Tuberous Sclerosis Presenting with Connective Tissue Nevi Only: Usefulness of Genetic Testing / 대한피부과학회지

ABSTRACT

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with variable manifestations. The diagnosis is based on clinical criteria, and is divided into definite, probable, and possible TSC. If patients present with mild symptoms, clinicians may hesitate to perform further evaluations because of the high economic burden. A 16-year-old male presented with multiple skin-colored papules on the lower back and buttock. The histopathologic findings were compatible with connective tissue nevi (CTN). No other findings were observed with the exception of one hypomelanotic macule on the left shin. As the patient's parents wished to confirm the diagnosis, genetic testing was performed, and a TSC1 gene mutation was detected. With this genetic result, further evaluations were performed without hesitation. Genetic testing is a sensitive and specific modality for the diagnosis of TSC. We report a case of TSC presenting with CTN only, in which genetic testing was very useful to confirm the diagnosis and to determine the appropriateness of further high-cost studies.