RESUMO
We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. © 2017 Wiley Periodicals, Inc.
Assuntos
Substituição de Aminoácidos , Códon , Mutação , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Fenótipo , Proteína Fosfatase 1/genética , Brasil , Criança , Estudos de Associação Genética , Humanos , Masculino , Mutação de Sentido IncorretoRESUMO
Erlotinib is a selective epidermal growth factor receptor inhibitor utilized in the treatment of solid tumors. Cutaneous side effects, including changes in hair texture and alopecia, have been described. In this case report, we describe two patients with a new finding of loose anagen hairs and pili torti leading to nonscarring marginal and diffuse alopecia and discuss potential mechanisms underlying erlotinib-induced hair changes.