Syndromes that cause hemangioma

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syndromes associated with hemangioma

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hemangioma vascular malformation genetic syndromes

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The retrieved results provide some information but don't comprehensively cover all syndromes. I'll supplement with my own knowledge to provide a thorough answer.

Syndromes Associated with Hemangiomas

1. Kasabach-Merritt Syndrome

A consumptive coagulopathy triggered by large/giant cavernous hemangiomas (or more precisely, kaposiform hemangioendotheliomas). Features include:

Thrombocytopenia
Systemic bleeding
Disseminated intravascular coagulation (DIC) The hemangioma acts as a "trap" for platelets and clotting factors.

2. PHACE Syndrome

Posterior fossa malformations, Hemangiomas (large segmental), Arterial anomalies, Cardiac defects, Eye abnormalities. One of the most recognized syndromes involving infantile hemangiomas, especially large facial ones.

3. LUMBAR Syndrome

Lower body hemangiomas, Urogenital anomalies, Myelopathy, Bony deformities, Anorectal malformations, Renal anomalies. Associated with large segmental hemangiomas of the lower body/perineum.

4. Klippel-Trenaunay Syndrome (KTS)

Part of the PIK3CA-Related Overgrowth Spectrum (PROS). Features:

Cutaneous capillary malformations (port-wine stains) and sometimes hemangiomas
Soft tissue and bony hypertrophy
Venous/lymphatic malformations Caused by somatic PIK3CA mutations.

5. Maffucci Syndrome

Multiple enchondromas + hemangiomas (typically spindle-cell hemangiomas)
High risk of malignant transformation (chondrosarcoma, angiosarcoma)
Associated with IDH1/IDH2 mutations

6. von Hippel-Lindau (VHL) Disease

Hemangioblastomas of the cerebellum, retina, and spinal cord
Renal cell carcinoma, pheochromocytoma, pancreatic cysts
Autosomal dominant; VHL tumor suppressor gene mutation

7. Sturge-Weber Syndrome

Facial port-wine stain (capillary malformation/hemangioma) in the V1/V2 trigeminal distribution
Ipsilateral leptomeningeal angiomatosis
Glaucoma, seizures, intellectual disability
Caused by somatic GNAQ mutation

8. Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)

Multiple cutaneous and gastrointestinal venous malformations/hemangiomas
GI bleeding and iron-deficiency anemia are common complications
Associated with TEK (TIE2) mutations

9. Hereditary Hemorrhagic Telangiectasia (HHT / Osler-Weber-Rendu)

Multiple mucocutaneous telangiectasias and visceral AVMs (lung, liver, brain)
Hepatic hemangiomas/vascular malformations may occur
Autosomal dominant; ENG or ACVRL1 mutations

10. CLOVES Syndrome

Part of PROS. Features: Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Skeletal/spinal anomalies. Includes capillary and venous malformations resembling hemangiomas.

11. Beckwith-Wiedemann Syndrome

Macroglossia, macrosomia, omphalocele
Hemangiomas and other vascular birthmarks are a recognized association
Risk of embryonal tumors (Wilms tumor, hepatoblastoma)

12. POEMS Syndrome

Rare plasma cell disorder: Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, Skin changes — hemangiomas (glomeruloid hemangiomas) are a characteristic skin finding.

Summary Table

Syndrome	Hemangioma Type	Key Features
Kasabach-Merritt	Giant cavernous	Thrombocytopenia, DIC
PHACE	Large infantile facial	Posterior fossa + cardiac defects
LUMBAR	Segmental lower body	Urogenital + spinal anomalies
Klippel-Trenaunay (PROS)	Capillary/venous	Limb overgrowth
Maffucci	Spindle-cell	Enchondromas, malignant risk
von Hippel-Lindau	Hemangioblastoma	CNS + renal tumors
Sturge-Weber	Port-wine/capillary	Leptomeningeal angioma, seizures
Blue Rubber Bleb Nevus	Venous/GI	GI bleeding
HHT	Telangiectasias/AVM	Epistaxis, visceral AVMs
CLOVES (PROS)	Capillary/venous	Lipomatous overgrowth
Beckwith-Wiedemann	Cutaneous	Macroglossia, tumor risk
POEMS	Glomeruloid	Neuropathy, M-protein

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