Hemangiomas y malformaciones vasculares cutáneas y patología asociada. Un nuevo síndrome neurocutáneo

Pascual-Castroviejo, I; López-Gutiérrez, J.C.; Pascual, Pascual; S, Rafia; Alarcón-Palacio, J.

doi:10.1157/13045242

Cited by 2 publications

(3 citation statements)

References 51 publications

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“…In 1996, Frieden et al [3] proposed the acronym PHACE syndrome after adding the eye abnormalities to fully describe the major features of this neurocutaneous syndrome in the English literature [3,5]. As with our patient, there is also a marked female predilection seen in this syndrome [7,9,10]. Blei et al [2] also identified a number of kindreds in which clear autosomal dominant segregation of hemangiomas was apparent and this remains a possibility in our patient, as her father had a hemangioma in childhood.…”

Section: Short Communicationsupporting

confidence: 53%

“…The facial hemangioma seen in this syndrome is characteristically large and segmental [5,7,9]. Distribution patterns of the hemangiomata suggest dermatomal involvement in some but not all which are typical of the well-described trigeminal patterns V1, V2, and V3 [5,9,10]. Our patient had a typical right V1, V2 and left V1 involvement (Fig.…”

Section: Short Communicationsupporting

confidence: 50%

“…Arterial anomalies of the head and neck also appear to be underreported in the medical literature prior to 2001 [5]. DWM or less severe cerebellar defects are the most frequent nonvascular as well as neurodevelopmental malformations associated with cutaneous vascular anomalies located on the face or anywhere on the trunk or extremities in this syndrome [7,9,10]. They are present in 50 % of patients [7,9].…”

Section: Short Communicationmentioning

confidence: 99%

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Facial Hemangioma, and Associated Malformations: A Case Report

Mohammadi

Mohebbi²,

Holden³

2004

Neuropediatrics

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Facial hemangioma can be isolated lesions or associated with a wide variety of systemic findings. We report a 9-month-old girl who shows an extensive facial hemangioma, intracranial and extracranial vascular malformations, a Dandy-Walker malformation and congenital cardiac malformations. This patient serves as an ample reason why children with similar cutaneous lesions should be carefully evaluated for other associated defects.

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Section: Short Communicationsupporting

confidence: 53%

Section: Short Communicationsupporting

confidence: 50%

Section: Short Communicationmentioning

confidence: 99%

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Facial Hemangioma, and Associated Malformations: A Case Report

Mohammadi

Mohebbi²,

Holden³

2004

Neuropediatrics

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PHACE without Face? Infantile Hemangiomas of the Upper Body Region with Minimal or Absent Facial Hemangiomas and Associated Structural Malformations

Nabatian

Milgraum

Hess

et al. 2011

Pediatric Dermatology

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Infantile hemangiomas can be associated with congenital anomalies such as PHACE syndrome with facial hemangiomas and genitourinary and spinal anomalies in the setting of lower body hemangiomas. We describe five infants in whom segmental hemangiomas involving the upper torso and extremities with absent or small facial hemangiomas were associated with structural anomalies similar to those reported with PHACE syndrome, including three with structural arterial anomalies of the subclavian arteries, three with aortic arch anomalies (right sided or narrowed arch), two with congenital heart disease (atrial septal defect and ventricular septal defect; tetralogy of Fallot), one with a retinal scar, and one with a sternal defect (scar). Two of five had small facial hemangiomas of the lower lip, but none had large segmental hemangiomas of the face. Three of five would have met diagnostic criteria for PHACE but lacked a facial hemangioma of 5 cm in diameter or greater. Patients with segmental arm and thorax hemangiomas may have associated structural abnormalities with overlapping features of PHACE, suggesting that a similar syndrome can occur in this clinical setting.

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Hemangiomas y malformaciones vasculares cutáneas y patología asociada. Un nuevo síndrome neurocutáneo

Cited by 2 publications

References 51 publications

Facial Hemangioma, and Associated Malformations: A Case Report

Facial Hemangioma, and Associated Malformations: A Case Report

PHACE without Face? Infantile Hemangiomas of the Upper Body Region with Minimal or Absent Facial Hemangiomas and Associated Structural Malformations

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