Lentiginosis Profusa Syndrome (Multiple Lentigines Syndrome)

A mother and daughter exhibited typical manifestations of lentiginosis profusa syndrome, including widespread lentigines, hypertelorism, defective oculomotility, hearing loss, and cardiopathy. Previously unreported findings included granular cell "myoblastomas," pronounced degree of oculomotor defects, interdigital webs, onychodystrophy, certain dermatoglyphic abnormalities, and a distinctive pattern of lentigines fading on the upper part of the trunk around mid-life. An underlying neurogenic disorder, possibly mutant stem cells in the embryonic neural crest, might account for the melanocytic alterations, granular cell neoplasms, oculomotor defects, hearing loss, and cardiac conduction defects. Dermabrasion eradicated many of the facial lentigines. Since typical sized lentigines gave no evidence of evolving into nevocytic nevi, cosmetic benefits derived from dermabrasion of sufficient depth may be lasting. Lentiginosis profusa syndrome shares a constellation of manifestations with other genopathies, notably neurofibromatosis and Noonan's syndrome.