Qorbani Amir, Mubasher Adnan, Sarantopoulos George Peter, Nelson Scott, Fung Maxwell Alexander
University of California, San Francisco (UCSF), Department of Pathology and Laboratory Medicine, San Francisco, CA, USA.
Icahn School of Medicine at Mount Sinai Beth Israel, Department of Diagnostic Pathology & Laboratory Medicine, New York, NY, USA.
Autops Case Rep. 2020 Sep 2;10(4):e2020197. doi: 10.4322/acr.2020.197.
Ochronosis is a cutaneous disorder caused by the accumulation of phenols, either endogenously as homogentisic acid in patients with alkaptonuria (autosomal recessive disorder with deficiency of the enzyme homogentisic acid oxidase), or exogenously in patients using phenol products such as topical creams containing hydroquinone or the intramuscular application of antimalarial drugs. Exogenous ochronosis (EO) typically affects the face and was reported in patients with dark skin such as Black South Africans or Hispanics who use skin-lightening products containing hydroquinone for extended periods. Recently more cases have been reported worldwide even in patients with lighter skin tones, to include Eastern Indians, Asians, and Europeans. However, just 39 cases of EO have been reported in the US literature from 1983 to 2020. Here we present two cases; a 69 and a 45-year-old female who were seen for melasma, given hydroquinone 4% cream daily and tretinoin 0.05%. Both patients noticed brown spots on their cheeks, which progressively enlarged and darkened in color. The diagnosis of ochronosis was confirmed by characteristic histopathological features on the punch biopsy. Unfortunately, neither patient responded to multiple treatments (to include, tazarotene 0.1% gel and pimecrolimus ointment, topical corticosteroids, and avoidance of hydroquinone containing products). We also present a case of classic (endogenous) ochronosis in a patient with alkaptonuria to picture the histological similarities of these two entities. EO is an important clinical consideration because early diagnosis and treatment may offer the best outcome for this notoriously refractory clinical diagnosis.
褐黄病是一种皮肤疾病,由酚类物质蓄积引起,这些酚类物质要么是内源性的,如尿黑酸尿症(一种常染色体隐性疾病,缺乏尿黑酸氧化酶)患者体内的尿黑酸,要么是外源性的,如使用含对苯二酚的外用乳膏或肌肉注射抗疟药物的患者。外源性褐黄病(EO)通常累及面部,在长期使用含对苯二酚的皮肤美白产品的深色皮肤患者中有所报道,如南非黑人或西班牙裔。最近,全球范围内报道了更多病例,甚至在肤色较浅的患者中也有,包括东印度人、亚洲人和欧洲人。然而,1983年至2020年美国文献中仅报道了39例EO病例。在此,我们报告两例;一名69岁和一名45岁女性,因黄褐斑就诊,每天使用4%对苯二酚乳膏和0.05%维甲酸。两名患者均注意到脸颊上出现褐色斑点,这些斑点逐渐扩大且颜色加深。通过打孔活检的特征性组织病理学特征确诊为褐黄病。不幸的是,两名患者对多种治疗(包括0.1%他扎罗汀凝胶、吡美莫司软膏、外用糖皮质激素以及停用含对苯二酚的产品)均无反应。我们还报告了一例尿黑酸尿症患者的典型(内源性)褐黄病病例,以展示这两种疾病的组织学相似性。EO是一个重要的临床考虑因素,因为早期诊断和治疗可能为这种 notoriously refractory clinical diagnosis(此处原文有误,推测可能是“ notoriously refractory clinical condition”,意为“ notoriously难治的临床病症”)带来最佳预后。