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*
| Anomalies of major named vessels (also known as "channel type" or "truncal" vascular malformations) | Vascular malformations associated with other anomalies
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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.[1] 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.[2] 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.[3]
- Invasion of bone, retroperitoneum, and mediastinum has occured in some cases but no case of metastasis has been reported yet. [4]
- 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.[5]
Retiform hemangioendothelioma
- First described in 1994 as a form of low grade angiosarcoma[6], 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 [7], 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. [8]
Papillary intralymphatic angioendothelioma (PILA), Dabska tumor
- First described in 1969 by Dabska,this rare vascular neoplasm generally occurs in soft tissues.