The clinical presentation is consistent with Paget's Disease. These patients are at increased risk of hearing loss, Paget's sarcoma, frontal bossing, and cranial nerve palsies. Plexiform-type neurofibromas are associated with neurofibromatosis, but have not been found to be associated with Paget's disease.
Paget's disease is a condition of abnormal bone remodeling where original osseous tissue is reconstructed through active interplay between excessive bone resorption and abnormal new bone formation. Increased osteoclastic bone resorption is the primary cellular abnormality. The cause is largely unknown, although it is thought to be related to a viral illness. Fifteen to forty percent follow an autosomal dominant inheritance.
Schneider et al. report that while most common symptom is pain in the affected bone, other manifestations are common, and include neurologic, hearing, vision, cardiac, and oncologic complications. They report that the diagnosis is primarily made by radiographs and bisphosphonates are the most common treatment.
Dimitriadis et al. looked at the pathophysiology of hearing loss in patients with Paget's disease. They hypothesize that sensorineural hearing loss in patients with Paget's disease of the temporal bone may, in some cases, be attributed to obliteration of Cotugno's canal by remodeling pagetoid bone, thus obstructing the venous drainage of the cochlea, with a subsequent effect on the function of stria vascularis and spiral ligament.
Figure A shows a lateral skull xray demonstrating many of the changes of Paget’s disease, with areas of lysis, areas of sclerosis (‘cotton-wool spots’), and calvarial thickening.
Figure B shows an AP of the pelvis with remodeled cortices and coarsened trabeculae consistent with Paget's disease.
Figure C shows characteristic histology that includes irregular broad trabeculae with disorganized cement lines, numerous large osteoclastics with multiple nuclei per cell, and fibrous vascular tissue.
Answer 1: Hearing loss is a common complication of Paget's Disease.
Answer 2: Paget's sarcoma is an unfortunate complication found with Paget's Disease.
Answer 3: Frontal bossing is commonly found with Paget's Disease.
Answer 5: Cranial nerve palsies are commonly found with Paget's Disease.
Schneider D, Hofmann MT, Peterson JA. Diagnosis and treatment of Paget's disease of bone. Am Fam Physician. 2002 May 15;65(10):2069-72. Review. PubMed PMID: 12046775.
PMID:12046775 (Link to Abstract)
Dimitriadis PA, Bamiou DE, Bibas AG. Hearing loss in Paget's disease: a temporal bone histopathology study. Otol Neurotol. 2012 Feb;33(2):142-6. PubMed PMID: 22222574.
PMID:22222574 (Link to Abstract)