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Gnathodiaphyseal dysplasia

Journal of Perinatology volume 34, pages 412–414 (2014)Cite this article

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The biopsy of the mandible demonstrated a fibro-osseous benign lesion with psammomatous bodies or calcospherites, but without giant cells. A radical debulking procedure of the mandibular and maxillary lesions further defined the jaw lesion as a cemeno-ossifying fibrous lesion characteristic of autosomal dominant gnathodiaphyseal dysplasia (GDD). GDD is a osteodysplasia characterized by cemento-ossifying fibroma with psammomatous bodies in the mandible and maxilla, abnormal long bones with increased osseous fragility, anterior bowing particularly of the tibiae and fibulae and diaphyseal sclerosis with overall osteopenia.1, 2 GDD was first described in a large Japanese kindred3 and has a characteristic autosomal dominant inheritance pattern. The disease was found to be linked to mutations in the transmembrane protein 16E in the locus 11p14.3-15.1.3, 4 Characteristically the disease has presented in early childhood with jaw lesions. These jaw lesions usually present with pain, swelling and discharge. Mandibular and maxillary purulent osteomyelitis may also occur and teeth may fall out with poor healing after dental extraction. However, fractures often following trivial trauma and bowing in these patients have developed subsequent to the jaw lesions in the second decade of life between 12 and 14 years of age, in contrast to our patient, who presented in utero with bowed bones. In one family with probable GDD, a high grade femoral osteogenic sarcoma developed at 12 years of age.5 The cognitive development of patients with GDD is normal.

The differential diagnoses of jaw and long-bone lesions is primarily polyostotic fibrous dysplasia, with enicrinopathy, the McCune–Albright syndrome. This was excluded in this case by the pathologic appearance of the jaw lesions, the radiographic appearance of the long-bone lesions and the absence of characteristic GNAS1 gene mutations.6 The jaw lesions can be distinguished pathologically from those occurring in cherubism. Cherubism7, 8 is a autosomal dominant disease with fibro-osseous lesions of the mandible. However, the lesions are not usually present until 2 years of age and the condition has a benign course, often with resolution at puberty. It is not associated with long-bone lesions, or osseous fragility. The jaw lesions of cherubism, although not pathognomonic do contain characteristic giant cells.

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman, M J Siegel & K Sargar

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. & Sargar, K. Gnathodiaphyseal dysplasia. J Perinatol 34, 412–414 (2014). https://doi.org/10.1038/jp.2013.178

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