Association of solitary, segmental hemangiomas of the skin with visceral hemangiomatosis

Background: Multiple hemangiomas of the skin have traditionally been recognized as a clue to potential visceral hemangiomas. Recently, hemangiomas have been recognized to have subcategories, localized and segmental, which correlate with risk of complications. While less common, segmental hemangiomas of the skin have a higher risk of being life- or function-threatening and/or having associated structural anomalies such as those that occur in PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) syndrome (PHACES, if sternal clefting/supraumbilical raphe is included). However, the potential association of solitary, segmental hemangiomas of the skin with visceral hemangiomatosis has not been previously emphasized. Observations: A total of 47 cases of segmental hemangiomas of the skin in association with visceral hemangiomatosis were found. The location of the cutaneous hemangiomas most commonly, but not exclusively, involved the face (37 cases [79%]). The most common site of internal organ involvement was the liver (20 cases [43%]), followed by the gastrointestinal tract (16 [34%]), brain (16 [34%]), mediastinum (9 [19%]), and lung (7 [15%]). The percentages of reported cases of hemangiomas of the pancreas, spleen, bones, or kidneys were 6% or less. Forty percent of patients met criteria for the diagnosis of PHACE(S) syndrome. In this subgroup, internal organ hemangiomas were most commonly found in the brain or mediastinum (18 cases [53%]). Overall, 12 patients (25%) died during infancy, most commonly because of gastrointestinal involvement or congestive heart failure secondary to liver involvement. Conclusion: Segmental hemangiomas of the skin have an associated risk of visceral hemangiomatosis, with the potential of causing vital organ compromise.