Neurogenic arthropathy and recurring fractures with subclinical inherited neuropathy.
Some patients with radiologic findings of neurogenic arthropathy or multiple fractures do not exhibit overt neurologic signs. Results of nerve conduction velocity, computer-assisted sensory examination, periosteal nociception, and morphometric and graded teased-fiber evaluation of cutaneous nerves allowed us to recognize a mild neuropathic abnormality. Neurogenic arthropathy and subclinical neuropathy were also found in relatives. In three kinships, the underlying disorder was probably hereditary sensory neuropathy type 1 and in several others, it was recessively inherited sensory neuropathy. These arthropathies were often painful, and overt loss of superficial and deep pain sensation was not a prominent or necessary condition. An interplay of multiple factors including insensitivity, trauma, obesity, activity, abuse, personality, mental subnormality, and metabolic joint and bone disease are probably involved in the development of the bony lesions and thus provide further evidence that environmental factors affect expression of human mutant genes for inherited neuropathy.
D000293:Adolescent; D000328:Adult; D001177:Arthropathy, Neurogenic / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D050723:Fractures, Bone / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009619:Nociceptors / Q000503:physiopathology; D010146:Pain / Q000503:physiopathology; D010521:Periosteum / Q000502:physiology; D012677:Sensation