Do you know this syndrome? Clouston syndrome.

Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.

Do you know this syndrome? Clouston syndrome

Abstract Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.

Condrossarcoma de nasofaringe: relato de um caso / Nasopharynx chondrosarcoma: case report

Introdução: O condrossarcoma é uma neoplasia maligna do tecido cartilaginoso que representa 20 a 25% de todos os sarcomas ósseos, sendo que apenas 10 a 12% estão situados na região de cabeça e pescoço. Objetivo: Este artigo tem como objetivo relatar um caso raro de condrossarcoma de nasofaringe apresentando boa evolução. Relato de Caso: MLCV, feminino, 70 anos, com dor facial à esquerda e perda de visão de olho esquerdo de início há 3 meses. Anosmia e obstrução nasal esquerda também presentes. Ressonância magnética mostrou lesão expansiva em nasofaringe, com 4cm em seu maior diâmetro, com extensão para seios etmoidais, região posterior das fossas nasais, septo nasal, seio esfenoidal e extensa infiltração do clivus. Biópsia mostrou condrossarcoma GII. Paciente foi submetida à ressecção de tumor da base do crânio via degloving apresentando boa evolução e sendo em seguida submetida à radioterapia. Atualmente segue em acompanhamento há 5 anos, sem sinais de recidiva. Conclusão: O caso em questão ilustra uma localização pouco usual de condrossarcoma cujo tratamento e curabilidade são bastante complexos em função da localização e da exigüidade de margens cirúrgicas. Apesar das dificuldades inerentes a estes aspectos, graças a inclusão do condrossarcoma na gama dos diagnósticos diferenciais e à combinação entre o tratamento cirúrgico e a radioterapia, foi possível obter o controle da doença a longo prazo com menor morbidade ao paciente.

Background: Chondrosarcoma is a malignant tumor of cartilaginous tissue that represents 20-25% of all bone sarcomas. Only 10 to 12% are located in the head and neck. Aim: The aim of this study is to report a rare nasopharynx chondrosarcoma case with positive outcome. Case Report: MLCV, female, 70 years old, complaining about left facial pain and loss of vision in left eye which started 3 months ago. Olfatory loss and left nasal obstruction were also present. MRI showed nasopharynx lesion, with 4cm in its largest diameter, extending to the ethmoid sinus, posterior region of nasal cavity, nasal septum, sphenoid sinus and extensive infiltration of clivus. Biopsy revealed chondrosarcoma GII. The patient underwent tumor resection via degloving presenting good evolution and was then submitted to radiotherapy. The follow up is now 5 years and the patient has no signs of recurrence. Conclusion: This case reports an unusual chondrosarcoma location in which treatment and curability are quite complex depending on the location and the exiguity of surgical margins. Despite the difficulties inherent to these aspects, thanks to the inclusion of chondrosarcoma in the range of differential diagnoses and to the combination of surgery and radiotherapy, it was possible to control the disease in long term with less morbidity to the patient.