichthyosis in the lower limbs, lenticular macules, deformity on the back of the hands and pigmentary changes on the outside of the forearms. The paraclinic studies confirmed the diagnosis of congenital erythropoietic porphyria. CONCLUSIONS: Congenital erythropoietic porphyria is an infrequent disease, which occurs mainly in people with a family history, and is due to a deficiency of the enzyme uroporphyrinogen III. The most relevant clinical manifestations are cutaneous photosensitivity, erythrodontia, corneal lesion, chronic hemolytic anemia, and changes in the color of the urine from pink to dark red. [ABSTRACT FROM AUTHOR]