Curly Hair-Acral Keratoderma-Caries Syndrome

The study conducted by Van Steensel et al. (2001) described a Dutch kindred spanning four generations, consisting of 27 individuals. Among these individuals, 14 displayed symptoms indicative of autosomal dominant inheritance, demonstrating a consistent pattern. The individual under examination was assessed at the age of 35 and exhibited characteristics such as unmanageable and fragile hair, premature hair loss, sparse eyebrows and eyelashes, reduced sweating, partial tooth loss resulting from extensive tooth decay, thickened nails, keratoderma on the hands and feet, protrusion of the forehead, and underdevelopment of the cheekbones. The overall state of her health was satisfactory. Thirteen additional affected individuals underwent evaluation, revealing the presence of these features to varying extents.