Sandbox:Hannan

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2]

Overview

Vascular Anomalies
Vascular Tumors	Vascular Malformations
Benign Locally aggressive or Borderline Malignant	Simple	Combined°	of major named vessels	associated with other anomalies
	Capillary malformations Lymphatic malformations Venous malformations Arteriovenous malformations* Arteriovenous fistula*	Capillary venous malformation , Capillary lymphatic malformation Lymphatic venous malformation, Capillary lymphatic venous malformation Capillary arteriovenous malformation Capillary lymphatic arteriovenous malformation others	See details	See list

° defined as two or more vascular malformations found in one lesion

* high flow lesions

Classification

Classification of Vascular Malformations

Vascular malformations

Simple

Combined

of major named vessels

asscoiated with other anomalies

Combined vascular malformations* CM + VM Capillary-venous malformation CVM CM + LM Capillary-lymphatic malformation CLM CM + AVM Capillary-arteriovenous malformation CAVM LM + VM Lymphatic-venous malformation LVM CM + LM + VM Capillary-lymphatic-venous malformation CLVM CM + LM + AVM Capillary-lymphatic-arteriovenous malformation CLVM CM + VM + AVM Capillary-venous-arteriovenous malformation CVAVM CM + LM + VM + AVM Capillary-lymphatic-venous-arteriovenous malformation CLVAVM

Anomalies of major named vessels (also known as "channel type" or "truncal" vascular malformations)

Vascular malformations associated with other anomalies Klippel-Trenaunay syndrome CM + VM +/-LM + limb overgrowth Parke's Weber syndrome CM + AVF + limb overgrowth Servelle-Martorell syndrome Limb VM + bone undergrowth Sturge-Weber syndrome Facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth Maffucci syndrome VM +/-spindle-cell hemangioma + enchondroma CLOVES syndrome LM + VM + CM +/-AVM+ lipomatous overgrowth Proteus syndrome CM, VM and/or LM + asymmetrical somatic overgrowth Bannayan-Riley-Ruvalcaba sd lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth Limb CM + congenital non-progressive limb overgrowth Macrocephaly-CM (M-CM / MCAP) Microcephaly-CM (MICCAP)

Capillary malformations

Lymphatic malformations

Venous malformations

Arteriovenous malformations

Arteriovenous fistula

Nevus simplex / salmon patch, “angel kiss”, “stork bite”

Common (cystic) LM Macrocystic LM Microcystic LM Mixed cystic LM

Common VM

Sporadic

Sporadic

Cutaneous and/or mucosal CM (also known as “port-wine” stain) Nonsyndromic CM CM with CNS and/or ocular anomalies (Sturge-Weber syndrome) CM with bone and/or soft tissues overgrowth Diffuse CM with overgrowth (DCMO)

Generalized lymphatic anomaly (GLA) Kaposiform lymphangiomatosis (KLA)

Familial VM cutaneo-mucosal (VMCM)

In HHT

In HHT

Reticulate CM CM of MIC-CAP (microcephaly-capillary malformation) CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)

LM in Gorham-Stout disease

Blue rubber bleb nevus (Bean) syndrome VM

In CM-AVM

In CM-AVM

CM of CM-AVM

Channel type LM

Glomuvenous malformation (GVM)

Others

Others

Cutis marmorata telangiectatica congenita (CMTC)

“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")

Cerebral cavernous malformation (CCM)

Others

Primary lymphedema

Familial intraosseous vascular malformation (VMOS)

Telangiectasia Hereditary hemorrhagic telangiectasia (HHT) Others

Others

Verrucous venous malformation (formerly verrucous hemangioma)

Others

Tables

Anomalies of major named vessels (also known as "channel type" or "truncal" vascular malformations)
Affect lymphatics veins arteries Anomalies of origin course number length diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm) valves communication (AVF) persistence (of embryonal vessel)

Combined vascular malformations*
CM + VM	capillary-venous malformation	CVM
CM + LM	capillary-lymphatic malformation	CLM
CM + AVM	capillary-arteriovenous malformation	CAVM
LM + VM	lymphatic-venous malformation	LVM
CM + LM + VM	capillary-lymphatic-venous malformation	CLVM
CM + LM + AVM	capillary-lymphatic-arteriovenous malformation	CLAVM
CM + VM + AVM	capillary-venous-arteriovenous malformation	CVAVM
CM + LM + VM + AVM	capillary-lymphatic-venous-arteriovenous m.	CLVAVM

Vascular malformations associated with other anomalies
Klippel-Trenaunay syndrome *		CM + VM +/-LM + limb overgrowth
Parkes Weber syndrome		CM + AVF + limb overgrowth
Servelle-Martorell syndrome		limb VM + bone undergrowth
Sturge-Weber syndrome		facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth
Limb CM + congenital non-progressive limb overgrowth
Maffucci syndrome		VM +/-spindle-cell hemangioma + enchondroma
Macrocephaly-CM (M-CM / MCAP) *
Microcephaly-CM (MICCAP)
CLOVES syndrome *		LM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndrome		CM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba sd	lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth

Vascular Tumors

Locally aggressive or borderline vascular tumors

Kaposiform hemangioendothelioma

• Locally Aggressive tumor that originates on skin and occurs primarily in childhood. It is characterized by a single or multiple masses with following characteristics:

     ** Deep reddish-purple color
     ** Shiny, firm texture
     ** Warm to the touch
     ** Swollen and painful

• May be complicated by Kasabach-Merritt phenomenon (KMP), characterized by consumption coagulopathy, thrombocytopenia, and hemolytic anemia. Typical features also include low fibrinogen and elevated D-dimers.
• Somatic activating GNA14 c.614A>T (p.Gln205Leu) mutations have been found in some KHE.
• Invasion of bone, retroperitoneum, and mediastinum has occured in some cases but no case of metastasis has been reported yet.
• Diagnostic work up may include blood tests, biopsy, contrast enhanced ultrasound and MRI or CT scan imaging.
• Treatment Options include steroid, vincristine, interferon alpha, anti-platelet agents, sirolimus-containing therapies and surgery.

Retiform hemangioendothelioma

• First described in 1994 as a form of low grade angiosarcoma, Retiform hemangioendothelioma commonly presents as a slow growing asymptomatic solitary nodule or plaque on distal extremities in 2nd-4th decade of life.
• Must be differentiated from Angiosarcoma.
• High level of local recurrence but very low potential for metastasis.
• Diagnostic work up includes histopathological studies, that shows arborizing blood vessels are arranged in retiform pattern , and MRI.
• Surgery is the treatment of choice, though 2/3rd cases recur. Adjuvant radiotherapy and ddjuvant chemotherapy with recombinant interferon alpha and low dose cisplatin have also been reported in selected cases.

Papillary intralymphatic angioendothelioma (PILA), Dabska tumor

• First described in 1969 by Dabska,this rare vascular neoplasm generally occurs in soft tissues but can also occur in bone. They usually appear as painless inflammatory irregular or nodular lesions below the skin surface.
• The distinctive feature on histopathology is the intravascular growth of well-differentiated endothelial cells presenting as a matchstick columnar configuration.
• They are locally aggressive but rarely metastasize. Locally recurrence after surgery is very common.
• Diagnostic studies may include histopathological studies, fine needle aspiration, MRI and Ct scan.
• Wide local excision is the treatment of choice. However any combination of steroids, chemotherapy, radiation therapy, and invasive procedures are used to treat this tumor.