Phylloid hypermelanosis: a cutaneous marker of several different disorders?

Phylloid hypermelanosis is a less clearly defined pigmentary disturbance than its hypopigmented counterpart, phylloid hypomelanosis. We report the case of a 32-month-old boy who had multiple melanotic macules arranged in a typical phylloid pattern since birth. He also had an abnormal facial appearance, with macrocephaly, frontal bossing, hypertelorism, internal strabismus, and auricular deformities. Psychomotor delay, multiple cystic brain lesions, and bilateral sensorineural hearing loss were also found. A review of associated anomalies as described in this and five previously reported patients with phylloid hypermelanosis shows some vague and inconsistent similarities, such as unusual facial appearance, malformed ears, hearing loss, and mental deficiency, but it is likely that phylloid hypermelanosis represents a class of heterogeneous phenotypes. Future clinical and genetic research may show how many distinct entities can be placed in this group of disorders.