Hamartoma involving the pseudarthrosis site in patients with neurofibromatosis type 1.

Congenital pseudarthrosis is a rare disease with variable clinical effects. The disease remains 1 of the most controversial pediatric entities in terms of etiopathogenesis, therapy, and prognosis. Between 0.5% and 2.2% of patients with neurofibromatosis demonstrate pseudarthrosis in any of the long bones. The exact origin of the lesion is even unclear; although several attempts have been made to determine the type of tissue involving the pseudarthrosis site, only fibrous tissue has been documented in different reports. We present 2 unrelated Mexican patients (male and female) with familial neurofibromatosis and congenital pseudarthrosis of the tibia and fibula. Histochemical and immunostain studies after surgical resection of the affected ends from the pseudarthrosis site of both patients showed a picture compatible with hamartoma. This is the first time when histologic evidence of hamartomatous tissue involving the pseudarthrosis site is presented.

Melorheostosis: unusual presentation in a girl.

Melorheostosis is a rare bone disease of unknown etiology. It is characterized by tense and erythematous skin, contractures and shortening of the affected limbs. Radiographs reveal hyperostosis in long bones resembling melting wax, and spotty or patchy endostic deposits in short bones. An 11-year-old girl showed, since birth, contractural deformities in the right hand without bone abnormalities. At the age of 12 months, she complained of soft tissue tightness in the right buttock. At 3 years, limitation of flexion and extension of the right knee was evident. Radiographs revealed findings typical of melorheostosis.