Lestringant G G, Frossard P M, Adeghate E, Qayed K I
Tawam Hospital, Al Ain, United Arab Emirates.
Pediatr Dermatol. 1997 May-Jun;14(3):186-91. doi: 10.1111/j.1525-1470.1997.tb00234.x.
Mal de Meleda (MDM), or recessive transgressive palmoplantar keratoderma, is a rare disorder. MDM may have originated as a founder mutation that occurred on the island of Meleda, now Mljet, in Croatia, where it was first described. However, the condition has also been observed in countries distant from Mljet. The presentation of the disease in young patients has not been reported and the progressiveness of the lesions is debated. We examined four young United Arab Emirates nationals patients (ages 7 months to 12 years) who presented with keratoderma palmoplantaris (KPP) and transgressive pachyderma (TP) that had both been present before 1 year of age. KPP and TP were more pronounced in the two oldest patients. Family histories were consistent with autosomal recessive inheritance. The development of MDM lesions appears to be age-related. However, environment and individual factors may also play a role in the development and persistence of the lesions. Molecular genetic studies are necessary to establish whether the broad clinical presentation of the disease is due to allelic or genetic heterogeneities.
梅莱达病（MDM），即隐性进行性掌跖角化病，是一种罕见的疾病。MDM可能起源于一次奠基者突变，该突变发生在克罗地亚的梅莱达岛（现称姆列特岛），该病最早就是在那里被描述的。然而，在距离姆列特岛较远的国家也观察到了这种病症。关于该病在年轻患者中的表现尚未见报道，且病变的进展情况也存在争议。我们检查了4名阿拉伯联合酋长国的年轻患者（年龄从7个月至12岁），他们均患有掌跖角化病（KPP）和进行性厚皮病（TP），且这两种病症在1岁之前就已出现。KPP和TP在两名年龄最大的患者中更为明显。家族史符合常染色体隐性遗传。MDM病变的发展似乎与年龄相关。然而，环境和个体因素在病变的发展及持续存在过程中可能也起作用。有必要进行分子遗传学研究，以确定该病广泛的临床表现是由等位基因还是基因异质性所致。
