Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval ... Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Manni et al. (1990) described a bone disorder, which they called hyperostosis cranialis interna, in a Dutch kindred. The main radiologic features were intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull; the mandible ... Manni et al. (1990) described a bone disorder, which they called hyperostosis cranialis interna, in a Dutch kindred. The main radiologic features were intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull; the mandible and the skeleton were normal. Recurrent facial palsy was the primary clinical sign, and there was a variable simultaneous impairment of the senses of smell, taste, and vision as well as of cochleovestibular function. In all, 9 individuals in 4 sibships and 3 generations were affected. Serum alkaline phosphatase values were normal in all affected family members. Urinary hydroxyproline levels, measured in 4 affected members, were normal as well. The disorder most closely resembled sclerosteosis (269500) and van Buchem disease (239100) as far as the involvement of the skull is concerned; however, the disorder was clearly different by reason of the absence of involvement of sites other than the skull, by the normal serum alkaline phosphatase, and by the suspected autosomal dominant pattern of inheritance. Waterval et al. (2010) provided follow-up on the Dutch kindred previously reported by Manni et al. (1990). Five males and 9 females were affected. Patients generally became symptomatic in their early second and third decade; facial nerve involvement was the most frequent first symptom, occurring mainly in adolescence, and was followed by sensorineural hearing loss.