Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.

We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocamptodactyly. This patient had facial asymmetry, ptosis and downslanting palpebral fissures and multiple joint involvement, with bilateral hip dysplasia, reduced elbow supination, vertical tali and talipes in addition to the classical findings of trismus and pseudocamptodactyly. These findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.

Information about infantile hemangiomas on the Internet: how accurate is it?

OBJECTIVES: We sought to measure the type, content, and quality of World Wide Web sites retrieved when conducting an Internet search for infantile hemangiomas. METHODS: Fifty World Wide Web sites from a Google search for "hemangioma" were examined. Relevant sites were characterized, and content was evaluated by 8 pediatric dermatologists. RESULTS: The most accurate subjects were the description of risk factors and natural history, whereas the least accurate areas were photographic representation of the disease and presentation of treatment options. Four sites were considered accurate, and the majority of raters would recommend these sites to parents. LIMITATIONS: Internet sites and search results change. CONCLUSIONS: An Internet search for information about infantile hemangiomas yields few sites that accurately depict the full disease spectrum from innocuous to severe. Online educational resources containing a broader overview of the real disease spectrum of infantile hemangiomas are needed. Such sites should include large numbers of photographs, evidence-based content, and resources for parental support.