Capillary malformation

Jump to: navigation, search


For information on vascular anomalies, click here.

For information on vascular malformations, click here.

Vascular Malformation

Home

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.[1]
  • 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.[2]
  • 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.[1]

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.[3]
  • Lesions are usually flat, are not painful and do not regress spontaneously.
  • They may be classified as follows:
  • 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.[4]
  • 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.[5]
  • 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.[6]

For more information about port-wine stain, click here.

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.[7]
  • These are found in capillary malformation-arteriovenous malformation syndrome, an autosomal dominant syndrome associated with mutations in RASA1.[8]

Cutis marmorata telangiectatica congenita (CMTC)

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

Telangiectasia

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

References

  1. 1.0 1.1 Juern AM, Glick ZR, Drolet BA, Frieden IJ (November 2010). "Nevus simplex: a reconsideration of nomenclature, sites of involvement, and disease associations". J. Am. Acad. Dermatol. 63 (5): 805–14. doi:10.1016/j.jaad.2009.08.066. PMID 20728246.
  2. Cohen BA (January 1987). "Hemangiomas in infancy and childhood". Pediatr Ann. 16 (1): 17–26. PMID 3562091.
  3. "Port-Wine Stain - MeSH - NCBI".
  4. Frigerio A, Wright K, Wooderchak-Donahue W, Tan OT, Margraf R, Stevenson DA, Grimmer JF, Bayrak-Toydemir P (2015). "Genetic Variants Associated with Port-Wine Stains". PLoS ONE. 10 (7): e0133158. doi:10.1371/journal.pone.0133158. PMC 4508108. PMID 26192947.
  5. Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA (October 2014). "New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk". Br. J. Dermatol. 171 (4): 861–7. doi:10.1111/bjd.13203. PMC 4284033. PMID 24976116.
  6. Lee JW, Chung HY (FebInvestigationsruary 2018). "Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, , Laser, and Surgical Management". Otolaryngol. Clin. North Am. 51 (1): 197–211. doi:10.1016/j.otc.2017.09.004. PMID 29217063. Check date values in: |date= (help)
  7. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M (July 2008). "Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations". Hum. Mutat. 29 (7): 959–65. doi:10.1002/humu.20746. PMID 18446851.
  8. Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB (April 2010). "A novel association between RASA1 mutations and spinal arteriovenous anomalies". AJNR Am J Neuroradiol. 31 (4): 775–9. doi:10.3174/ajnr.A1907. PMID 20007727.
  9. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A (2000). "Cutis marmorata telangiectatica congenita: clinical findings in 85 patients". Pediatr Dermatol. 17 (2): 100–4. PMID 10792796.
  10. Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042
  11. Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042
  12. Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042
  13. "Cutis marmorata telangiectatica congenita - MeSH - NCBI".
  14. Kienast AK, Hoeger PH (April 2009). "Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria". Clin. Exp. Dermatol. 34 (3): 319–23. doi:10.1111/j.1365-2230.2008.03074.x. PMID 19196300.
  15. Dohil MA, Baugh WP, Eichenfield LF (August 2000). "Vascular and pigmented birthmarks". Pediatr. Clin. North Am. 47 (4): 783–812, v–vi. PMID 10943257.
  16. [+++++https://www.ncbi.nlm.nih.gov/mesh/?term=D013684 "Telangiectasis - MeSH - NCBI"] Check |url= value (help).

Linked-in.jpg