Papillon-Lefèvre Syndrome: Report of Two Familial Cases

Abstract

Two cases with Papillon-Lefèvre Syndrome (PLS) are reported. They are two brothers belonging to a family in which there is strong consanguinity. An autosomal recessive pattern of inheritance is suggested. Some pathological findings as congenital bronchiectasis observed in one of the patients as well as the PLS features are discussed and considered to be fortuitous defects. These observations are compared with those described in the literature.

Papillon-Lefèvre Syndrome

“…Although classically periodontosis has been reported to occur in both dentitions, in our case it did not occur in the deciduous one, a finding which coincides with that made in patient 2 in our previous publica tion [2], It is usual in these patients, as one can see in figure 3c, that the only teeth which are preserved are the tertiary molars, a fact repeatedly described [6,15] but never defi nitely explained, although we assume that this is due to their later occurrence and their strong anchorage.…”

“…But although the disease does not have a familial character since only one member is affected, it would seem reason able to suggest a recessive autosomal mech anism of inheritance, a hypothesis first dis cussed by Jansen [8] and Gorlin [6] and later substantiated by different familial cases pub lished in the world literature. According to a previous study published by ourselves [2], there probably was consanguinity in only 11…”

“…On the hands, attention is called by the presence of punctate depressions or 'pits' which were very obvious in the thenar and hypothenar prominences but which were al so visible on the fingertips; this has not been reported in the literature [2,11], The transgredient character was pronounced in our patient, in whom the lesions extended from both hands and feet and affected the elbows and knees, and, as in the case of Ziprkowski et al [15], they covered the complete dorsal side of both hands. It is worth rementioning the lesional invasion of both pretibial crests at the age of 10 years, a rare occurrence [4].…”

Papillon‐Lefevre Syndrome: A Case Report

“…Pyogenic infections also involve internal organs such as the liver or the lungs and may lead to death (15, 16). Disturbances in the number and immunologic function of PMNs, lymphocytes, and natural killer cells have been noted in some cases (5–7, 9, 14–22). However, the deficiency of humoral or cellular function in vivo is not significant enough to explain the extensive periodontal destructions in all cases.…”