Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.

OBJECTIVE: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age. STUDY DESIGN: Skull lateral teleradiography and cephalometric tracings were performed. The measurements were assessed in the anteroposterior and vertical directions based on protocols by McNamara and Usp/Unicamp and compared to the normal reported ranges. RESULTS: A similar skeletal class III malocclusion was observed in both patients. The jaw was retruded, the anterior skull base decreased, and the mandibular body was normal or larger than normal. The vertical growth direction differed between the patients; one was hyperdivergent, while the other was hypodivergent. CONCLUSIONS: By understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.

Congenital epulis with auto-resolution: case report / Epúlide congênita com auto-resolução: relato de caso

Congenital epulis is an uncommon benign lesion that affects the oral cavity of newborns, and presents histological features which are similar to those of granular cell tumor. The origin of this lesion has not been fully elucidated, and many hypotheses are considered due to the large variety of cell types observed in histological sections. Epulis development occurs further in the prenatal period, and is more common in newborn females, frequently in the maxilla. This lesion usually is presentend as a nodule covered by normal oral mucosa, which in some cases, interferes with baby's breathing and feeding. This report describes the case of a two-month-old male baby who presented a pedunculated intraoral lesion in the mandibular alveolar ridge. Histological sections revealed presence of mucosal fragments with atrophic squamous stratified epithelium, and fibrous connective tissue composed of cells with granular and eosinophilic cytoplasm. A few days after initial exam, the lesion detached from alveolar ridge, and healed spontaneously.

A epúlide congênita é uma lesão benigna rara que acomete a cavidade oral de recém-nascidos e apresenta características histológicas semelhantes às do tumor de células granulares. A origem da lesão ainda não foi completamente elucidada, e as muitas hipóteses a respeito de sua histogênese baseiam-se na grande variedade de tipos celulares observados nos cortes histológicos. A epúlide desenvolve-se ainda no período pré-natal, e é mais comum em recém-nascidos do sexo feminino, ocorrendo com mais freqüência na maxila. Esta lesão costuma apresentar-se como um nódulo coberto por mucosa oral normal que, em alguns casos, interfere na respiração e na alimentação do bebê. Esse artigo descreve o caso de um bebê do gênero masculino, leucoderma, de dois meses de idade, que apresentava lesão intra-oral pediculada com implantação débil na região alveolar da mandíbula. Cortes histológicos revelaram a presença de fragmento de mucosa revestido por epitélio pavimentoso estratificado atrófico, e de tecido conjuntivo fibroso composto de células com citoplasma granular e eosinofílico abundante. Alguns dias após o exame inicial, a lesão desprendeu-se do rebordo alveolar, sofrendo resolução espontânea.

Recurrent Infection by varicella-zoster virus with facial scarring / Infecção recorrente pelo vírus varicela-zoster com sequelas cicatriciais na face

Primary contact with the varicella-zoster virus occurs through varicella (chickenpox) and culminates with this virus entering the sensory nerves and remaining latent in the dorsal root ganglion. Transmission occurs by dissemination of infectious particles of the varicella-zoster virus by the aerosol released from nasopharyngeal secretions or skin lesions, or by direct contact with lesions. Herpes zoster occurs after clinically evident reactivation of the virus, affecting the whole distribution of the infected sensory nerve. When compared with primary infection, herpes zoster has a more severe character, requiring the use of pharmaceutical drugs. The cause of reactivation is unknown and may be associated with predisposing factors, such as age, stress or impaired immune system. This study reports a case of a patient who presented clinical manifestations compatible with varicella zoster infection exacerbated by the use of homemade remedies, resulting in a secondary infection and facial scarring.

O contato primário com o vírus varicela-zoster ocorre na varicela (catapora), culminando com a transposição desse vírus para os nervos sensitivos, onde estabelece sua latência no gânglio espinhal dorsal. A transmissão ocorre por disseminação das partículas infecciosas do vírus varicela-zoster através de aerossóis liberados a partir de secreções do nasofaringe ou lesões cutâneas ou, ainda, pelo contato direto com lesões. O herpes-zoster clinicamente evidente ocorre após a reativação do vírus, com o envolvimento da distribuição do nervo sensitivo afetado. Quando comparado com a infecção primária, o herpes-zoster desenvolve um caráter de maior severidade, sendo sempre necessária a administração de uma terapêutica medicamentosa eficaz. A causa dessa reativação é desconhecida, podendo estar relacionada a fatores predisponentes como a faixa etária, estresse ou imunodeficiências. Neste trabalho relata-se um caso clínico em que a paciente apresentou manifestações clínicas condizentes com um quadro característico de infecção por varicela-zoster, complicado por uso de medicação caseira, resultando em infecção secundária e cicatrizes faciais.

Odontodisplasia regional: relato de caso em maxila com transpasse de linha média / Regional odontodysplasia: case report in maxilla crossing the midline

Odontodisplasia regional é uma afecção rara, não-hereditária, a qual afeta o desenvolvimento do esmalte e dentina na dentição decídua e/ou permanente. A etiologia ainda é desconhecida. Em geral, esta condição é diagnosticada durante exames radiográficos de rotina e muitos casos são diagnosticados erroneamente como dentes malformados ou odontomas. Esta condição afeta duas vezes mais o sexo feminino do que o masculino e envolve com mais frequência à maxila do que a mandíbula. Esta afecção é também mencionada como "dentes fantasmas", uma vez que os dentes afetados, radiograficamente, não apresentam distinção dos limites entre o esmalte e a dentina; e a câmara pulpar se apresenta alargada. Clinicamente os dentes são vistos com uma coloração castanha ou amarelada. O presente trabalho apresenta um caso clínico de odontodisplasia regional, não usual, que cruza a linha média da maxila, em uma criança do sexo feminino de quatro anos de idade. Todos os dentes decíduos e permanentes superiores do lado esquerdo eram displásicos, assim como também os incisivos centrais, decíduo e permanente do lado direito.

Regional odontodysplasia is a rare, nonhereditary condition that affects the development of the enamel and dentin of the deciduous and/or permanent teeth. The etiology is still unknown. In general, this condition is diagnosed during routine radiographic assessments and many cases are mistaken for malformed teeth or odontomas. This condition affects twice as many females as males and is more common in the maxilla than the jaw. This condition is also called "ghost teeth" because the enamel-dentine border of the affected teeth cannot be distinguished in the radiograph and the pulp chambers are wide. Clinically, the teeth are brownish or yellowish. The present study reports an unusual case of maxillary regional odontodysplasia crossing the midline in a 4-year-old female. All deciduous and permanent teeth in the left side of the maxilla and the central incisors in the right side of the maxilla were dysplastic.

Expression of hMSH2 protein of the human DNA mismatch repair system in oral lichen planus.

Lichen planus is a mucocutaneous disease of inflammatory nature and unknown etiology. It is characterized by a cell-mediated immunological response to induced antigenic change in skin and/or mucosa. The possible malignant transformation of lichen planus remains a subject of controversial discussions in the literature. hMSH2 is one of the human DNA mismatch repair (hMMR) genes and it plays an important role in reducing mutation and maintaining genomic stability. hMSH2 alterations have been reported in oral squamous cell carcinoma and there are evidences suggesting the association between oral lichen planus and squamous cell carcinoma. In this study, we aim to investigate the immunolocalization of hMSH2 protein in oral lichen planus compared to oral normal mucosa epithelium. We examined the expression of hMSH2 protein by immunohistochemistry in twenty-six cases of oral lichen planus. Clinically, 12 of them were categorized into reticular subtype and 14 were atrophic/erosive. Ten cases of normal mucosa were added to the control group. Results showed that the percentage of positive cells to hMSH2 was smaller in reticular (46.54%; p=0,006) and atrophic/erosive (48.79%; p=0,028) subtypes of oral lichen planus compared to normal mucosa (61.29%). The reduced expression of hMSH2 protein in oral lichen planus suggests that this lesion is more susceptible to mutation and therefore facilitate the development of oral squamous cell carcinoma.