RESUMEN
INTRODUCTION: Treacher Collins syndrome is a rare congenital disease characterized by the multiple craniofacial malformations. Although the deformities affecting patients with Treacher Collins syndrome have been well characterized, the effects of these malformations to clinical severity of the syndrome are not well understood. OBJECTIVE: To determine the association of specific Treacher Collins mandibular malformations with clinical severity. DESIGN: A retrospective radiographic observational study. SETTING: Study conducted at a single institution, a quaternary craniofacial care center. PATIENTS: 54 patients with Treacher Collins syndrome. INTERVENTIONS: Computed tomography (CT), clinical photographs and medical history were included in this analysis. Mandibles were isolated from CT data and reconstructed in three dimensions using Mimics software. Cephalometric measurements were performed on CT data. Clinical severity was determined by Teber and Vincent scores. Association of craniofacial dysmorphology to clinical severity was determined by Spearman rank coefficient. MAIN OUTCOME MEASURES: The main results obtained were the measurements of the mandibles and the quantification of the malformations of the evaluated patients. RESULTS: Among the most frequent findings in the sample are hypoplasia of the zygomatic complex, descending palpebral cleft and mandibular hypoplasia. Patients with a lower ramus/corpus ratio had a higher (more severe) Teber and Vincent classification. CONCLUSION: Patients with the most compromised mandible are also the patients with the highest number of malformations, thus, the most severe patients.
RESUMEN
An aged black patient diagnosed as having Virchowian hanseniasis as well as gangliar tuberculosis, after presenting an outbreak of Erythema nodosum in his first year of treatment, is interned with a reaction characterized by diffuse infiltration of cutaneous erythema, intense edema of the hands and feet, and necrotic lesions of the vasculites type in the lower members which later evolve into extenisve necrotic ulcers in the anterior segments of the feet. The patient died in shock. The findings of the autopsy showed a granulomatous tuberculoid reaction spread in neural-cutaneous mucous and visceral areas affected by Virchowian hanseniasis. Especially remarkable is the almost generalized involvement of the veins the affected areas as a result of granulomatous reaction in all levels of the vascular wall. In the extremities there is a clear correlation between these vasculites which affect small veins and arteries and the cutaneous necroses. The explanation given for these findings is that during treatment this patient presented a reactional outbreak of the pseudo-exacerbation type or a "reversal reaction" which arbitrarily affected small veins. The hansenic etiology of these vasculites was confirmed by the following facts: 1 The vasculites appeared only in areas usually affected by hanseniasis. 2 There was, concomitantly, an involvement of the adjacent nerve endings by granulomas with the same characteristics. 3 Bacilli were found in granulomas of the vascular wall, in non-affected vascular fragments and in veins untouched by the granulomatous reaction. The hypothesis raised is that the ganglionar tuberculosis may have altered the patient's immuno-allergic state thus favoring a granulomatous reaction having strong tuberculoid characteristics and with a great capability of harming veins and nerves.