Hyperkeratosis-Hyperpigmentation Syndrome

Cantu et al. (1978) reported a family in which 9 individuals in 3 consecutive generations (including an instance of male-to-male transmission) were affected by a 'new' syndrome characterized by hyperpigmented spots, mainly in skin areas exposed to sunlight, and mild palmoplantar papular hyperkeratosis. Figuera et al. (1993) described the same disorder in a 22-year-old female who was the youngest of a sibship of 7 and the only one affected. Her father was 42 at the time of her birth. De novo dominant mutation was proposed. She had sought medical assistance because of dark spots first noted at the age of 12 years.