Camurati-engelmann disease association with hypogonadism and primary hypothyroidism

INTRODUCTION: Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The symptoms usually develop during childhood. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. The epiphysis is strictly spared. The common clinical symptoms are pain of the extremities, muscle wasting, waddling gait, and lethargy. CED is rarely seen in conjunction with hypogonadism. CED-associated hypothyroidism has not been reported yet. Clinical assessment and skeletal survey are important to make the diagnosis.

CASE PRESENTATION: Hereby we reported a case of CED with concomitant hypogonadism and hypothyroidism. Serial plain radiographs of the patient showed classic and progressive diaphyseal cortical hyperostosis of the long bone.

CONCLUSIONS: Hyperostosis of the skull was observed in the present case. The characteristic osseous changes of CED were highlighted and the differential diagnoses were discussed.