Book Syndrome

Clinical Features

Book (1950) reported 25 persons in 4 generations of a Swedish family with premolar aplasia, hyperhidrosis, and canities prematura. The author designated the disorder PHC syndrome.

Salinas et al. (1992) described an 18-year-old Caucasian woman with congenitally missing premolars, narrow palate, severe functional hyperhidrosis of the hands and feet, small hands, and hypoplastic nails. The authors suggested that this may be a new case of Book syndrome. However, the patient lacked premature graying of hair, and had the additional features of disorganized eyebrows, unilateral simian creases, poorly formed dermatoglyphs, and poorly formed bilateral distal digital creases. Salinas et al. (1992) suggested that the lack of other reports of Book syndrome may result from the clinical features being of relatively little consequence to most affected individuals or from symptoms being treated as separate entities by different specialists.

Inheritance

Inheritance of the disorder in the family reported by Book (1950) was clearly autosomal dominant with high penetrance.