Successful Isotretinoin Treatment of Acne in a Patient with Apert Syndrome

Abstract

Sir, Apert syndrome (acrocephalosyndactyly type I), first described in 1906 by the French physician Eugene Apert, is a rare autosomal dominant congenital disorder characterized by the premature obliteration of the craniofacial sutures and syndactyly of the hands and feet (1). In most patients it is caused by a localized mutation in the gene encoding for the fibroblast growth factor receptor (FGFR2), which is responsible for the development of embryonic skeleton, epithelial structures and connective tissue (2). An incidence of 1:160,000 live births was found in a British study (1), but a higher birth prevalence (1:65,000 or 15.5 per million) was estimated several decades later (3). More than 98% of cases are caused by a new mutation, which is of paternal origin, and association with older paternal age has been implicated. The irregular obliteration of the cranial sutures results in different craniofacial deformities, hypertelorism, dental and palatal abnormalities and a tendency towards proptosis of the eyes (1, 4). Several other skeletal deformities as well as cardiovascular, urogenital, gastrointestinal, respiratory and skin abnormalities have been described. Increased intracranial pressure may lead to hydrocephalus, abnormal brain development, and different levels of mental retardation, blindness and death. Early neurosurgical intervention is therefore essential for a good prognosis in these patients (4). Since 1970 Apert syndrome has been discussed also in dermatological literature; Solomon et al. (5) were the first to describe pilosebaceous abnormalities in these patients. Early appearance of widespread and severe acne, resistant to conventional therapies, is a common feature in these patients. We describe here a patient with Apert syndrome and severe acne who had a good response to treatment with isotretinoin, and discuss previous reports of the use of oral isotretinoin in this syndrome.