Capillary malformations in a child with Kabuki syndrome: A case report

Abstract

Certain genetic syndromes can result in characteristic cutaneous abnormalities, which may lead directly to the diagnosis of the underlying disease. Early diagnosis and treatment of these syndromes are often important to improve treatment and the patient's development. Kabuki syndrome (KS) is a pediatric congenital disorder of genetic origin with complicated manifestations, occurring in approximately 1 of 32,000 newborns.1 KS was first described in Japan in 1981 and is named after a Japanese dance drama.2 The notable eyes characteristic for KS patients resembles the makeup used in Kabuki theater, showing eversion of the lateral lower eyelids and broad, arched eyebrows with lateral sparseness.1 The 5 main typical manifestations of KS include facial features, skeletal anomalies, dermatoglyphic abnormalities, mild-to-moderate intellectual disability, and postnatal growth deficiency.3 The clinical features expressed vary widely between individual patients. Beside the main manifestations, other malformations are common, such as urogenital and cardiac malformations.2 Following recent advances in epigenetics, is it now known that KS is mainly caused by a dominant de novo pathogenic mutation. In 52% to 76% of patients, the mutation is located on the KMT2D gene of chromosome 12 and is called KS type I. In the other variant, the mutation is located on the KDM6A gene on chromosome X, which is inherited in an X-linked dominant pattern and is called KS type II.3 Both the KMT2D gene and the KDM6A gene regulate histone expression. Mutations in these genes result in abnormal histone functioning, resulting in impaired expression of certain other genes. The KMT2D gene plays a critical role in regulating development, differentiation, metabolism, and tumor suppression.4 The KDM6A gene plays a critical role in developmental regulation.5 Unlike in KS type I, developmental delay and learning disabilities are generally moderate to severe in boys but mild to moderate in girls with KS type II due because of the X-linked inheritance pattern.6