3.2.6 Hemangioma

They can be located in any area of the body, but hemangioma more frequently occur on face, scalp, chest or back. Pattern can be focal, multifocal, segmental or indeterminate.

Haemangiomas are superficial (cutaneous), deep (subcutaneous) or mixed (superficial and deep). Other categories are reticular, abortive, and minimal growth.

Childhood haemangiomas may lead to: ulceration (infection, pain), scar with esthetic consequences, bleeding (uncommon), functional disturbances depending on location:

• Eye: amblyopia

• Nose: cartilage deformation

• Lips, mouth: feeding difficulties

• Lower jaw and neck: associated subglottic hemangioma (with possible respiratory obstruction)

• Segmentary facial hemangiomas and perineal/lumbo-sacral hemangiomas may be associated with underlying malformations.

PHACE association/syndrome includes posterior fossa malformations, hemangioma, arterial anomalies, cardiovascular anomalies, eye anomalies, sternal clefting and ⁄ or supra-umbilical raphe.

LUMBAR (SACRAL, PELVIS) association / syndrome includes lower body hemangioma, urogenital anomalies, ulceration, myelopathy, bony deformities, ano-rectal malformations, arterial anomalies, and renal anomalies.

inally, miliary hemangiomatosis is a rare condition which may be associated with visceral hemangiomas and high output cardiac insufficiency.

Diagnosis is, in the vast majority of cases, based on clinical features. In case of diagnostic uncertainty, an ultrasonography could be performed (differential diagnosis: vascular malformations, other tumours). Referral to ENT (ear-nose-throat) specialist should be considered in case of suspicious subglottic hemangioma (lower jaw hemangioma, stridor).

A brain or medullary MRI should be performed in case of suspicious PHACES or PELVIS syndrome, respectively. GLUT-1 staining may be helpful for the diagnosis

Differential diagnoses include numerous entities.

Congenital hemangioma include rapidly involuting congenital hemangioma (RICH), sometimes associated with thrombocytopenia and/or consumptive coagulopathy, non-involuting congenital hemangioma (NICH), and partially involuting congenital hemangioma (PICH). Causal genes are GNAQ/GNA11.

Tufted angioma may also be associated with thrombocytopenia and/or consumptive coagulopathy. Tufted angioma and kaposiform hemangioendothelioma are part of a spectrum. Causal gene is GNA14. Other types of benign vascular tumors are spindle-cell hemangioma (causal genes IDH1/IDH2), epithelioid hemangioma (causal gene FOS), and pyogenic granuloma, also known as lobular capillary hemangioma (causal genes BFAF/RAS/GNA14).

Kasabach-Merritt syndrome is a rare condition characterized by profound and sustained thrombocytopenia, with profound hypofibrinogenemia, consumptive coagulopathy and elevated D-dimers, with a hemorrhagic risk, in association with vascular tumors (especially kaposiform hemangioendothelioma or tufted angioma).

Other rare types of benign vascular tumors are hobnail hemangioma, microvenular hemangioma, anastomosing hemangioma, glomeruloid hemangioma, papillary hemangioma, intravascular papillary endothelial hyperplasia, cutaneous epithelioid angiomatous nodule, acquired elastotic hemangioma, and littoral cell hemangioma of the spleen.

Differential diagnoses also include capillary malformations: nevus simplex/salmon patch, cutaneous and/or mucosal capillary malformations (also known as port-wine stain), including non-syndromic capillary malformations, capillary malformations with central nervous system and/or ocular anomalies (Sturge-Weber syndrome), capillary malformations with bone and/or soft tissue overgrowth and diffuse capillary malformation with overgrowth, reticulate capillary malformation and cutis marmorata telangiectica congenita.

Finally, infantile haemangioma must be differentiated from malignant vascular tumors (angiosarcoma, and epithelioid hemangioendothelioma), and from locally aggressive or borderline vascular tumors (including kaposiform hemangioendothelioma, retiform hemangioendothelioma, papillary intralymphatic angioendothelioma, composite hemangioendothelioma, pseudomyogenic hemangioendothelioma, polymorphous hemangioendothelioma, hemangioendothelioma not otherwise specified, and Kaposi sarcoma).

Kasabach-Merritt syndrome is a rare condition characterized by profound thrombocytopenia, consumptive coagulopathy with a hemorrhagic risk, in association with vascular tumors (especially kaposiform hemangioendothelioma or tufted angioma).

Because of the spontaneous regression, therapy is generally not needed. In severe cases of childhood haemangioma or based on cosmetic demand, systemic (or sometimes topical) propranolol (beta- blocker) is now used as first line treatment.