Syndrome in question

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.

Síndrome de Erasmus: silicose e esclerose sistêmica / Erasmus syndrome: silicosis and systemic sclerosis

A silicose é a pneumoconiose mais frequente, decorrente da inalação de sílica ou de poeiras minerais contendo silicatos, caracterizada principalmente pela fibrose pulmonar de caráter irreversível. Está associada com o desenvolvimento de outras doenças, incluindo tuberculose pulmonar, câncer pulmonar e doenças autoimunes. A doença do tecido conjuntivo posterior à exposição à sílica ocorre geralmente após 15 anos do início da exposição. A síndrome de Erasmus refere-se ao desenvolvimento de esclerose sistêmica em indivíduos previamente expostos à sílica e que apresentavam ou não silicose. Os autores relatam dois casos de pacientes com diagnóstico de silicose que desenvolveram esclerose sistêmica.

The silicosis is the pneumoconiosis more frequent, resulting from the inhalation of silica or silicates containing mineral dust, mainly characterized by irreversible lung fi brosis. It is associated with the development of other diseases, including pulmonary tuberculosis, lung cancer and autoimmune diseases. The connective tissue disease after exposure to silica occurs usually after 15 years of initial exposure.The Erasmus syndrome describes the association of systemic sclerosis following exposure to silica with or without silicosis. The authors report two cases of patients with diagnosis of silicosis who developed systemic sclerosis.