AbdulKarim Fatema A J, Ibrahim Safwat M, Hill Arnold Ad, Ajmal Nadeem
Royal College of Surgeons in Ireland.
Beaumont Hospital, Ireland.
JPRAS Open. 2021 Jun 18;30:23-28. doi: 10.1016/j.jpra.2021.06.005. eCollection 2021 Dec.
Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting in darkening of urine). More rarely, it may affect the breast. This rare and interesting case of a woman with ochronosis of both breasts and chest wall, prompted us to write this case report.
褐黄病是一种综合征,其特征为由于尿黑酸(HGA)的聚合产物在结缔组织中沉积而导致蓝黑色色素沉着。内源性类型(尿黑酸尿症)是一种罕见的常染色体隐性代谢紊乱疾病。该疾病表现为尿黑酸1,2 -双加氧酶缺乏。其特征为皮肤、软骨和巩膜色素沉着、褐黄病性关节病和尿黑酸尿症(导致尿液变黑)三联征。更罕见的是,它可能累及乳房。这位患有双侧乳房和胸壁褐黄病的女性的罕见且有趣的病例促使我们撰写此病例报告。