Are You Confident of the Diagnosis?
What you should be alert for in the history
A rapidly involuting congenital hemangioma (RICH) is fully or near-fully developed at birth, with a preference for the head, neck and lower extremities. There is an equal gender distribution. The hemangioma involutes spontaneously within the first 14-18 months of life.
Characteristics findings on physical examination
A blue-violet mass or plaque that is well circumscribed and erythematous and can have overlying telangiectasias or a surrounding pale rim. Overlying milia or hypertrichosis can also be observed.
Expected results of diagnostic studies
Histopathology will give findings of capillary lobules with thin-walled vessels and hemosiderin deposition. Tests will show negative for glucose transporter protein-1 (GLUT-1) and Lewis Y antigen and positive for Wilms tumor protein-1 (WT-1).
Ultrasound imaging can usually pick up RICH as early as 12 weeks gestation. A homogeneous, lobular mass can be seen. Lesions demonstrate fast-flow vessels early on then a venous flow signal with involution
Magnetic Resonance Imaging (MRI) shows lobulated soft-tissue mass with flow voids and diffuse enhancement with gadolinium.
– Infantile hemangioma – precursor lesion present at birth followed by rapid, postnatal growth; GLUT-1 (+)
– Non-involuting congenital hemangioma – fails to involute within the first 14-18 months of life
Who is at Risk for Developing this Disease?
Risk factors for hemangiomas apply to RICH as well:
Low birth weight
Chorionic villus sampling during pregnancy
Multiple gestations, advanced maternal age
What is the Cause of the Disease?
The etiology is unknown.
Aberrant angiogenesis is driven by local and systemic pro-angiogenic factors such as VEGF and angiopoeitin-2. The mechanism behind spontaneous involution is unclear, but is probably due to variable host factors.
Systemic Implications and Complications
This is the most common complication (10%). The incidence is proportional to the size of the lesion.
This is a mostly secondary complication to ulceration. Bleeding can usually be controlled with firm pressure. Persistent bleeding can be improved with pulsed-dye laser therapy.
A rare but potentially fatal complication. The risk is proportional to the size of the lesion.
Medical management of secondary complications as appropriate. Pulsed-dye laser therapy and topical becaplermin have shown benefit in ulcerated infantile hemangiomas.
High-output cardiomyopathy requires medical management with cardiology consultation early on. Early surgical intervention should be considered.
There is a possible role for systemic angiogenesis inhibitors, but, given RICH’s rarity, clinical trials will be difficult to conduct.
Bevacizumab – antibody against VEGF
Sirolimus – MTOR inhibitor. Since this is a regressing lesion, propranolol might work. Stain lesion for Wilms tumor 1 (WT1) which is positive in hemangiomas but not vascular malformations.
Surgical resection of redundant tissue or persistent vascular tissue can be performed once involution has occurred.
Optimal Therapeutic Approach for this Disease
Watchful waiting for spontaneous involution
Medical management of potential secondary complications
Surgical intervention for removal of redundant tissue or persistent vascular tissue following involution
The patient should be monitored for at least 1 year to allow for possible spontaneous involution. Until that time, management centers mainly around assessing the extent and flow-characteristics of the lesion as well as managing complications (ulceration, bleeding, infection) appropriately.
With large lesions, there is a risk of potentially fatal high-output cardiomyopathy. Medical management with cardiology consultation early on and possible surgical intervention are key.
Once the lesion has involuted, redundant tissue or residual vascular tissue can be removed with surgical intervention.
Unusual Clinical Scenarios to Consider in Patient Management
During the 14-18 months of observation, RICH can present challenges in medical management, including risks for ulceration, bleeding and infection. Clinicians should exert caution in addressing these issues preemptively by discussing them with caregivers and coming up with an action plan.
The risk of potentially fatal high-output cardiomyopathy with large lesions should prompt cautious medical management with cardiology consultation early on if necessary and possible surgical intervention.
What is the Evidence?
Baker, C, Kelly, R, Bolognia, JL, Jorizzo, JL, Rapini, RP. “Other Vascular Disorders”. Dermatology. pp. 1615-25. (An excellent textbook summary with good clinical and pathologic images on a variety of vascular disorders, including RICH.)
Hammill, AM, Wentzel, M, Gupta, A, Nelson, S, Lucky, A, Elluru, R. “Sirolimus for the treatment of complicated vascular anomalies in children”. Pediatr Blood & Cancer. vol. 28. 2011 Mar. (Together with the final reference, this article demonstrates in vivo the efficacy of mTOR inhibition by sirolimus in complicated vascular tumors and argues for further study of sirolimus and other mTOR inhibitors in the treatment of vascular lesions.)
Lawley, P, Cerimele, F, Weiss, S, North, P, Cohen, C, Kozakewich, HPW. “Expression of Wilms tumor 1 gene distinguishes vascular malformations from proliferative endothelial lesions”. Arch Dermatol. vol. 141. 2005. pp. 1297-300. (Our group was able to show that lack of immunohistochemical staining for WT-1 reliably distinguished vascular malformations from other vascular tumors with high specificity.)
Shirazi, F, Cohen, C, Fried, L, Arbiser, JL. “Mammalian target of rapamycin (mTOR) is activated in cutaneous vascular malformation in vivo”. Lymphat Res Biol. vol. 5. 2007. pp. 233-6. (This article argues for mTOR as a reasonable drug target in vascular malformations and suggests a role for mTOR inhibition in a variety of other vascular tumors.)
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