This study will screen patients for eligibility in studies sponsored by the Craniofacial
Genetics Section (HCGS), the Clinical Research Core (CRC), and other branches located within
the National Institute of Dental and Craniofacial Research (NIDCR). It will also evaluate
patients with diseases or abnormalities of the oral cavity or craniofacial complex, or both,
for future protocol development. HCGS and CRC study the natural history of oral diseases and
systemic diseases that are manifested in the maxillofacial region-the upper jaw and face.
Among the diseases are lichen planus, systemic lupus erythematosus, and premalignant oral
leukoplakia. Researchers also study certain acquired diseases and genetic diseases. Because
many of the diseases of the maxillofacial region are poorly defined, the evaluation and
characterization of patients with such diseases are goals of investigation.
Patients of any age, gender, and racial and ethnic group who have oral diseases or systemic
diseases of the upper jaw and face may be eligible for the study. Women of childbearing
potential, or who are pregnant or lactating, may be eligible; they would undergo procedures
and tests or receive medications posing a minimal risk to the fetus or child.
Participants will undergo the following procedures:
- Complete medical history and physical examination, including a thorough examination of
the head and neck; detailed examination of the teeth and gums may or may not be
- Tests of blood, urine, stool; tests for pregnancy and HIV when needed; and tests for
cultures, fungi, bacteria, and parasites.
- Sampling of blood and oral tissues for diagnosis, treatment response, and disease
- Electrocardiogram, x-ray, and imaging procedures, including imaging of the face.
Biopsies may be performed as needed for diagnosis and to guide therapy. The type, number,
location, and frequency of biopsies depend on several factors, including the nature of the
disease being evaluated. Local anesthesia is typically used unless there are
contraindications. Some biopsies are done with disposable, 2 to 3 mm, round, sharp metal
punches. Larger excisions with the use of an appropriate blade may be necessary for proper
evaluation of a patient's condition or complete removal of something that is abnormal. The
risks and discomfort associated with any of the interventions include mild pain, bleeding,
and infection; there may be temporary facial paralysis, bruising, and allergic reactions.
Supportive care will be given as needed, according to the patient's diagnosis, treatment,
and clinical information. Disease-related or drug-related complications, or both, will be
managed through collaboration with the patient's referring physician.
The purpose of this clinical research protocol is twofold: 1) to screen patients for
protocol eligibility for those sponsored primarily by the Craniofacial Genetics Section, the
Clinical Research Core and other Branches located within the National Institute of Dental
and Craniofacial Research (NIDCR) as appropriate and 2) to evaluate patients with diseases
or abnormalities of the oral cavity and/or craniofacial complex for future protocol
development. Patients enrolled in this protocol will be evaluated and treated according to
standard procedures and therapeutic modalities. No procedures will be done for research
only. Standard or experimental biochemical, genetic and proteomic tests may be conducted on
tissue or blood samples collected for diagnosis. Eligible patients will be referred to
appropriate NIDCR clinical research protocols for further protocol-driven diagnostic workup
- INCLUSION CRITERIA:
Patients of any age, gender, and racial/ethnic group with oral diseases or systemic
diseases with maxillofacial manifestations that are mission relevant for the Craniofacial
Genetics Section, the Clinical Research Core and other branches located within the NIDCR.
Women of childbearing potential, or who are pregnant or lactating will only undergo tests
and procedures, and/or receive medications for which data exists proving minimal risk to
the fetus and/or child. Only diagnosis without radiographs will be performed.
Patients with significant cognitive impairment.
Pregnant patients or lactating patients, if this status precludes proposed diagnostic
procedures or therapies because of known untoward effects on mother and/or child.