Hermosilla B Nicolás, De Toro Gonzalo, Molgó Montserrat
Escuela de Medicina, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Servicio de Anatomía Patológica, Hospital Puerto Montt Dr. Eduardo Schütz Schroeder, Puerto Montt, Chile.
Rev Med Chil. 2018 Aug;146(8):943-946. doi: 10.4067/s0034-98872018000800943.
Porphyria cutanea tarda (PCT) is the most common type of porphyria: it is characterized by blistering lesions, erosions and crusts on the back of the hands, associated with photosensitivity and facial hypertrichosis. It is produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the Heme group. This causes accumulation of porphyrins in the liver, which are subsequently mobilized to the skin, where lesions are generated by photosensitivity. This deficiency can be exacerbated by multiple causes. We report a 51-year-old female presenting with the characteristic dermal lesions described above, which disappeared when she discontinued her hormone replacement therapy with estradiol and dydrogesterone. Urinary and blood uroporphyrin and hexacarboxyl porphyrins were elevated and plasma ferritin was 479 ng/ml. Hormone replacement therapy was discontinued and phlebotomies were attempted but not tolerated by the patient. The dermic lesions have not relapsed.
迟发性皮肤卟啉症（PCT）是最常见的卟啉症类型：其特征为手部背部出现水疱性皮损、糜烂及结痂，伴有光敏性和面部多毛症。它是由血红素合成途径中第五种酶——尿卟啉原脱羧酶（UROD）的后天性或遗传性缺乏所致。这会导致卟啉在肝脏中蓄积，随后转移至皮肤，在皮肤中因光敏性产生皮损。多种原因可使这种缺乏加剧。我们报告一名51岁女性，出现上述特征性皮肤损害，在停用雌二醇和地屈孕酮的激素替代治疗后皮损消失。尿和血中的尿卟啉及六羧基卟啉升高，血浆铁蛋白为479 ng/ml。停用激素替代治疗并尝试进行放血治疗，但患者无法耐受。皮肤损害未再复发。
