Chetty Manogari, Roomaney Imaan, Oosterwyk Chandré, Manyisa Noluthando, Bope Christian Domilongo, Agenbag Gloudi, Wonkam Ambroise
Department of Craniofacial Biology, Faculty of Dentistry, University of Western Cape, Bellville, South Africa.
Department of Pathology, University of Cape Town, Cape Town, South Africa.
BDJ Open. 2022 Sep 22;8(1):28. doi: 10.1038/s41405-022-00120-w.
Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD.
The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth.
The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state.
This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD.
派尔病（PD），即家族性干骺端发育异常[OMIM 265900]，是一种罕见的常染色体隐性疾病，可导致长骨干骺端增宽、皮质骨变薄和膝外翻。我们详细介绍了一名患有派尔病的南非患者的口腔和牙齿以及分子学检查结果。
该患者接受了临床、影像学和分子学检查。对一颗脱落的牙齿进行扫描电子显微镜分析，并与对照牙齿进行比较。
该患者出现长骨明显的烧瓶样畸形（EFD）和数块缝间骨。其牙齿发育延迟约三年。恒牙磨牙为中牛牙症。包括颌骨和颈椎在内的骨骼显示出骨质疏松改变。牙槽骨硬板缺失，髁突颈部缺乏正常缩窄。对乳切牙的离子成分分析发现镁缺失。桑格测序显示，该患者在SFRP4基因第5内含子中存在一种纯合状态的新的假定致病变异（c.855+4delAGTA）。
本研究首次报道了一名患有派尔病的非洲患者中SFRP4基因突变的情况，并强调需要让牙科医生了解派尔病的特征及其对治疗的影响。
