HJAR Nov/Dec 2021

HEALTHCARE JOURNAL OF ARKANSAS  I  NOV / DEC 2021 45 fantile hemangiomas and other skin de- fects, urogenital anomalies and ulceration, myelopathy, bony deformities, anorectal malformations and arterial anomalies and rectal anomalies). Another rare type of hemangioma is the congenital hemangioma, which is fully formed at birth and no longer grows but can rapidly, partially or not, involute. This type can be large enough to cause cardiac failure due to underlying fast/high blood flow. Other complications of congenital hemangiomas involve ulceration, pain and bleeding. Treatment includes observa- tion, surgical resection, embolization and symptomatic care. VASCULAR MALFORMATIONS Vascular malformations are not recog- nized as tumors but are composed of a net- work of inappropriately connected vessels leading to progressive and often destruc- tive soft-tissue growth. These are defined by the type of blood vessels involved. For example, there are capillary, lymphatic, venous, and arteriovenous malformations that act fundamentally different from the others. The classically known “port wine Joana M. Mack, MD Pediatric Hematologist-Oncologist Arkansas Children’s Hospital stain” is actually a capillary, or venular, malformation of the skin. Although how they arise is still unclear, a number of ge- netic mutations have been discovered in vascular malformations, many of which are the same mutations found in some types of cancer. Other malformations oc- cur in both deep and superficial tissues. These can be treated with surgery, laser, direct injections (sclerotherapy) and now with medicine. Vascular malformations, specifically those with an overgrowth syndrome like Klippel-Trenaunay Syndrome, Proteus Syndrome, and CLOVES have been found to have common activating genetic mu- tations in PIK3CA/AKT/mTOR pathway. This pathway drives cellular growth and angiogenesis (blood vessel formation). These patients can have a different clinical phenotype from one another due to when the somatic mutation occurs in utero. Complications from vascular malforma- tions can include swelling and pain, clot- ting disturbances, bleeding, disfigurement, decreased mobility, difficulty breathing, heart failure, ulceration, to name a few. and long-term aesthetic consequences may occur during the growth phase. Many years ago, Arkansas Children’s was the first to discover that hemangiomas express the molecular marker GLUT1, suggesting they arise from stem cells from the placenta. Infantile hemangiomas can occur any- where on the body and when they grow may cause several complications de- pending on the anatomic site involved. In 2008, they were serendipitously found to respond to propranolol, a nonselective beta-blocker used to treat cardiovascu- lar conditions. High-risk anatomic sites, including the airway, eyes, nasal tip and genitourinary tract, will most likely re- quire systemic treatment with proprano- lol. Treatment options for other problem- atic infantile hemangiomas include laser therapy, surgical resection, intralesional steroids and propranolol. Complex, large hemangiomas in high-risk locations like the face and lumbosacral can be associ- ated with disorders like PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aor- ta and cardiac defects, eye abnormalities) and LUMBAR (lower body congenital in- “A vascular birthmark can be something as simple as a stork’s bite (skin blush of the nape of the neck) to something extremely complex like a vascular malformation associated with limb overgrowth and a syndrome.”