Vitiligo in a 9-year-old girl with koolen-de vries syndrome

Abstract

Koolen-de Vries syndrome (KdVs, OMIM #610443), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by typical facial dysmorphism, congenital malformations in multiple organ systems, musculoskeletal anomalies, developmental delay, neonatal hypotonia, epilepsy, and mild-moderate intellectual disability. Ectodermal anomalies have also frequently been reported. Koolen-de Vries syndrome is caused by either a KANSL1 gene mutation, or a microdeletion of 17q21.31 which encompasses multiple genes, including KANSL1. We report the case of a 9-year-old girl with KdVs who presented to our dermatology department for evaluation of progressive pigment loss on her upper and lower limbs, trunk, and face over the past three years. Clinical examination revealed subtle facial dysmorphism, including a long face, broad nasal bridge, and bulbous nasal tip. Sharply defined depigmented patches with central freckling were present over both knees, dorsal surfaces of the feet, toes and fingers, medial malleoli, elbows, flanks, and circumferentially around the lips and right eye. Clinical features were in keeping with a diagnosis of vitiligo. It has been hypothesized that vitiligo may be a phenotypic feature of KdVs, and that one or more genes within the 17q21.31 segment may regulate the mechanisms associated with skin pigmentation or influence the expression of ectodermal features. The present case further confirms that vitiligo may be part of the clinical spectrum of KdVs. We support the current body of evidence proposing that cutaneous manifestations, including pigmentary abnormalities, should be considered among the major clinical features associated with this condition.L6366713492021-12-27 <br />