Hereditary multiple diaphyseal sclerosis (ribbing).

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In 1949 Ribbing (3) described a peculiar form of diaphyseal sclerosis which he had observed in four of six siblings and which differed in some respects from any lesions previously reported. He was unable to determine the cause or nature of the condition and gave it the name of hereditary multiple diaphyseal sclerosis. We have observed two examples, occurring in brothers, of a type of sclerosis resembling that described by Ribbing. Since this appears to be an unusual form of bone disease or dysplasia we are reporting our cases at this time. The essential finding in this disease consists in a fusiform thickening of a portion of the diaphysis of a long bone. The involved area is extremely dense and the cancellous structure largely or completely obliterated. The lesions have been quite similar in their roentgen appearances, varying only in the length of the involved area and the intensity of the sclerosis. There is a tendency toward symmetrical changes and to multiplicity of bones involved, with the tibia and femur most frequently affected. The ends of the shafts are normal. The general health of the patients has been unimpaired, and other congenital stigmata have been absent (exception, our Case 2). The lesions may exist without symptoms or may cause local pain of a deep boring character. The time of onset of the sclerosis is unknown, but in none of the cases have symptoms begun before puberty. A brief résumé of Ribbing's cases is given below: 1. Father, dead at age 68. No record of any skeletal roentgenograms. 2. Mother, living, age 63. No symptoms of osseous disease. Skeletal roentgen study showed normal findings. 3. Son, born May 7, 1905. No symptoms; skeletal roentgenograms normal. Has three children, all with normal skeletal roentgenograms. 4. Daughter, born Nov. 8, 1906. No symptoms; skeletal roentgenograms normal. Has three children, all normal. 5. Daughter, born April 17, 1914. Beginning in 1940, experienced pain in both legs. The pain in the right leg had shown improvement since 1944 and there had been some improvement in the left. In 1941 roentgenograms showed a 7-cm. area of thickening and sclerosis in the middle of the right tibia. There was some increase in the lesion by the end of 1942 and at this time a similar lesion was observed in the left tibia. In 1948, examination showed a marked eburnation about 20 cm. in length in each tibial shaft. The medullary cavity was practically obliterated and the outline of the bone slightly expanded. Examination of the remainder of the skeleton showed a similar sclerosing lesion in the left femur and another in the distal part of the left radius. The patient has one child, whose skeletal roentgenograms are normal. 6. Son, born April 12, 1918. Suffered an injury to the left leg in 1940 by a blow. This was followed by a week of discomfort and then subsidence of symptoms. Several months later a firm swelling was noticed at the site of the former injury.