Apert syndrome: A dermatologist’s perspective

Abstract

Apert syndrome is a Type 1 acrocephalosyndactyly syndrome presenting predominantly with craniofacial malformations and syndactyly. It can present with a multitude of clinical features involving any system of the body. A literature search of the PubMed electronic database was performed using the keywords “Apert syndrome” and “dermatology” in the title. The relevant references of the included articles were traced and included. A total of 27 articles appeared, the abstracts of which were screened and reviewed by both the authors independently for inclusion. After carefully analyzing all papers case by case, 21 such cases were retrieved. Cases presenting with other clinical features apart from dermatological features were also reviewed but were not included in the table. A total of about 30 patients of Apert syndrome have been described in dermatological literature, acne being the most common dermatological manifestation. Predominant clinical features in all the cases were brachycephaly due to craniosynostosis and syndactyly of hands and feet. Most of the patients had skeletal, dental, gastrointestinal, genitourinary, respiratory, cardiovascular, and dermatological manifestations in varying proportions. Apert syndrome is a rare entity which can present to a dermatologist. It is, therefore, pertinent to be able to diagnose and recognize the various clinical features of this syndrome to ensure timely management of such patients.