Capillary malformation

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Vascular Malformation
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Overview
Classification Simple Vascular Malformations Capillary Malformation Lymphatic Malformation Venous Malformation Arteriovenous Malformation Arteriovenous Fistula Combined Vascular Malformations Vascular Malformations of Major Named Vessels Vascular Malformations associated With other Anomalies

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

Overview

Capillary malformations (CM) are simple vascular malformations. Clinically they can exhibit a wide range of manifestations. They may occur as isolated anomalies, combined with other vascular anomalies such as lymphatic malformations and venous malformations, or may occur as manifestations of multi-system syndromes. Their diagnosis and management depends on their clinical manifestations, histopathological behavior, and coexisting anomalies.

Capillary Malformations (CM)

Nevus Simplex

• Also called "salmon patch" , “angel kiss”, “stork bite”, this common anomaly presents as single or multiple blanchable, pink-red patches with poorly defined borders in newborn infants. It may affect up to 60% of new born infants.
• Typically are found at the nape of the neck , on the forehead between the eyebrows or on the eyelids. Although asymptomatic, they often become more noticeable during crying or temperature changes.
• Fades within one to two years, though some lesions can persist on the back of the neck.
• No treatment is needed except when asked by the patient.
• Imaging studies are recommended to evaluate for underlying spinal dysraphism if lumbosacral nevus simplex is present with another lumbosacral abnormality such as dermal sinus or pit, lipoma, patch of hypertrichosis, or deviated gluteal cleft.

Cutaneous and/or mucosal CM (“port-wine” stain)

• "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema." They occur on face for majority of times and may vary from pale pink to deep red or purple, ranging from few millimeters to centimeters in diameter.
• Lesions are usually flat, are not painful and do not regress spontaneously.
• They may be classified as follows:
  • Non-syndromic CM
  • CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
  • CM with bone and/or soft tissues overgrowth
  • Diffuse CM with overgrowth (DCMO)
• Usually occur as sporadic isolated lesions, following the embryonic vasculature of the face.
• Majority of lesions are caused by somatic mutations in GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and its paralogue GNA 11. Somatic activating mutation in GNAQ c.548G>A, p.Arg183Gln has been demonstrated in majority of lesions. A novel GNAQ, c.547C>G, p.Arg183Gly variant has also been found to be associated with some lesions.
• May be associated with other abnormalities including glaucoma, and soft tissue and bone overgrowth and with various syndromes including Sturge-Weber syndrome, Klippel-Trenaunay syndrome, Parkes-Weber syndrome, Servelle-Martorell syndrome, Proteus syndrome, CLOVES syndrome, Bannayan-Riley-Ruvalcaba syndrome, capillary malformation-arteriovenous malformation syndrome, macrocephaly-capillary malformation syndrome, microcephaly-capillary malformation syndrome, Beckwith-Wiedemann syndrome.
• Diagnosis is mainly clinical depending upon history and examination. New born screening for other congenital and genetic anomalies may be indicated including urgent ophthalmology review and a brain MRI.
• The pulsed dye laser (PDL) treatment is considered to be the gold standard. Surgery is considered when port-wine stain (PWS) is associated with bone and soft tissues overgrowth.

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Reticulate CM

• Cutaneous capillary malformations which are reticulated, widespread on body ranging from few to hundreds of oval/circular macules or patches varying in size from few mm to several cm.
• These anomalies are found in two syndromes:
  • CM of MIC-CAP (microcephaly-capillary malformation)
  • CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)

CM of CM-AVM

• Usually multiple, these malformations can be round to oval, can vary from pink-red to tan,and are found in patches of 1 to 2 cm in size. These patches are scattered throughout the body and new ones may continue to appear throughout childhood. Sometimes a high flow murmur can be heard using Doppler device.
• These are found in capillary malformation-arteriovenous malformation syndrome, an autosomal dominant syndrome associated with mutations in RASA1.

Cutis marmorata telangiectatica congenita (CMTC)

• A congenital, vascular malformation consisting of capillary and venous sized vessels. Presentation is similar to physiologic cutis marmorata with a fixed reticulate erythema but unlike physiologic cutis marmorata, the erythema does not resolve with warming and may be associated with skin ulceration, atrophy of the skin, and undergrowth of the involved extremity.
• Findings may include prominent veins, telangiectasias, cutaneous atrophy, ulceration, and hyperkeratosis. May have localized or generalized appearance. In localized pattern, the lesions are confined to one side of the body, not crossing midline with or without sharp demarcation.
• May be associated with a number of other abnormalities, of which limb asymmetry is the most common. Others may include glaucoma, port wine stains, angiokeratomas, hemangiomas. It may also be associated with Sturge-Weber syndrome.
• Most cases tend be sporadic but autosomal recessive pattern has been observed in familial cases.
• Diagnosis is clinical and depends on history and examination. Management depends on the systemic involvement. Skin lesions tend to improve spontaneously.

For more information on cutis marmorata telangiectatica congenita, click here.

Telangiectasia

• "Permanent dilation of preexisting blood vessels creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."

For more information on hereditary hemorrhagic telangiectasia (HHT), click here.