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常染色体隐性二肽基肽酶缺乏症。三名患有顽固性溃疡的患者。

Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.

作者信息

Ogata A, Tanaka S, Tomoda T, Murayama E, Endo F, Kikuchi I

出版信息

Arch Dermatol. 1981 Nov;117(11):689-97.

PMID:7316526
Abstract

Three patients had prolidase deficiencies. The family pedigree of these three patients suggests that this rare disorder is inherited through an autosomal recessive gene. this genodermatosis is characterized by a number of signs and symptoms referable to the skin, CNS, teeth, ears, nose, throat, eyes, bones, and joints. Among the skin changes, recalcitrant leg ulcers are the most characteristic. At this time, there is no established method of treatment of this rare disorder, but the use of dapsone was helpful in the treatment of one of our patients.

摘要

三名患者患有脯氨肽酶缺乏症。这三名患者的家族谱系表明,这种罕见的疾病是通过常染色体隐性基因遗传的。这种遗传性皮肤病的特征是出现许多与皮肤、中枢神经系统、牙齿、耳朵、鼻子、喉咙、眼睛、骨骼和关节相关的体征和症状。在皮肤变化中,顽固性腿部溃疡最为典型。目前,对于这种罕见疾病尚无既定的治疗方法,但氨苯砜对我们其中一名患者的治疗有帮助。

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