Capillary malformations in a child with Kabuki syndrome: A c
JAAD case reports presents a case of a 4-year-old white girl with genetically proven KS type I, showing a mutation of the KMT2D gene on chromosome 12. The patient was a firstborn child, born at 37 weeks through vacuum-assisted vaginal delivery. She had orofacial cleft and mental retardation resulting in developmental disabilities. Despite speech therapy, only nonverbal communication was possible, as she remained unable to produce words. She walked since the age of 2. Her social skills were improving, and she was playing with other kids. We observed no difficulties with understanding and following instructions.

She was referred to the dermatology outpatient department with striking patchy capillary malformations (CM) (para)medially on the (left) upper back and bilaterally along the lumbosacral region. These malformations were present since birth, were slowly expanding in width, and remained visibly unchanged to the patient's parents with regard to thickness and brightness. The malformations were asymptomatic; hence, no additional dermatologic analysis or treatment was applied.

General physical examination found that the patient had a small length (96 cm [-1.94 standard deviation (SD)]) and normal weight (14,4 kg [-0.03 SD]), head circumference (49 cm [-0.63 SD]) and body mass index (15,6 kg/m2 [0,18 SD]). Cardiac ultrasonography and lumbar and thoracic spine ultrasonography found no abnormalities. Abdominal ultrasonography unveiled a urogenital malformation, showing a duplicated ureter. No additional magnetic resonance imaging scan was made, which would be indicated to rule out other dysgraphia defects associated with CM in the lumbosacral region.

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