Leopard Syndrome

Leopard syndrome, or multiple lentigines syndrome, refers to an inherited disorder characterized by a large number of lentigines, or spots similar to freckles. It is a genetic autosomal dominant trait that causes skin markings darker than freckles, present since birth and is mostly located on the neck and trunk. The symptoms of leopard syndrome include abnormal genitalia, delayed or absent puberty, hearing problems, café-au-lait spots (or light brown birthmarks), delayed or absent puberty, hypogonadism, pectus carinatum, multiple spots on trunk and neck, prominent ears, slow growth, undescended testicles, and hypertelorism. An ideal treatment would be to use a hearing aid. Hormonal treatment would be needed at the expected time of puberty. Laser or bleaching creams helps in lightening of the brown spots.