A male infant was diagnosed with osteopetrosis shortly after birth, following uncontrolled seizures. He was treated 4 months of age with bone marrow transplantation (BMT). After an uneventful 12-year period, the patient developed epistaxis and bleeding from the ears. He also experienced headache with visual impairment, managed by bilateral orbital decompression. At age 14, the patient developed mandibular osteomyelitis, treated by debridement and antibiotics. Subsequently, reconstruction of the osseous defect was accomplished with a tongue flap. He later experienced relapse and disease progression, indicating the need to undergo a second BMT. Transplantation was delayed until complete resolution of jaw infection. After the second BMT, the patient did well until April 2003, when he developed bacterial meningitis. Osteopetrosis is a group of rare hereditary disorders of variable severity characterized by osteoclast dysfunction, producing diffuse symmetrical increase in skeletal bone density. Infantile osteopetrosis, often referred to as malignant osteopetrosis, is typically diagnosed at birth or shortly thereafter. It is a severe disorder characterized by marrow failure, bone fracture, multiple infections, and compressive events that may lead to proptosis, blindness, deafness, facial paralysis, and seizures. Osteomyelitis is common in infantile osteopetrosis and is attributed to the adverse effects of osteopetrosis on local tissue vascular perfusion. If untreated, infantile osteopetrosis usually results in death by 10 years of age. BMT is the only available effective cure for infantile osteopetrosis, yielding an approximately 40% to 70% survival rate. BMT initially produced favorable results in this patient; however, relapse occurred after a prolonged period of remission, creating the need for a second BMT. The etiology, clinicopathologic features, and treatment methods of osteopetrosis are reviewed.
CONGENITAL CARTILAGINOUS REST OF THE NECK: A CASE REPORT AND REVIEW OF THE LITERATURE. D. Wells, Department of Oral and Maxillofacial Pathology, Naval Postgraduate Dental School, Bethesda, Md. Congenital cartilaginous rest of the neck (CCRN) is a rare developmental anomaly presenting at birth as a firm nodule in the lower anterior neck near the insertions of the sternocleidomastoid muscle. The lesion may be either unilateral or bilateral. Clinically, the condition may appear either as a firm, subcutaneous nodule or as a pedunculated soft tissue mass. CCRN has also been reported under the names elastic cartilage choristoma of the neck, Meckel’s cartilaginous remnant, cervical tab, cervical auricle, and wattle. Microscopically, CCRN is composed of lobules of mature cartilage in a dense, fibrous connective tissue background. Pedunculated CCRN exhibits a stalk of normal skin with a central connective tissue core. The specific type of cartilage has been described by some authors as hyaline and by others as elastic. Skin overlying CCRN is usually described as demonstrating numerous vellus hair follicles. Some authors note the presence of epithelial rests and pacinian corpuscles bordering the cartilage. The present case is that of a 39-year-old man who presented to a dermatology clinic for the removal of a nodule of the lower anterolateral neck, presumed to be a skin tag or nevus. The lesion had been present since birth with no significant change. The treatment for CCRN is largely cosmetic, consisting of simple excision. CCRN is superficial to the platysma, with no attachment to deeper structures. Thus, the lesion is easily dissected from surrounding skin and connective tissue. Malignant transformation has not been reported.
REGIONAL ODONTODYSPLASIA: A REVIEW OF THE LITERATURE AND A REPORT OF 3 CASES. T. Gibson, R. Kelsch, S. Sokoloff, C. Pillar, Long Island Jewish Medical Center, New Hyde Park, NY. Background. Regional odontodysplasia (RO) is a rare condition characterized by distinctive clinical, radiographic, and microscopic find-
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY September 2003 ings. It is presumed to be the result of a developmental disturbance locally affecting odontogenic ectodermal and mesodermal tissues. Objective. The literature was reviewed, and the demographic, clinical, radiographic, and histopathologic features of the patients were analyzed. Three additional cases of RO are described. Methods. A comprehensive search of the Medline database from 1966 through 2002, a review of the reference lists of relevant articles, and an examination of departmental archives from 1990 through 2002 formed the basis of this study. Results. One-hundred-seven reported cases of RO were analyzed. RO more commonly affects females, and a slight predilection for occurrence in the anterior maxilla is noted. Radiographically, affected teeth each demonstrate a thin shell of enamel and dentin surrounding an enlarged pulp chamber, yielding the pathognomonic “ghost teeth” appearance. Histopathologically, abnormal enamel matrix and dentin are identified. Adjacent soft tissue contains scattered islands of odontogenic epithelium and enamel-like calcifications surrounded by whorls of odontogenic mesenchyme. The dental pulp appears unremarkable. Conclusion. The etiology of RO remains unknown. Treatment usually involves the extraction of affected teeth with the fabrication of a dental prosthesis for cosmetic and functional purposes.
NASAL GLIAL HETEROTOPIA: A CLINICOPATHOLOGIC STUDY OF 10 PATIENTS. C. R. Penner and L.D.R. Thompson, Armed Forces Institute of Pathology, Washington, DC. Nasal glial heterotopia, also known as nasal glioma, is a rare developmental anomaly of the nasal cavity occurring in patients over a wide range of ages, with a predilection for presentation at birth or in early childhood. Failure to recognize the entity is the principal difficulty in diagnosis. Ten patients with nasal glial heterotopia diagnosed between 1970 and 2000 were identified in the files of the Armed Forces Institute of Pathology. Microscopic and immunohistochemical features were evaluated, and patient follow-up data were obtained. The patient group consisted of 5 females and 5 males with a mean age at presentation of 8.6 years (range, birth– 44 years of age). Three patients were adults. Most patients presented clinically with a polypoid mass in the nasal cavity, but 2 had a mass on the nasal bridge. Symptoms were present for 2 to 3 months. Anatomic connection to the central nervous system was identified in 1 patient. The masses ranged from 1 cm to 7 cm at the greatest dimension (mean, 2.8 cm). Microscopically, the masses were composed of astrocytes, including gemistocytic forms, and neuroglial fibers mixed with a fibrovascular connective tissue stroma. Neurons and ependymal cells were noted in 2 patients. Focal calcifications and inflammatory cells were occasionally identified. A Masson trichrome stain produced intense blue collagen staining, with the neural population appearing magenta. Immunohistochemical reactivity with glial fibrillary acidic protein and S-100 protein aided in confirming the diagnosis, whereas the presence of type IV collagen and laminin highlighted the reactive fibrosis. All patients were managed with surgery. With the exception of a single fetus included in the study, all patients were alive without complication after a mean follow-up period of 26.8 years. Imaging studies must be performed before surgery to exclude an encephalocele. Complete surgical excision of nasal glial heterotopia is curative.
SCLEROTIC FIBROMA OF THE ORAL MUCOSA. F. Alawi, J. Ghannoum, P. Freedman, University of Pennsylvania, Philadelphia and New York Hospital Medical Center of Queens, Flushing. Sclerotic fibroma (SF) is an uncommon, benign fibrous neoplasm that may present either as a sporadic, small, solitary cutaneous mass in an otherwise healthy individual or as multiple, discrete skin nod-