Marques L, Mesquita-Guimarães J, Ferreira M R, Dos Santos F R
Cátedra de Dermatologia e Venereologia, Hospital de S. João, Porto. Portugal.
Med Cutan Ibero Lat Am. 1987;15(3):208-12.
We describe a 35 year old woman with shortness of stature, skin and muscle atrophy of the face and lower limbs, peripheric arthropathies, feet deformity, plantar hiperqueratosis, alopecia, canities, bilateral cataracts and bitonal voice. At the age of 21, the patient started having plantar hiperqueratosis, deformity and stiffness of the feet joints. At the time of the examination the patient had neither diabetes mellitus, nor peripheric arteriopathies or neoplasms. There wasn't a family history and the parents weren't consanguinous.
我们描述了一位35岁的女性，她身材矮小，面部和下肢皮肤及肌肉萎缩，患有外周关节病、足部畸形、足底角化过度、脱发、白发、双侧白内障和双音调嗓音。患者21岁时开始出现足底角化过度、足部关节畸形和僵硬。检查时，患者既没有糖尿病，也没有外周动脉疾病或肿瘤。没有家族病史，父母非近亲结婚。
