Risk, II.

We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis. On physical examination, there were multiple telangiectatic, red macules of variable size surrounded by pale halos on the hands, upper vermillion lip, and face ( Figure 1). These lesions raised concern for HHT and the patient was referred to pediatric dermatology and genetics for further consultation. During examination in our pediatric dermatology clinic, the patient was also found to have blanchable, thumbprint-like lesions with background hyperpigmentation and a pale halo on the chest and legs (Figure 2A). Similar thumbprint-type lesions were observed on the patient's sisters and father.Informed consent and release was obtained from the parents of the patient for photographs included in the manuscript.

No abstract