Breathnach S M
Department of Medicine (Dermatology), Charing Cross and Westminster Medical School, London, U.K.
J Am Acad Dermatol. 1988 Jan;18(1 Pt 1):1-16. doi: 10.1016/s0190-9622(88)70001-8.
Cutaneous lesions are present in up to 40% of patients with primary and myeloma-associated systemic amyloidosis and occur as a result of tissue deposition of immunoglobulin light chain material derived from a circulating paraprotein. The occurrence of waxy, purpuric mucocutaneous lesions provides a crucial early pointer to underlying occult plasma cell dyscrasia; the combination of the symptoms of the carpal tunnel syndrome, macroglossia, and specific mucocutaneous lesions is highly characteristic. Although secondary systemic (reactive) amyloidosis rarely gives rise to clinically evident cutaneous lesions, it may be etiologically related to a number of chronic dermatoses. Lesions of nodular primary localized cutaneous amyloidosis are indistinguishable from those of primary and myeloma-associated systemic amyloidosis, and they result from local plasma cell infiltration. Macular and papular (lichen amyloidosus) variants of primary localized cutaneous amyloidosis may have a familial or racial basis and are characterized by a tendency for keratinocytes to undergo filamentous degeneration and apoptosis. The prognosis of patients with plasma cell dyscrasia-related systemic amyloidosis remains poor, since there is little response to therapy with cytotoxic agents, colchicine, or dimethylsulfoxide. Colchicine is the drug of choice in the prevention and treatment of the renal amyloidosis associated with familial Mediterranean fever, and dimethylsulfoxide may be useful in the management of patients with secondary systemic amyloidosis. Macular amyloid and lichen amyloidosus generally follow a chronic course with intractable pruritus; there have been isolated reports of the beneficial effect of dermabrasion, topical dimethylsulfoxide, and therapy with the aromatic retinoid, etretinate.
在原发性和骨髓瘤相关的系统性淀粉样变性患者中，高达40%会出现皮肤病变，这是由于循环副蛋白衍生的免疫球蛋白轻链物质在组织中沉积所致。蜡样、紫癜性黏膜皮肤病变的出现为潜在的隐匿性浆细胞发育异常提供了关键的早期线索；腕管综合征、巨舌症和特定黏膜皮肤病变的症状组合具有高度特征性。虽然继发性系统性（反应性）淀粉样变性很少引起临床上明显的皮肤病变，但它可能在病因上与多种慢性皮肤病有关。结节性原发性局限性皮肤淀粉样变性的病变与原发性和骨髓瘤相关的系统性淀粉样变性的病变无法区分，它们是由局部浆细胞浸润引起的。原发性局限性皮肤淀粉样变性的斑疹和丘疹（苔藓样淀粉样变）变体可能有家族性或种族性基础，其特征是角质形成细胞有发生丝状变性和凋亡的倾向。浆细胞发育异常相关的系统性淀粉样变性患者的预后仍然很差，因为对细胞毒性药物、秋水仙碱或二甲亚砜治疗反应甚微。秋水仙碱是预防和治疗与家族性地中海热相关的肾淀粉样变性的首选药物，二甲亚砜可能对继发性系统性淀粉样变性患者的管理有用。斑状淀粉样变和苔藓样淀粉样变通常病程慢性，伴有顽固性瘙痒；有孤立的报告称磨皮、局部使用二甲亚砜和使用芳香维甲酸依曲替酯治疗有有益效果。
