AJR:173, December 1999.
Rossi Santiago E., Erasmus Jeremy J., McAdams H. Page, Donnelly Lane F.
Neurofibromatosis-I (von Recklinghausen’s disease) is the most common of the phakamatoses, or neurocutaneous disorders, occuring with an incidence of 1:2000 to 1:3000 [1]. It is inherited as an autosomal dominant disorder involving chromosome 17, although 50% of cases are due to spontaneous mutation [2]. Clinically, neurofibromatosis-I is recognized by the presence of numerous "café au lait" spots or cutaneous neurofibromas, and affected patients commonly have manifestations related to the thorax. Knowledge of the full spectrum of these manifestations is important to facilitate diagnosis and treatment for these patients. In this pictorial essay, we review the cutaneous, skeletal, pulmonary, and neurogenic manifestations of neurofibromatosis-I in the thorax.