Oral-Facial-Digital Syndrome Type 1: Oral Features in 12 Patients Submitted to Clinical and Radiographic Examination

Objective: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP).Design: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated.Results: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined.Conclusions: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.

Serum Vitamins in Adult Patients With Short Bowel Syndrome Receiving Intermittent Parenteral Nutrition

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Myofascial Pain Syndrome as a Contributing Factor in Patients with Chronic Headaches

Objectives: The purpose of this study was to evaluate the prevalence of active and latent trigger points [TrPs], as well as analyze the prevalence of different types of headaches in chronic headache patients. The active and latent TrPs in muscles of orofacial and cervical regions were also evaluated. Methods: There were 290 subjects who participated in this study. Trigger points were identified according to Simons et al.'s diagnostic criteria. Trigger points were considered active if subjects recognized the evoked referred pain as their familiar headache. If the evoked referred pain was not recognized as the familiar headache, the TrPs were considered latent. Differential diagnosis for headache was performed on the basis of International Headache Society criteria. Results: Trigger points could be diagnosed in 77 percent of patients and, in 89 percent of these, active TrPs were found. Muscle tenderness could be observed in 22 percent of patients, and only 1 percent patients were muscle-pain-free. The headache diagnosis showed that 26 percent had tension-type headache, 13 percent had migraine, and 61 percent had combined episodes of tension-type headache and migraine. The highest number of TrPs were found in temporalis [N = 159], masseter [N = 126], and occiptofrontalis [N = 113] muscles. Active TrPs were more frequent in temporalis and occiptofrontalis muscles. Conclusions: Subjects with chronic headaches had a higher prevalence of TrPs, and headache complaints could be reproduced during stimulation of active TrPs that were localized more frequently in temporalis and occiptofrontalis muscles. The presence of TrPs may be a contributing factor in the initiation and/or perpetuation of chronic headaches.

The effects of sildenafil on rectal sensitivity and tone in patients with the irritable bowel syndrome

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Gorlin-Goltz Syndrome and Neoplasms: A Case Study

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms', such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Mild ribs as well as mandibular and maxillar OKC were also diagnosed. Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations and malignant neoplasias.

Management of an Unusual Presentation of Ascher Syndrome

Ascher syndrome is defined by the association between double lip, blepharochalasis, and nontoxic goiter. Because it is a rare disease, it is most often misdiagnosed, despite its implications for quality of life. We report a variation of an incomplete type of Ascher syndrome affecting the upper lip, upper eyelids, and lateral canthi of a young male patient. The surgical management, follow-up, and a brief overview of the syndrome are described. The results presented show an aesthetic and functional improvement of the facial deformities.