Medicine:Diffuse capillary malformation with overgrowth

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Diffuse capillary malformation with overgrowth (DCMO) is a subset of capillary malformations (CM) associated with hypertrophy, i.e. increased size of body structures. CM can be considered an umbrella term for various vascular anomalies caused by increased diameter or number of capillary blood vessels. It is commonly referred to as "port-wine stain", and is thought to affect approximately 0.5% of the population.[1] Typically capillaries in the papillary dermis are involved, and this gives rise to pink or violaceous colored lesions.[2] The majority of DCMO lesions are diffuse, reticulated pale-colored stains.[3] DCMO is a unique entity from previously described vascular syndromes including: Klippel–Trenaunay syndrome, macrocephaly-capillary malformation syndrome , cutis marmorata telangiectatica congenita, CLOVES syndrome and Proteus syndrome.[4][5][6][7][8] Careful evaluation must be made to rule out these vascular-complex syndromes from the differential diagnosis, as DCMO is considered a more common and benign condition.

Classification

Limb complex-combined vascular abnormalities have been categorized based on underlying vascular defects, namely slow-flow capillary malformation and fast-flow capillary malformations.[9] Fast-flow vascular malformations consist of arterial malformations, arteriovenous fistulae and arteriovenous malformations. Slow-flow vascular malformations include venous malformations, microcystic and macrocytic lymphatic malformations and capillary malformation. In this classification system, DCMO would fall under the slow-flow vascular malformation.[citation needed]

Signs and symptoms

CM in DCMO is characteristically present at birth or during infancy. Appearance of the CM can be categorized into reticulate or homogenous pattern and pale or dark in color.[2] Reticulate is defined as a non-uniform, mottled stain with indistinct demarcations, and homogenous is a uniform, solid color with distinct borders. Commonly, it affects multiple regions of the body. Lesions are pink or violaceous in color because capillaries in the papillary dermis are involved. Lesions are commonly diffuse, meaning that they extend contiguously greater than 2–3cm beyond a region of involvement. [3] Midline demarcations commonly affect the abdomen, but can also involve the back and buttocks.[10]

There is usually overgrowth of at least one extremity, with possible overgrowth of face and body. Soft tissue and bony overgrowth proportionate to patient growth are the most common associated changes in DCMO.[3] Typically there are no bone abnormalities on imaging. However, leg length discrepancy is observed in approximately half of patient cases. There have been cases of hemihypertrophy, which are associated with diffuse CM appearance. Although rare, there are reports of limb hypotrophy. Syndactyly and macrodactyly are observed in approximately one third of patients. DCMO is not commonly associated with developmental delay. Knowledge of diseases associated with DCMO in the fetus is limited. However, there is a reported case of a fetus with DCMO and a pleural effusion.[11]

Associated condition

Patients with DCMO, just like other vascular malformations, may experience psychosocial distress such as social stigma, low self-esteem, and emotional stress typically beginning in adolescence.[12] Parents of children with vascular malformations may also experience distress due to concerns regarding how their children may be treated by others.[13] Potential psychological benefits from early laser treatment of port-wine stains have been reported in several studies.[14][15] Similarly, early laser treatment should be pursued in DCMO to prevent psychosocial distress that may increase with age and patients and/or parents should be provided with psychosocial support when appropriate.[citation needed]

Etiology

There is a somatic mosaic mutation in sporadic and syndromic capillary malformations in the GNAQ gene. Capillary malformations consist of endothelial cells that have a missense mutation in this gene at p.R183L and p.R183G. GNAQ gene encodes an alpha subunit of heterotrimeric G proteins that activates phospholipase. It is postulated that the underlying etiology in capillary malformations is due to the abnormal interaction between the mutated endothelial cells and non-mutated perivascular cells. Disease severity is thought to correlate with GNAQ mutant allele frequency. This could potentially be used as a prognostication of the disease.[16] GNA11 is a mutation associated with capillary malformations causing overgrowth present on the extremities.[17] Understanding the genetic basis may help establish and further improve current treatment modalities.

Diagnosis

Differential Diagnosis

According to the International Society for Study of Vascular Anomalies (ISSVA), diagnosis and classification of vascular anomalies is made by clinical, radiological, pathological and hemodynamic characteristics.[18] There are various conditions that present as vascular malformation and hypertrophy of soft tissue or bone. These include Klippel–Trenaunay syndrome, macrocephaly-capillary malformation syndrome, cutis marmorata telangiectatica congenita, CLOVES syndrome (congenital lipomatous overgrowth, vascular malformation, epidermal nevus, scoliosis), and Proteus syndrome.[4][5][6][7][8] DCMO is a unique entity, and thus must be differentiated from these syndromes.

Management

An interprofessional approach should be used for the medical management of DCMO patients.[citation needed]

Small CMs are typically benign and require no treatment.[19] Large CMs should be treated due to aesthetic reasons and societal exclusion, as they have a higher tendency to hypertrophy. Pulse-dye laser photocoagulation should be used for large CM. Therapy should be initiated before the age of six months.[20] Laser treatments typically have greater efficacy for CMs on face than non-facial areas such as distal extremities.[21][22][23] Potential explanations for reduced efficacy in extremities include greater lesion size and deeper location of vessels due to thicker epidermis.[24][25] Patients may be less inclined to pursue treatments for non-facial lesions due to lesser visibility and financial burden of multiple laser treatment sessions necessary for visible improvement. As DCMO frequently involves trunk and lower extremities, more studies are needed to improve laser treatment in non-facial areas and identify barriers to treatment.[citation needed]

Surgery is the last resort for non-responding hypertrophied CM. However, redarkening after laser treatment and recurrence of overgrowth after surgical excision are common.

Differences in leg length observed in DCMO can lead to problems with gait, joint pain and scoliosis. An orthopedic consultation should be made for patients with overgrowth involving bone. In Parkes-Weber syndrome, leg discrepancies > 2cm require orthopedic evaluation.[9] Similar recommendations can be assumed for the limb overgrowth in DCMO. Orthodontic evaluation can be made in presence of facial hypertrophy.

DCMO patients do not typically present with lymphatic malformations, therefore MRI studies or lymphangiography are not necessary. MRI is indicated if there is presence of lymphatic vessels, edema, or large veins. Similarly, AVMs are not present with DCMO, thus ultrasound/Doppler or arteriographies are not required. Patients with DCMO have not been reported to have developmental or neurological abnormalities, thus neuroimaging is not necessary. However, head circumference and neurologic development should be serially examined. Presence of neurological abnormality or macrocephaly can suggest macrocephaly-capillary malformation syndrome.

Hemihypertrophy-multiple lipomatosis or Beckwith–Wiedemann syndrome are diseases with total hypertrophy and are associated with an increased risk of Wilms' tumor.[26][27] About 10% of DCMO cases present with total hemihypertrophy.[3] Because of this, screening of Wilms' tumor is recommended in DCMO patients with total hemihypertrophy. However, vascular anomaly and soft tissue hypertrophy in the absence of hemihypertrophy have a low risk of Wilms' tumor.[28]

References

  1. ↑ Colletti G, Valassina D, Bertossi D, et al. Contemporary management of vascular malformations. J Oral Maxillofac Surg. Mar 2014; 72: 510-28
  2. ↑ 2.0 2.1 Happle R. What is a capillary malformation? J Am Acad Dermatol. Dec 2008; 59: 1077-9.
  3. ↑ 3.0 3.1 3.2 3.3 Lee MS, Liang MG, Mulliken JB. Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy. J Am Acad Dermatol. Oct 2013; 69: 589-94
  4. ↑ 4.0 4.1 Moore CA, Toriello HV, Abuelo DN, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. May 2 1997; 70: 67-73.
  5. ↑ 5.0 5.1 Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A. Dec 15 2007; 143A: 3009
  6. ↑ 6.0 6.1 Wright DR, Frieden IJ, Orlow SJ, et al. The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol. Mar 2009; 145: 287-93.
  7. ↑ 7.0 7.1 Cohen MM, Jr. Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet. Feb 2014; 85: 111-9.
  8. ↑ 8.0 8.1 Bloom J, Upton J, 3rd. CLOVES syndrome. J Hand Surg Am. Dec 2013; 38: 2508-12.
  9. ↑ 9.0 9.1 Enjolras O, Chapot R, Merland JJ. Vascular anomalies and the growth of limbs: a review. J Pediatr Orthop B. Nov 2004; 13: 349-57.
  10. ↑ García-Rodrigo CG, Jimenez LM, Martín, RL, et al. Diffuse capillary malformation with overgrowth: a new and unusual case of a recent entity. Journal of Dermatological Case Reports. Dec 31 2014; 8: 118-9.
  11. ↑ Rork JF, Alomari AI, Mulliken JB, et al. Diffuse Capillary Malformation in Association with Fetal Pleural Effusion: Report of Five Patients. Pediatric Dermatology. Jan-Feb 2015; 32(1), 70-75.
  12. ↑ Liu KX, Prajapati VH, Liang MG, Mulliken JB, Lee MS. A cross-sectional survey of long-term outcomes for patients with diffuse capillary malformation with overgrowth. J Am Acad Dermatol. May 2018;78(5):1023-1025.
  13. ↑ van der Horst CM, de Borgie CA, Knopper JL, Bossuyt PM. Psychosocial adjustment of children and adults with port wine stains. Br J Plast Surg. Sep 1997;50(6):463-7.
  14. ↑ Troilius A, Wrangsjö B, Ljunggren B. Potential psychological benefits from early treatment of port-wine stains in children. Br J Dermatol. Jul 1998;139(1):59-65.
  15. ↑ Hansen K, Kreiter CD, Rosenbaum M, Whitaker DC, Arpey CJ. Long-term psychological impact and perceived efficacy of pulsed-dye laser therapy for patients with port-wine stains. Dermatol Surg. Jan 2003;29(1):49-55.
  16. ↑ Couto JA, Huang L, Vivero MP, et al. Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations. Plastic and Reconstructive Surgery. Jan 2016; 137(1).
  17. ↑ Couto JA, Ayturk UM, Konczyk DJ, et al. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. Jan 2017; 20: 303-6.
  18. ↑ Takahashi K, Mulliken JB, Kozakewich HP, et al. Cellular markers that distinguish the phases of hemangioma during infancy and childhood. J Clin Invest. Jun 1994; 93: 2357-64.
  19. ↑ Zheng JW, Zhou Q, Yang XJ, et al. Treatment guideline for hemangiomas and vascular malformations of the head and neck. Head Neck. Aug 2010; 32: 1088-98.
  20. ↑ Chapas AM, Eickhorst K, Geronemus RG. Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers Surg Med. Aug 2007; 39: 563-8.
  21. ↑ Fitzpatrick RE, Lowe NJ, Goldman MP, Borden H, Behr KL, Ruiz-Esparza J. Flashlamp-pumped pulsed dye laser treatment of port-wine stains. J Dermatol Surg Oncol. Nov 1994;20(11):743-8.
  22. ↑ Katugampola GA, Lanigan SW. Five years' experience of treating port wine stains with the flashlamp-pumped pulsed dye laser. Br J Dermatol. Nov 1997;137(5):750-4.
  23. ↑ Lanigan SW. Port wine stains on the lower limb: response to pulsed dye laser therapy. Clin Exp Dermatol. Mar 1996;21(2):88-92.
  24. ↑ Shi W, Wang J, Lin Y, et al. Treatment of port wine stains with pulsed dye laser: a retrospective study of 848 cases in Shandong Province, People's Republic of China. Drug Des Devel Ther. 2014;8:2531-8.
  25. ↑ Yu W, Zhu J, Han Y, et al. Assessment of Outcomes With Pulsed Dye Laser Treatment of Port-Wine Stains Located Proximally vs Distally on Extremities. JAMA Dermatol. 2020;156(6):702-704.
  26. ↑ Hoyme HE, Seaver LH, Jones KL, et al. Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet. Oct 2 1998; 79: 274-8.
  27. ↑ Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet. Aug 15 2005; 137C: 53-71.
  28. ↑ Kundu RV, Frieden IJ. Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation. Pediatr Dermatol. May-Jun 2003; 20: 199-206.



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