A Novel Dental and Maxillofacial Sign in Aarskog Syndrome: A Family Case and Review of the Literature

Abstract

Objective: To describe a case of a novel mutation with dental and maxillofacial expression in a family with Aarskog syndrome and to conduct a literature review to determine the importance of a multidisciplinary approach in the pathology. Methods: The authors described a family of a father and mother and 7 children (5 sons affected). The first child is evaluated for multiple mandibular osteolytic lesions and dental malocclusion with eruption disorders. The patient presents facial features of Aarskog syndrome, such as hypertelorism and eyelid ptosis with epicanthal folds, but also an unusual sign of numerous comedones distributed over the body. A literature review on dental and maxillofacial signs in Aarskog syndrome was conducted on Scopus and Pubmed with specific keywords. Results: Osteolytic lesions are described as orthokeratotic keratocysts with giant cellular, foreign body type, calcifications, and bone spicules. A recurrence occurred 2 years after surgery of keratocysts. Ten articles were selected for the description of dental and maxillofacial features associated with Aarskog syndrome. Discussion: Literature has paid little attention to different phenotypic characterizations in the maxillofacial region of patients with Aarskog syndrome. It is important to determine an early diagnosis to provide the best treatments for patients. The family described has some peculiarities: (1) a new nucleotide variation, (2) the sample size, (3) features as multiple comedones of the body, and keratocysts of the jaws are never described in the literature. Conclusion: Clinical and radiological maxillofacial signs, often not evaluated in Aarskog syndrome, should be considered early to obtain an optimal treatment.