两例埃及类脂蛋白沉积症患者用阿维A成功治愈。
Two Egyptian cases of lipoid proteinosis successfully treated with acitretin.
作者信息
Bakry Ola Ahmed, Samaka Rehab Monir, Houla Nanees Shawky, Basha Mohamed Ahmed
机构信息
Department of Dermatology, Andrology and S.T.Ds, Faculty of Medicine, Menoufiya University, Shebin El Kom, Menoufiya, Egypt;
Department of Pathology, Faculty of Medicine, Menoufiya University, Shebin El Kom, Menoufiya, Egypt.
出版信息
J Dermatol Case Rep. 2014 Mar 31;8(1):29-34. doi: 10.3315/jdcr.2014.1168.
BACKGROUND
Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like material into the skin, upper aerodigestive tract, and internal organs.
MAIN OBSERVATION
We report two cases of lipoid proteinosis. A 2-year-old girl presented with vesiculobullous skin lesions on her face, trunk, extremities and scalp, inability to protrude the tongue and hoarseness of voice that appeared few months after birth. The other case is a 4-year-old girl, who presented with waxy papules on face and trunk, hoarseness of voice and enlarged lips and tongue. The lesions healed leaving pitted scars in both cases. Based on clinical, histopathological and laryngoscopy findings, lipoid proteinosis was diagnosed in both cases. Acitretin was started in a dose of 0.5 mg/kg/day in every child. Complete remission of cutaneous lesions and improvement of the hoarseness was observed after one year.
CONCLUSION
Acitretin may be benificial for treatment of mucosal and cutaneous lesions in lipoid proteinosis.
背景
类脂蛋白沉积症（乌尔巴赫-维特病）是一种罕见的进行性常染色体隐性疾病，组织学特征为过碘酸希夫染色阳性、抗淀粉酶、透明样物质沉积于皮肤、上消化道和内脏器官。
主要观察结果
我们报告两例类脂蛋白沉积症病例。一名2岁女童出生后数月出现面部、躯干、四肢和头皮的水疱大疱性皮肤病变、不能伸舌和声音嘶哑。另一例是一名4岁女童，表现为面部和躯干的蜡样丘疹、声音嘶哑以及嘴唇和舌头肿大。两例病变愈合后均留下凹陷性瘢痕。根据临床、组织病理学和喉镜检查结果，两例均诊断为类脂蛋白沉积症。每个患儿均开始服用阿维A，剂量为0.5毫克/千克/天。一年后观察到皮肤病变完全缓解，声音嘶哑有所改善。
结论
阿维A可能对治疗类脂蛋白沉积症的黏膜和皮肤病变有益。
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