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Findings: AP and lateral view of the right hand demonstrate loss of cortex and length of the distal phalanx of the second finger consistent with erosion of bone as can be seen with osteomyelitis. Irregularity of the cortex of the tip of the first distal phalanx is also seen so that osteomyelitis within this region or the effects of trauma cannot be ruled out.

AP view of the foot was also obtained and demonstrate sclerosis and irregularity of the bony margins at the distal aspect of the first metatarsal bone. In addition there is medial subluxation of the distal aspect of the first metatarsal with respect to the first proximal phalanx. These findings are most likely due to remote injury.

Differential Diagnosis: Findings in the hand demonstrate acroosteolysis. This may either be familial or acquired. The familial form of acroosteolysis is also known as Hajdu-Cheney syndrome or acquired acroosteolysis causes of which are burns, frostbite, electric shock, exposure to polyvinyl chloride, syringomyelia, diabetes, congenital insensitivity to pain, leprosy, Raynaud's disease, collagen vascular diseases, sarcoidosis, hyperparathyroidism, Lesch-Nyhan syndrome.

Diagnosis: Congenital Insensitivity to Pain

Discussion: Congenital insensitivity to pain. Synonyms of which are: congenital indifference to pain, congenital analgesia, congenital general pure analgesia. The mode of inheritance is said to be autosomal recessive. The clinical manifestations are absence or marked diminution of the sense of pain, touch perception not affected. In addition, patients may present with ulcers of the lips and tongue due to biting. In addition one may see early loss of teeth. Patients present with infection of the fingers, toes, and mandible. Some individuals present with multiple bruises and neglected fractures.

The radiologic manifestations are microfractures and macrofractures, epiphyseal separation. In addition, osteomyelitis as delineated above of the mandible, fingers and toes in particular. One may see aseptic necrosis in the juxta- articular regions of the weight-bearing bones, namely the hips, knees and ankles. Subperiosteal hemorrhage in infancy and degenerative changes and loose bodies in the joints in older cases may be present. Neuropathic joints and recurrent dislocations of the hip may also be present.

References:
Dahnert, Wolfgang: Radiology Review Manual.
Williams and Wilkins, 1993, Pg 4.

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