Bean-Syndrome in Maxillofacial District

Abstract

Bean syndrome (BS) is a rare congenital angiomatosis affecting multiple organ systems. The exact etiology is still not well-known. About 200 cases with heterogeneous clinical presentations have been reported worldwide. BS predominantly presents with characteristic multifocal mucocutaneous lesions and often leads to iron-deficiency anemia caused by occult blood loss from the gastrointestinal tract. Apart from the mucocutaneous and gastrointestinal tract involvement, this syndrome may rarely affect the craniofacial region in the form of multiple venous anomalies, characterized by being button-like, with a bluish tint, covered by skin, called “Blue Nevus”. Patients often approach a dermatologist or gastroenterologist for treatment and this entity is usually less known among maxillofacial surgeons. This article describes two consecutive cases of BS affecting the craniofacial district, with the aim of spreading greater awareness about this syndrome in the maxillofacial field.

Introduction

Bean syndrome (BS) is a rare vascular syndrome, characterized by multiple venous malformations on the skin, mucous membranes, gastrointestinal tract and more rarely on other organs (liver, kidneys, parotid gland, lungs, heart, brain, thyroid). These are sporadic forms in the majority of cases, but familiar forms have been described, with a gene identified on chromosome 9p, transmitted in an autosomal dominant mode. More recently, Soblet et al. have demonstrated, in these patients, the presence of somatic mutations of the TEK gene encoding the TIE2 protein, the membrane tyrosine kinase-like receptor present on endothelial cells. [1] BS can appear from birth, in childhood, or adolescence, with lesions that tend to increase in number and size in adulthood. Clinically, these are cutaneous lesions generally small, measuring less than 1–2 cm, blue or purple, compressible, and often hyperkeratotic, with a predilection for the palms and soles. The main differential diagnoses are the syndrome of Rendu-Osler, Maffucci syndrome, and Klippel syndrome-Trenaunay. Gastrointestinal disorders include malformation venous vascular malformations or cavernous hemangiomas. The main digestive complications are hemorrhages, disseminated intravascular coagulation, acute intestinal intussusception, or even volvulus. [2, 3]

Epidemiology

BS is a rare disorder, only approximately 200 cases have been reported in the literature. The syndrome affects males and females with the same frequency. The cutaneous manifestations typically present at birth or early childhood, instead of visceral involvement in early adulthood.

Etiology and Histopathology

It is caused by double (cis) mutations in the TEK gene (TIE2), which encodes TEK receptor tyrosine kinase, a transmembrane receptor involved in multiple steps of angiogenesis. The TEK receptor is constitutively active in BS leading to unregulated angiogenesis. [1] Histopathology of cutaneous lesions is not specific and has features of venous malformations. The characteristics are large, tortuous, dilated vessels with a single endothelial lining with calcification inside. [4, 5]

Case Report

A 30-year-old male, with a history of multiple localizations BS with gastrointestinal manifestations requiring a previous endoscopy, presented headaches and intermittent craniofacial pain since the age of eighteen. Due to clinical examination and history, a study was carried out using a CT scan, which shows findings compatible with multiple craniofacial localization of BS (Fig. 1a and b).

Fig. 1.

Endoral (a) and axillary (b) venous malformations compatible with BS manifestations

A 33-year-old woman showed up at our observation for multiple cutaneous injuries. She had a history of constipation and anemia treated with supplementation of iron and folic acid. The clinical examination found paleness cutaneous-mucous membrane, as well as multiple bluish masses soft and painful at the palpation, placed on the inferior surface of the tongue, right buttock, and left thigh. Also in this case, on the basis of clinical examination and history, a study was carried out using a CT scan, which shows findings compatible with craniofacial localization of BS placed at right cheek level (Fig. 2a and b).

Fig. 2.

CT findings compatible with craniofacial localization of BS placed at right cheek level

Discuss and Conclusions

BS is a lesser-known entity among maxillofacial surgeons that requires a high index of clinical suspicion for diagnosis. We consider important, in order to properly diagnose, investigate all the suspicious mucocutaneous lesions. Instrumental suspicion may occur following ultrasound, CT and/or MRI, but histopathological diagnosis is then required. A timely diagnosis may improve the quality of life. The patients affected by this syndrome require a multidisciplinary approach (hematologists, dermatologists, gastroenterologists, ophthalmologists and surgeons) to define the possible implications of the corresponding endovasal obstruction of the anatomical territory concerned. There is no cure for this disorder and the treatment is only supportive, also patients need to be monitored as they are prone to potential complications.

Funding

The author(s) received no financial support for the research, authorship, and/or publication of this article.

Declarations

Competing Interests

The authors declare that they have no competing interests.