Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome?

We observed 2 families with 26 individuals affected by multiple lentigines syndrome (MLS). All patients had extensive generalized lentigines, including in the axillary and inguinal regions, diffuse hyperpigmentation, hypopigmented patches, and hyperpigmented patches, many of which appeared clinically to be cafe au lait spots. Multiple lentigines syndrome should be considered in the differential diagnosis of multiple cafe au lait spots in children, particularly since the spots are usually present before the lentigines develop and may be clinically indistinguishable from the cafe au lait spots of neurofibromatosis. No significant noncutaneous features occurred in the two families with three generations of affected individuals, suggesting that MLS is a distinct entity. However, patients with the noncutaneous abnormalities of the LEOPARD syndrome have been described in families in which most members had pigmentary lesions only. Therefore, patients with multiple lentigines should be evaluated for noncutaneous abnormalities, particularly hearing loss and cardiac anomalies. Similarly, until investigators demonstrate lack of genetic linkage between MLS and LEOPARD syndrome, genetic counseling of patients affected by the cutaneous features of the former should include the potential for noncutaneous features in offspring.