Reynaldo Arosemena M, Abdiel León R
Med Cutan Ibero Lat Am. 1984;12(3):245-9.
The authors report a case of hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefèvre syndrome) in a five year old male patient. This patient showed hyperkeratosis over palms, soles, knees and premature periodontoclasia. No other abnormalities were detected on physical examination and the personal and familial antecedents were negative. There is no history of consanguinity of his parents. Roentgenographic examination of his skull did not reveal ectopic calcification of the falk cerebri or tentorium. The skin biopsy of the lesions exhibit marked hyperkeratosis, acantosis and a moderate perivascular infiltrate composed mainly of mononuclears, localized in the upper dermis. The corium showed a mild atrophy. We assumed that this case resulted from homozygosity for autosomal recessive genes. Considering this is the first case detected in Panama with a population near two millions habitant, it supports the low frequency of the disorder, estimated roughly at one to four per million persons in the general population, according Gorlin et al.
作者报告了一例5岁男性患者患掌跖角化病伴牙周病（帕皮永-勒费夫尔综合征）的病例。该患者手掌、足底、膝盖出现角化过度，并有牙周过早破坏。体格检查未发现其他异常，个人及家族史均为阴性。其父母无近亲结婚史。对头骨进行X线检查未发现大脑镰或小脑幕异位钙化。病变皮肤活检显示明显的角化过度、棘皮症，以及主要由单核细胞组成的中度血管周围浸润，局限于真皮上层。真皮显示轻度萎缩。我们推测该病例是由常染色体隐性基因纯合所致。鉴于这是在巴拿马近两百万人口中检测到的首例病例，这支持了该疾病的低发病率，根据戈林等人的研究，在一般人群中估计约为百万分之一至四。
