Facial cutaneous lesions of dental origin: A case series emphasizing the awareness of the entity and its medico-legal consequences.

INTRODUCTION: Facial cutaneous lesions of dental origin are rare and hence the correct diagnosis is usually missed on the initial presentation to the surgeon. We present the largest series in the surgical literature to increase the awareness to this entity and emphasize that the wrong diagnosis may lead to medico-legal claims. PATIENTS AND METHODS: This is a retrospective study of 28 patients seen between 1994 and 2017. RESULTS: The series had one child and 27 adults. The presentation varied and included: a nodule, a subcutaneous soft mass, a sinus, an abscess, a cyst, a pigmented skin lesion and a scar. Thirteen cases had an initial wrong diagnosis and of these 4 had surgery to the lesion. Two out of the 4 surgically treated lesions ended with medico-legal claims. CONCLUSIONS: The surgeon should be aware of this rare entity and have a high index of suspicion. Dental treatment is curative and there is no need to operate the facial lesion. The wrong diagnosis and unnecessary surgery may lead to medico-legal claims.

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Meckel-Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. Despite the relatively common occurrence of this syndrome among Arabs, little is known about its genetic architecture in this population. This is a series of 18 Arab families with MKS, who were evaluated clinically and studied using autozygome-guided mutation analysis and exome sequencing. We show that autozygome-guided candidate gene analysis identified the underlying mutation in the majority (n=12, 71%). Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes. These include C5orf42, Ellis-van-Creveld disease gene EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis. This is the largest and most comprehensive genomic study on MKS in Arabs and the results, in addition to revealing genetic and allelic heterogeneity, suggest that previously reported disease genes and the novel candidates uncovered by this study account for the overwhelming majority of MKS patients in our population.