Khayat R, Dupuy A, Pansé I, Bagot M, Cordoliani F
Service de dermatologie, hôpital Saint-Louis, Assistance publique-Hôpitaux de Paris, 1, avenue Claude-Vellefaux, 75010 Paris, France.
Ann Dermatol Venereol. 2013 Oct;140(10):589-97. doi: 10.1016/j.annder.2013.04.092. Epub 2013 May 31.
The clinical features of porphyria cutanea tarda (PCT) are usually distinctive and include blistering on sun-exposed areas, fragile skin, hypertrichosis and hyperpigmentation. Sclerodermatous changes are much less common, and may either reveal PCT or else appear later. We carried out a retrospective study of the files of six female patients presenting such lesions.
Six women (age: 45 to 72 years) were referred for sclerodermatous lesions on sun-exposed areas of the upper body. In four patients, these lesions revealed PCT and in the remaining two patients they were indicative of previously treated but relapsing PCT. Four had sclerodermatous skin changes mimicking morphea of the neck and neckline, the top of the back and the face, while one presented more diffuse facial and cervical sclerosis. Associated alopecia was seen in three patients. The last patient presented isolated sclerodermiform alopecia. Associated malar hypertrichosis was seen in five cases and facial hyperpigmentation was noted in three cases. Four exhibited no blisters, cutaneous fragility, milia or photosensitivity. Histological findings were consistent with morphea or scleroderma in all cases. All patients presented abnormal liver tests: cirrhosis was present in four cases (primitive biliary cirrhosis, alcoholic cirrhosis and hepatitis C) and fatty liver in two cases. In four cases, there was excessive alcohol intake. Uroporphyrin levels were above the normal range in all cases. Local corticosteroid therapy associated with phlebotomy and/or low-dose hydroxychloroquine resulted in complete normalisation of porphyrin levels in four patients, with complete resolution of the cutaneous lesions in two patients and partial improvement in the other two.
Sclerodermatous changes are uncommon in PCT. They are not always late and secondary to the process of healing of blisters but can in fact constitute the first cutaneous symptom of the disease while revealing the underlying liver disease. Even in the absence of blisters, photosensitivity or cutaneous fragility, a diagnosis of PCT must be suspected in a setting of sclerodermatous changes distributed on the neck and face, or the neckline, or scarring alopecia, if associated with abnormal liver tests. Skin biopsy to confirm the diagnosis of scleroderma may delay the diagnosis, which is in fact based on porphyrin level. Normalization of the latter parameter under treatment allows regression of lesions.
迟发性皮肤卟啉病（PCT）的临床特征通常较为独特，包括暴露于阳光下的部位出现水疱、皮肤脆弱、多毛症和色素沉着。硬皮病样改变则较为少见，可能提示PCT，也可能在之后出现。我们对6例出现此类病变的女性患者的病历进行了回顾性研究。
6名女性（年龄45至72岁）因上身暴露于阳光下的部位出现硬皮病样病变前来就诊。4例患者的这些病变提示PCT，其余2例患者的病变表明为先前治疗但复发的PCT。4例患者有类似颈部、领口、背部上方和面部硬斑病的硬皮病样皮肤改变，1例患者表现为更弥漫的面部和颈部硬化。3例患者伴有脱发。最后1例患者表现为孤立的硬皮病样脱发。5例患者伴有颧部多毛症，3例患者有面部色素沉着。4例患者未出现水疱、皮肤脆弱、粟丘疹或光敏反应。所有病例的组织学检查结果均与硬斑病或硬皮病一致。所有患者的肝功能检查均异常：4例患者有肝硬化（原发性胆汁性肝硬化、酒精性肝硬化和丙型肝炎），2例患者有脂肪肝。4例患者有过量饮酒史。所有病例的尿卟啉水平均高于正常范围。局部皮质类固醇治疗联合放血疗法和/或低剂量羟氯喹使4例患者的卟啉水平完全恢复正常，2例患者的皮肤病变完全消退，另外2例患者部分改善。
硬皮病样改变在PCT中并不常见。它们并非总是晚期表现且继发于水疱愈合过程，实际上可能是该病的首发皮肤症状，同时提示潜在的肝脏疾病。即使没有水疱、光敏反应或皮肤脆弱，如果在颈部、面部、领口出现硬皮病样改变或瘢痕性脱发且伴有肝功能检查异常，也必须怀疑PCT的诊断。通过皮肤活检来确诊硬皮病可能会延迟诊断，而实际上诊断是基于卟啉水平。治疗后该参数恢复正常可使病变消退。
