Management of Red Teeth in an International Patient with X-Linked Adrenoleukodystrophy.

Childhood cerebral X-linked adrenoleukodystrophy is a progressive, central nervous system, and endocrine disorder that typically leads to total neurologic disability and, eventually, death without appropriate, timely medical therapy. Hematopoietic stem cell transplantation has been found effective in slowing cerebral deterioration and improving long-term survival. The purpose of this case report was to describe the multidisciplinary management of red, discolored, pulpally treated primary molars identified in a nine-year-old Russian boy with childhood cerebral X-linked adrenoleukodystrophy preparing for myeloablative conditioning chemotherapy followed by hematopoietic stem cell transplantation.

Estrogen receptor-alpha polymorphism in patients with and without degenerative disease of the temporomandibular joint.

AIMS: The genetic aspect of degenerative joint disease (DJD) of the temporomandibular joint is poorly understood. The prevalence of the estrogen receptor alpha (ER-alpha) gene polymorphism in patients with and without DJD using xbal and pvull restriction fragment length polymorphisms (RFLPs) was studied. METHODOLOGY: DNA samples from 42 DJD⁺ and 36 DJD⁻ subjects were amplified. A 346-base pair long ER-alpha gene fragment containing the two sites of polymorphism in intron 1 was analyzed for xbal and pvull RFLP. Statistical analysis was carried out using Fisher's exact test and two-group t-test. RESULTS: Five different ER-alpha genotypes were found in both groups. These were PXPX, pxpx, pxPX, PxPX, and pxPx. DISCUSSION: There was a higher number of pxpx and pxPX genotypes in the DJD⁺ samples compared to the DJD⁻ group, which suggests the presence of polymorphism possibly modulates the ER-alpha activity in bone and contributes to the degenerative process in the joint.

A current perspective on Sjögren's syndrome.

Sjögren's syndrome is a common autoimmune disorder characterized by dry mouth and dry eyes. Symptoms and signs are chronic and can be severe. The diagnosis of Sjögren's syndrome can be confusing and time-consuming. The management can also be a significant challenge for the clinicians. However, recent genomic and proteomic developments are unlocking the mystery of the disease process as well as contributing to our ability to define, diagnose, and develop new treatment modalities for patients with this complex disorder.

Cleft lip and palate: association with other congenital malformations.

UNLABELLED: Orofacial clefts are frequently associated with other congenital malformations. Studies vary in incidence and types of anomalies. OBJECTIVE: To evaluate associated malformations in orofacial cleft patients at a major research hospital. STUDY DESIGN: Medical records of 1127 patients, in the Cleft Palate/Craniofacial Clinic, Boys Town National Research Hospital, from January 1980 through February 2000 were reviewed. Patients were divided into two categories: 1) cleft palate only (CP), and 2) cleft lip, with or without cleft palate (CL +/- P). Further categorization included location and type, if any, of other congenital malformations. RESULTS: 47.2% of patients had CP and 52.8% had CL +/- P. 32.2% of all cleft patients had associated congenital malformations. The orofacial region was the most common site, followed by cardiovascular central nervous, and skeletal systems. Congenital malformations were more common in CP (38.7%), than CL +/- P (26.4%). Of malformations diagnosed, 63.1% were chromosomal/syndromic anomalies while 36.9% were non-chromosomal/syndromic. CONCLUSIONS: Recognition of the spectrum of congenital malformations, associated with orofacial clefting, is essential for further diagnostic testing and in some cases genetic counseling.

Oral manifestations of a possible new periodic fever syndrome.

Periodic fever syndrome is composed of a group of disorders that present with recurrent predictable episodes of fever, which may be accompanied by: (1) lymphadenopathy; (2) malaise; (3) gastrointestinal disturbances; (4) arthrolgia; (5) stomatitis; and (6) skin lesions. These signs and symptoms occur in distinct intervals every 4 to 6 weeks and resolve without any residual effect, and the patient remains healthy between attacks. The evaluation must exclude: (1) infections; (2) neoplasms; and (3) autoimmune conditions. The purpose of this paper is to report the case of a 41/2- year-old white female who presented with a history of periodic fevers accompanied by: (1) joint pain; (2) skin lesions; (3) rhinitis; (4) vomiting; (5) diarrhea; and (6) an unusual asymptomatic, marked, fiery red glossitis with features evolving to resemble geographic tongue and then resolving completely between episodes. This may represent the first known reported case in the literature of a periodic fever syndrome presenting with such unusual recurring oral findings.

Differences in initial symptom scores between myogenous TMD patients with high and low temporomandibular opening index.

The temporomandibular opening index (TOI) is a more useful measure of mandibular movement than linear mouth opening, since it is independent of age, gender, ramus length, and gonial angle. It is also useful when categorizing temporomandibular disorder (TMD) patients into diagnostic groups. Two subgroups of myogenous patients have been identified, one with a high and one with a low temporomandibular opening index. This study examined initial symptom severity in these two subgroups. Thirty-three (33) patients with a myogenous temporomandibular disorder were recruited. Twenty-six (26) were female and seven male. Eleven were found to be in the high temporomandibular opening index group and the remaining 22 in the low group. Symptom severity scores were determined prior to the start of treatment. Pain, joint sounds, headache, and neck pain were all rated by patients on a four-point verbal response scale. These symptom scores were compared between the two subgroups using the Wilcoxon two sample test. There appeared to be a significant difference between the two groups (p = 0.0025). TMD patients with high temporomandibular opening index appeared to have more severe signs and symptoms of TMD than patients with a low index.

A retrospective survey of oral lichenoid lesions: revisiting the diagnostic process for oral lichen planus.

OBJECTIVE: We sought to investigate patient demographics and diagnostic trends in biopsies in patients with final diagnoses of oral lichen planus or lichenoid over 4 decades. METHODS: Archived biopsy reports from 248 patients were examined for 1966, 1976, 1986, and 1996. Data were collected for patient age and sex, significant medical and dental history, description of lesion, and clinical and histopathologic diagnoses. RESULTS: Oral lichen planus made up a declining portion of total final diagnoses over the decades. The number of cases with less-than-definitive diagnoses and using modifying terminology (eg, probable, possible, suggestive of) increased. In addition, the age at diagnosis for female patients increased by 1.2 years per decade on average, whereas the age for male patients decreased by 3.5 years per decade on average. CONCLUSIONS: The diagnosis of oral lichen planus appears to have been extended by the use of modifying terminology to include lesions that have less than definitive features. Comprehensive clinical histories and investigations can help limit the inclusion of such lesions.