Gorlin-Goltz syndrome

We report a case of Gorlin-Goltz syndrome in a 21-year-old man. Gorlin-Goltz syndrome [basal cell nevus syndrome] is an infrequent hereditary disease with its prevalence varying from 1 / 57,000 to 1/250,000. It is principally characterized by a wide range of developmental abnormalities. Main clinical manifestations include multiple odontogenic keratocysts of the jaws, facial basal cell carcinomas and skeletal anomalies. The prevalence varies from 1/57,000 to 1/250,000

Focal dermal hypoplasia [Goltz syndrome]

Focal Dermal Hypoplasia [FDH] is a condition of multiple features. It is important to recognize on clinical grounds, as it may show life threatening complications that need to be dealt with by properly timed interventions. A seven year old girl presented with a skin lesion that was present since birth It was distributed on the forehead, chest, upper abdomen, and buttocks .All four limbs were also involved .It consisted of linear areas of thinning of the skin, in which there was herniation of fatty tissue in the form of yellow papules, together with dyspigmentation and telangiectasia. The nails were dystrophic. There was complete syndactyly of the left second and third toes, and partial fusion of the right second and third toes. The teeth were all defective and many were carious. There are between 200-300 cases reported in literature, so it is not a rare condition. They are mostly females, as affected males do not usually survive. Papillomas in different sites may be symptomatic and require surgical intervention. It is a sex linked dominant condition associated with mutation of PORCN gene mapped to locus Xpll.23

Non-syndromic multiple odontogenic keratocysts: report of case / Keratocistos múltiplos não-sindrômicos: relato de caso

Odontogenic keratocysts (OKCs) are epithelial developmental cysts which were first described byPhillipsen in 1956. Lesions are frequently multiple and a component of Nevoid Basal Cell CarcinomaSyndrome (NBCCS) (Gorlin Goltz syndrome/Bifid rib syndrome). We hereby report a case of multipleOKCs in a non – syndromic patient and highlight the general practitioner the importance of diagnosingthe disease and enforcing a strict long-term follow-up whenever such a case is identified.

Os keratocistos odontogênicos são cistos de desenvolvimento que foram descritos primeiramentepor Phillipsen, em 1956. As lesões são frequentemente múltiplas, sendo componentes da síndromedo carcinoma nevoide de células basais (síndrome de Gorlin, síndrome das costelas bífidas).Descreve-se um caso de keratocistos múltiplos em paciente não-sindrômico, enfatizando-se aimportância do clínico geral no diagnóstico da doença e reforçando a necessidade de umapreservação a longo prazo tão logo a doença seja diagnosticada.

Manifestações bucofaciais iniciais em paciente com síndrome do carcinoma nevóide basocelular / Initial facial and oral manifestations in patient with nevoid basal cell carcinoma syndrome

A síndrome do carcinoma nevóide basocelular (SCNB), também conhecida como síndrome de Gorlin-Goltz, representa uma condição autossômica dominante de penetrância completa e expressividade variada, caracterizada por alterações cutâneas, ósseas e dentárias, além de poder afetar o sistema nervoso central e estruturas oculares. O desenvolvimento de múltiplos carcinomas basocelulares em idade precoce, costela bífida ou costelas alargadas, presença de ceratocistos maxilares, sinais palmares e plantares além de calcificações ectópicas da foice cerebral normalmente representam os achados mais freqüentes. O presente trabalho relata o caso de uma jovem paciente portadora da SCNBC discutindo a importância do CD no seu diagnóstico e a necessidade de um acompanhamento multidisciplinar