[Nodular eyelid margin and lip tumors without MEN2b syndrome in a 29 year old man]. / Lidkanten- und Lippentumoren ohne MEN2b-Syndrom bei einem 29-jährigen Mann.

Neuromas of the eyelid margin and lower lip were diagnosed in a 29-year-old man. As the combination of these lesions is indicative of multiple endocrine neoplasia type 2b (MEN2b) syndrome, the presence of a medullary thyroid carcinoma or a pheochromocytoma were excluded by a systematic work-up. A mutation in the RET proto-oncogene was not found by genetic testing. In summary, the patient presented with neuromas on the eyelid margin and lower lip without an association to a syndrome; however, patients with such neuromas should be screened for MEN2b syndrome due to the high mortality.

Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1.

Dental status and oral hygiene in patients with head and neck cancer.

Poor oral hygiene is believed to play a role as a risk factor for head and neck cancer, especially for oral cancer. Only few epidemiologic data exist about dental status and oral hygiene in these patients. We performed a case-control study involving 100 patients with squamous cell carcinoma of the upper aerodigestive tract and 214 age- and sex-matched control subjects with no known tumorous disease. In the tumor patients, oral hygiene and dental status proved to be significantly worse: the majority of the tumor patients seldom or never brushed their teeth and the frequency of dental visits was significantly lower. Tartar of 3 mm or more was found in 40.9% of the tumor patients and in 22% of the control subjects. In the tumor group, the incidence of decayed teeth was significantly higher compared with the control subjects. Chronic inflammation of the gingiva was observed in 28% of the tumor patients vs. 13.5% in the control group. Oral hygiene was negatively correlated with alcohol as well as with tobacco consumption. The social status of subjects also correlated with oral hygiene, which was found to be worst in subjects from the lower social strata. The present study revealed a poor dental status and oral hygiene in patients with head and neck cancer. The pathogenetic mechanism being associated with this suspected risk factor remains to be investigated.

[Oral hygiene and dental status in patients with squamous cell cancers of the upper aerodigestive tract]. / Mundhygiene und Zahnstatus bei Patienten mit Plattenepithelkarzinomen des oberen Aerodigestivtrakts.

Dental status and oral hygiene were investigated in a case-control study of 100 patients suffering from head and neck cancer and 214 age- and sex-matched controls. The dental status and paradontal status are poor in cancer patients. The number of decayed or missing teeth was significantly higher in our patients compared with controls. Furthermore, in the tumour group the rate of moderate or severe gingivitis and the presence of extensive tartar were significantly higher. These findings are mainly due to poor oral hygiene. Few of the cancer patients ever brushed their teeth, and the number of dental check-ups was significantly lower than in control subjects. Poor oral hygiene is predominantly an expression of self-neglect due to chronic alcohol consumption, which was present in nearly all of our patients. Furthermore, it seems to be related to an unsatisfactory health education in the lower social strata, to which most of cancer patients belong.