An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.

Robert A Kennedy,Selvam Thavaraj,Salvador Diaz-Cano

doi:10.1007/s12105-017-0778-1

Robert A Kennedy, Selvam Thavaraj + Show 1 more

Open Access

https://doi.org/10.1007/s12105-017-0778-1

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Journal: Head and Neck Pathology	Publication Date: Jan 21, 2017
Citations: 18	License type: cc-by

Affiliation: King's College London, Guy's Hospital

Abstract

Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). The pertinent features of these syndromes are reviewed with a systems-based approach, emphasising their clinical impact and diagnosis.

Highlights

Several autosomal dominant inherited tumour syndromes involve the oral and maxillofacial region
In most of these syndromes, the manifestations are most predominant in a single organ system such as the skin, gastrointestinal tract (Peutz–Jegher and Gardner syndromes) or endocrine system
Osteomas in the oral and maxillofacial region are typical of Gardner syndrome and have been found in more than 50% of patients with familial adenomatous polyposis syndrome (FAP) [78] (Fig. 5)

Summary

Introduction

Several autosomal dominant inherited tumour syndromes involve the oral and maxillofacial region. The typical mucocutaneous manifestations of Cowden syndrome are multiple facial trichilemmomas, acral keratoses and papillomatous lesions [1]. Tuberous sclerosis complex is a highly variable syndrome characterized by benign tumours in multiple organ systems. Multiple papillomatous papules arise on the oral mucosa most commonly on the ventral tongue, lips, buccal mucosa, gingivae and palate [5, 7]. Multiple facial angiofibromas occur in the most cases around the nose, appearing as firm skin coloured 2–3 mm telangiectatic papules [4, 16]. Facial angiofibromas are described in multiple endocrine neoplasia 1 and Birt–Hogg–Dubé syndrome but are less prominent features. “Confetti” skin lesions (numerous 1- to 3-mm hypopigmented macules scattered over the extremities)

Multiple renal cysts

Macrocephaly

Findings

Discussion

Conclusion