Familial jaw cysts in Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease is a relatively benign inherited neurological disorder (Bell, 1935). Clearly affected subjects have slowly progressive weakness and atrophy of certain distal muscle groups; within an affected family others who carry the gene may show only minor or insignificant clinical abnormalities, such as pes cavus, slight weakness of foot dorsi-flexion, or absence of the Achilles tendon reflex. Both the obvious and the minimally symptomatic carriers of the gene have a low peripheral nerve conduction velocity (Dyck, Lambert, and Mulder, 1963), and the ease of confirming the diagnosis by objective electrophysiological measurement of nerve conduction velocity has enabled several investigators to compile and report large pedigrees (Dyck et al., 1963; Myrianthopoulos et al., 1964). Recurrent, multiple jaw cysts are known to occur in family clusters (Thoma and Blumenthal, 1946). They are also a prominent clinical feature of the naevoid basal cell syndrome, in which multiple basal cell carcinomas occur in patients with a variety of skeletal and connective tissue abnormalities, including a distinctive lamellar calcification of the falx cerebri (Pollard and New, 1964). The naevoid basal cell syndrome is transmitted in a Mendelian autosomal dominant pattern (Anderson et al., 1967). We report here a family in which jaw cysts and early lamellar calcification of the falx are associated with Charcot-Marie-Tooth disease.