RESUMO
Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.
Assuntos
Pé Torto Equinovaro/genética , RNA Helicases DEAD-box/genética , Fator de Iniciação 4A em Eucariotos/genética , Deformidades Congênitas da Mão/genética , Laringe/fisiopatologia , Deformidades Congênitas dos Membros/genética , Síndrome de Pierre Robin/genética , Adolescente , Adulto , Alelos , Brasil/epidemiologia , Criança , Pé Torto Equinovaro/epidemiologia , Pé Torto Equinovaro/fisiopatologia , Expansão das Repetições de DNA/genética , Inglaterra/epidemiologia , Extremidades/fisiopatologia , Feminino , Genótipo , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Laringe/anormalidades , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Fenótipo , Síndrome de Pierre Robin/epidemiologia , Síndrome de Pierre Robin/fisiopatologia , Mutação Puntual/genética , Adulto JovemRESUMO
Basal cell carcinoma (BCC) is the most frequent type of skin cancer in humans, with cumulative exposure to ultraviolet radiation as an important risk factor for development of illness such as severe solar burns during childhood or adolescence. BCC is mainly located on sun-exposed sites, head and neck being the areas of more incidences; although nose, eyelids and periorbitary tissue are unfavorable due to cosmetic results that BCC involves. Tumors can be classified as nodular, superficial, micronodular, morphea variety, infiltrating, pigmented, metatypic and fibroepithelioma of Pinkus. Several treatment options such as surgical and nonsurgical are available. The goal of treatment is complete excision of the tumor with preservation of surrounding structures in a way aesthetically acceptable. Mohs' micrographic surgery is the standard treatment for all nonmelanoma skin cancers. Orbital exenteration is also used for treatment of malignancies of ocular tissues, mainly squamous cell carcinoma, sebaceous cell carcinoma and BCC. The tissue beneath the surgical site can be left for second-intention granulation or covered with a cutaneous implant of partial thickness. The case of a 77-year-old patient is presented with BCC of inferior eyelid of 14 years' duration, formerly managed with radiotherapy; however, due to recurrent illness and invasion to the maxillary antrum, he needed supraestructure maxillectomy with left orbital exenteration.