Curly Hair-Acral Keratoderma-Caries Syndrome

Clinical Features

Van Steensel et al. (2001) described a 4-generation Dutch kindred with 27 individuals, 14 of whom were affected in a pattern that was consistent with autosomal dominant inheritance. The proposita was evaluated at 35 years of age and presented with unruly, brittle hair with premature hair loss, sparse eyebrows and eyelashes, hypohidrosis, partial loss of teeth due to extensive caries, thickening of the nails and keratoderma of the hands and feet, frontal bossing, and malar hypoplasia. Her general health was good. Other family members were evaluated and all of these features were present in variable degrees in 13 other affected individuals. Scanning electron microscopy revealed several abnormalities, the most prominent of which were a marked variation in diameter and multiple torsions of hair shafts. Many hairs showed longitudinal grooves and an absent cuticle. Cross-sections were oval to triangular. Some hairs showed unusual torsions with grooves, which appeared to run across the torsions. Van Steensel et al. (2001) proposed the name 'curly hair-acral keratoderma-caries syndrome' (CHACS) in view of the most obvious abnormalities.