Hattab Faiez N, Amin Wala M
Family Dental Clinic, Doha, State of Qatar.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005 Dec;100(6):709-16. doi: 10.1016/j.tripleo.2004.08.030.
Papillon-Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the condition suggests that there is a genetic basis for susceptibility to specific virulent pathogens. Variation in the clinical presentation of PLS has recently been observed.
The objective was to present the first report, which describes the concurrence of PLS and albinism. The etiology, pathology, and management of the condition were reviewed and genetic analysis was performed. SUBJECTS AND CLINICAL PRESENTATION: The probands are Jordanian brothers aged 13 and 20 years on their initial presentation. The parents were second cousins and not affected. The patients exhibited the typical clinical features of PLS with type 1 oculocutaneous albinism (OCA1). They also had increased susceptibility to infection manifested in recurrent tonsillitis, respiratory tract infection, pyoderma, onychogryphosis, and other pathosis. Skin biopsy demonstrated hyperkeratosis, focal parakeratosis, hypergranulosis, and acanthosis. Ectopic calcification of the dura was noticed in one of the probands. Hematological parameters tested were within the normal limits. The probands were tested for mutations in the causative genes of PLS and OCA1, cathepsin C (CTSC), and tyrosinase, respectively. Independent mutations (c.318-1G>A and c.817G>C/p.W272C) were identified in CTSC and tyrosinase, respectively. The probands were homozygous and their sister who had only PLS was homozygous for the same (CTSC) mutation but heterozygous for tyrosinase gene.
We hope that this report of coinheritance PLS and albinism will initiate further investigations to disclose other possible variations that may enhance our knowledge on gene mutations of this intriguing syndrome.
帕皮隆 - 勒费弗尔综合征（PLS）是一种非常罕见的常染色体隐性疾病，其特征为掌跖角化过度以及严重的早发性破坏性牙周炎，导致乳牙和恒牙过早缺失。该病症的病因发病机制表明，对特定致病性病原体的易感性存在遗传基础。最近观察到PLS临床表现存在差异。
目的是呈现首例描述PLS与白化病并发的报告。对该病症的病因、病理及治疗进行了回顾，并进行了基因分析。
先证者是两名初诊时年龄分别为13岁和20岁的约旦兄弟。父母是二级亲属且未患病。患者表现出PLS的典型临床特征以及1型眼皮肤白化病（OCA1）。他们还对感染的易感性增加，表现为反复扁桃体炎、呼吸道感染、脓疱病、甲癣及其他病症。皮肤活检显示角化过度、局灶性不全角化、颗粒层增厚和棘层肥厚。在一名先证者中发现硬脑膜异位钙化。所检测的血液学参数在正常范围内。分别对先证者进行了PLS和OCA1致病基因、组织蛋白酶C（CTSC）和酪氨酸酶的突变检测。在CTSC和酪氨酸酶中分别鉴定出独立突变（c.318 - 1G>A和c.817G>C/p.W272C）。先证者为纯合子，其仅有PLS的妹妹对于相同的（CTSC）突变是纯合子，但酪氨酸酶基因为杂合子。
我们希望这份关于PLS和白化病共遗传的报告能够引发进一步的研究，以揭示其他可能的变异，从而增进我们对这种有趣综合征基因突变的了解。
