Vascular Malformations associated With other Anomalies
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
Provisionally unclassified vascular anomalies
Intramuscular hemangioma
Characterized by benign proliferation of vascular channels. Majority of lesions occur in subcutaneousadiposetissues, followed by muscles. Thigh and calf are most common sites of occurrence. Majority of the lesions are asymptomatic. Typical clinical presentation includes chronic pain and swelling that both may increase with exercise of affected muscle due to increased blood flow. Other clinical manifestations may include pulsations, discoloration over the lesion, lesion enlargement when in dependent position, increased temperature, muscle contracture, tenderness, and muscle weakness and fatigue.[1][2][3][4][5][6]
Mibelli’s angiokeratoma (dorsum of toes and fingers)
Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques)
Angiokeratoma corporis diffusum (ACD) (generalized lesions between umbilicus and the knee)
Angiokeratomas are more prevalent among males as compared to females. Increased venous pressure and radiation therapy have been cited as possible causes. Angiokeratomas have been associated with enzyme deficiencies such as alpha-galactosidase A (Fabry disease), α-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartyl glycosaminase (aspartyl glucosaminuria), β-mannosidase (β- mannosidosis), α-N-acetyl galactosaminidase (Kansaki disease), and β-galactosidase (adult onset GM1 gangliosidosis).[10][8][9][11][12]
A variant of cavernous hemangioma characterized histopathologically by presence of dilated thin-walled vascular channels, that vary in size, exhibiting nodular proliferation with sinusoidal arrangement. Pseudopapillary structures may also be present. Clinically majority of the lesions manifest in femaleadults as single, well-defined, painless, subcutaneous nodule with bluish color. Most frequent locations are trunk, extremities and breasts. Painless swelling is the most common patient complaint.[14][15]
Combination of clinical manifestations and histopathological features is used for diagnosis. Surgery (wide excision of tumor) is the treatment of choice if treatment is required.[15][16]
Acral arteriovenous "tumour"
Congenital or acquired lesion manifesting clinically as asymptomatic mass or may present with pulsatile swelling, headache, localized throbbing pain, tinnitus and bleeding. Histopathologically they are characterized by arterio-venous connection without connecting capillary with or without intracranial component. The lesion derived its name from its acral distribution.[17][18]
Vasculardisorder typically manifesting as infiltration of muscles by fibrofatty tissues, atypical venodilation associated with localized pain, and contracture of the affected muscles. Majority of the lesions involve calfmuscles and may present as painful mass, contracture of the extremity, and decreased dorsiflexion at ankle joint. Skin is not typically involved. Histological studies demonstrates fibrous and adipose tissue and congregations of venous channels with abnormal lymphatic component.[23][24]
Somatic activating mutations in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an enzyme functioning in cell growth, proliferation, differentiation, and survival.[25]
↑ 1.01.1Wang CS, Wu PK, Chiou HJ, Chen CF, Chen WM, Liu CL, Chen TH (August 2014). "Nonpalpable intramuscular hemangioma treated with hookwire localization and excision". J Chin Med Assoc. 77 (8): 426–9. doi:10.1016/j.jcma.2014.02.017. PMID25028288.
↑ 2.02.1Doddanna SJ, Dawar G, Rallan NS, Agarwal M (2014). "Intramuscular cavernous hemangioma: a rare entity in the buccinator muscle". Indian J Dent Res. 25 (6): 813–5. doi:10.4103/0970-9290.152211. PMID25728120.
↑ 3.03.1Righini CA, Berta E, Atallah I (February 2014). "Intramuscular cavernous hemangioma arising from the masseter muscle". Eur Ann Otorhinolaryngol Head Neck Dis. 131 (1): 57–9. doi:10.1016/j.anorl.2013.03.003. PMID23845293.
↑Vijay MK, Arava S (2014). "Solitary angiokeratoma of tongue: a rare entity clinically mistaken as a malignant tumor". Indian J Pathol Microbiol. 57 (3): 510–1. doi:10.4103/0377-4929.138810. PMID25118768.
↑ 15.015.115.2Ciurea M, Ciurea R, Popa D, Pârvănescu H, Marinescu D, Vrabete M (2011). "Sinusoidal hemangioma of the arm: case report and review of literature". Rom J Morphol Embryol. 52 (3): 915–8. PMID21892538.
↑ 19.019.119.2Droitcourt C, Boccara O, Fraitag S, Favrais G, Dupuy A, Maruani A (August 2015). "Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus". Pediatrics. 136 (2): e517–22. doi:10.1542/peds.2014-2410. PMID26148948.
↑ 20.020.120.2Zegpi MS, Zavala A, del Puerto C, Cárdenas C, González S (2012). "Newborn with multifocal lymphangioendotheliomatosis with thrombocytopenia". Indian J Dermatol Venereol Leprol. 78 (3): 409. doi:10.4103/0378-6323.95494. PMID22565464.
↑Lanöel A, Torres Huamani AN, Feliú A, Sala MJ, Alvarez M, Cervini AB (July 2016). "Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus". Pediatr Dermatol. 33 (4): e235–9. doi:10.1111/pde.12879. PMID27282436.