María Rosa Cordisco

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BACKGROUND Most infantile hemangiomas (IHs) complete their proliferative growth phase before 9 months of age, but those with unusually prolonged growth create unique clinical challenges. We performed a retrospective case series of IHs with prolonged growth to further characterize these lesions and their treatment. OBSERVATIONS We identified 23 patients as(More)
Blue rubber bleb nevus (BRBN) syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal vascular malformations. The latter may lead to bleeding complications. We followed four affected children for at least 5 years. The evolution of their disease and the value of pharmacologic agents (steroids, interferon) in the management of(More)
BACKGROUND AND PURPOSE CM-AVM is a recently recognized autosomal dominant disorder associated with mutations in RASA1. Arteriovenous lesions have been reported in the brain, limbs, and the face in 18.5% of patients. We report a novel association between RASA1 mutations and spinal arteriovenous anomalies. MATERIALS AND METHODS In a collaborative study, 5(More)
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary(More)
BACKGROUND Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit(More)
BACKGROUND Severe thrombocytopenic coagulopathy may complicate platelet-trapping vascular tumors such as kaposiform hemangioendothelioma and tufted angioma. Low-grade, chronic consumptive coagulopathy may occur with extensive venous and lymphatic malformations. We have also observed patients with rare multifocal, congenital skin and gastrointestinal (GI)(More)
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of(More)
BACKGROUND AND PURPOSE PHACE is an acronym for posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals with PHACE have been published, but risk factors for AIS in PHACE have not been clearly defined. The(More)
PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral or midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease(More)
Rapidly involuting congenital haemangioma (RICH) may present with thrombocytopenia, low fibrinogen and elevated fibrin degradation products and D-dimers. Such complications have rarely been reported. We wished to define the clinical characteristics of the thrombocytopenia and coagulopathy associated with RICH, to emphasize the transient nature of this(More)