Journal of Cutaneous and Aesthetic Surgery
Print this page
Email this page
Small font size
Default font size
Increase font size
Home About us Current issue Archives Instructions Submission Subscribe Editorial Board Partners Contact e-Alerts Login 


 
   Table of Contents     
CASE REPORT  
Year : 2016  |  Volume : 9  |  Issue : 4  |  Page : 266-269
Familial disseminated cutaneous glomuvenous malformation: Treatment with polidocanol sclerotherapy


1 Department of Dermatology and STD, VM Medical College and Safdarjung Hospital, New Delhi, India
2 Department of Pathology, Indian Council of Medical Research, Safdarjung Hospital, New Delhi, India

Click here for correspondence address and email

Date of Web Publication29-Dec-2016
 

   Abstract 

Glomuvenous malformations (GVMs) present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10-15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size from 1 to 3 cm, partially to non-compressible and tender on palpation. There was no history of any systemic complaint. His sister and mother had similar lesions but in a limited distribution. Biopsy showed multiple ectatic dilated vascular channels lined by multiple layers of glomus cells consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting. He underwent sclerotherapy with 3% polidocanol every 2 weeks, and there was significant improvement in the lesions after six sessions of sclerotherapy. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months.

Keywords: Disseminated, familial glomuvenous malformation, polidocanol sclerotherapy

How to cite this article:
Jha A, Khunger N, Malarvizhi K, Ramesh V, Singh A. Familial disseminated cutaneous glomuvenous malformation: Treatment with polidocanol sclerotherapy. J Cutan Aesthet Surg 2016;9:266-9

How to cite this URL:
Jha A, Khunger N, Malarvizhi K, Ramesh V, Singh A. Familial disseminated cutaneous glomuvenous malformation: Treatment with polidocanol sclerotherapy. J Cutan Aesthet Surg [serial online] 2016 [cited 2017 Feb 25];9:266-9. Available from: http://www.jcasonline.com/text.asp?2016/9/4/266/197083



   Introduction Top


Glomuvenous malformations (GVMs), also known as glomangiomas, are malformations composed of cells resembling the modified smooth muscle cells of the glomus body, a specialised form of arteriovenous anastomosis involved in thermal and baroregulation. [1] Familial cases are caused by mutations in the glomulin gene. [2] They usually present as pink-to-blue nodules or plaques occurring in childhood and adolescence. Multiple lesions are uncommon, representing <10% of all reported cases. [3] We report here a case of familial disseminated cutaneous GVMs which was treated with polidocanol sclerotherapy.


   Case Report Top


A 26-year-old male presented with complaints of appearance of bluish-to-dusky red-coloured nodules over the body since 12 years of age. The lesions first appeared over the left arm with gradual progression to the trunk, buttocks, lower limbs and back. There was scant bleeding from the lesions on trauma. There was no history of any ocular or central nervous system symptom, melena, hematemesis or epistaxis. On examination, there were a total of 10-15 lesions over the trunk, limbs and buttocks in the form of dusky red-to-bluish firm nodules ranging in size from 1 to 3 cm. They were non-compressible and mildly tender on palpation. There was no associated bruit or thrill. Over the left arm, there were grouped papules forming a plaque [Figure 1]. His sister and mother had similar lesions but in a limited distribution [Figure 2] and [Figure 3].
Figure 1: Multiple bluish-to-skin-coloured papules and nodules over (a) buttock (b) popliteal fossa (c) arm of the index patient

Click here to view
Figure 2: Bluish papules and nodules in the mother over face and buttock

Click here to view
Figure 3: Bluish papules over the face and arm in the sister

Click here to view


Keeping the possibilities of GVM, blue rubber bleb nevus and venous malformation, a skin biopsy was taken from the nodule. Microscopic examination of the biopsy showed acanthosis, papillomatosis and multiple ectatic dilated vascular channels lined by multiple layers of glomus cells [Figure 4]. These histological features were consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. All the other investigations including hemogram, liver function tests, renal function tests, urine routine microscopy, stool for occult blood and coagulation profile were within normal limits. Colour Doppler of the limbs was also normal. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting.
Figure 4: Dilated vascular channels congested with RBCs and lined by multiple layers of glomus cells

Click here to view


He underwent sclerotherapy with 3% polidocanol every 2 weeks. The lesions were injected directly using a 30 gauge needle. Blood was drawn back to ensure intraluminal position of the needle. The lesion was then compressed to evacuate the intravascular blood. The sclerosant was injected slowly. The end-point of each injection was the mild blanching of the lesion. The average volume of sclerosant was 0.5-0.8 ml per lesion. Cotton balls were applied and the area was compressed using a short stretch compression bandage. The patient was then instructed to maintain the compression for 3 days.

He reported significant improvement in the lesions, with 60% flattening of the lesions and 90% reduction in tenderness after six sessions of sclerotherapy [Figure 5]. The side effects included pain during sclerotherapy and immediately after sclerotherapy. One of the lesions showed fibrotic changes after two sessions of sclerotherapy. This was treated with two injections of intralesional triamcinolone 10 mg/ml at an interval of 2 weeks after which there was significant improvement. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months.
Figure 5: Considerable improvement in the lesions after 6 sessions of polidocanol sclerotherapy

Click here to view



   Discussion Top


GVMs can occur as sporadic and inherited lesions, and 64% of these cases in a series were familial. [1] The pattern of inheritance for multiple GVMs is autosomal dominant with incomplete penetrance and variable expressivity involves mutations in the glomulin gene. [2] Multiple GVMs are uncommon and account for <10% of all reported cases. [3] Unlike solid glomus tumours which usually present in young adults with a predilection for subungual sites, GVMs present with multiple lesions, most often seen in children or adolescence. Furthermore, GVMs can occur in a wide anatomic distribution and are not only restricted to the sites known to contain glomus cells. Histologically, GVMs are less well circumscribed (not capsulated) and contain multiple irregular, dilated, endothelium-lined vascular channels that contain red blood cells. The vascular spaces are larger and they appear less cellular than solitary glomus tumor. [4]

Our patient had multiple bluish nodules and pink-to-blue plaques in a disseminated pattern which is a rare pattern of presentation in glomangiomas. [3] They generally present as blue-to-purple partially compressible papules or nodules that are grouped and limited to a specific area, most commonly to an extremity. Other variants are the disseminated type which consists of multiple lesions distributed over the body with no specific grouping and the congenital plaque-like glomus tumors which consist of either grouped papules that coalesce to form indurated plaques or clusters of discrete nodules and is the rarest variant of multiple glomus tumours. In addition, our case was a familial case of GVM with similar lesions in the mother and sister. The prevalence of inherited GVMs varies from 38% to 68% of the cases in various studies and inherited GVMs can present at birth or puberty whereas sporadic GVMs almost invariably diagnosed at birth. [1]

Internal organ involvement with GVM is rare and has been reported to involve the gastrointestinal tract, trachea, nerve, bone, liver, pancreas and ovary. [5],[6],[7],[8] However, there appears no specific association with multiple cutaneous lesions and internal organ involvement. Our patient did not have any systemic complaint; hence, imaging studies for systemic involvement was not done. Malignant transformation (glomangiosarcomas) within glomus tumours is extremely rare and typically represents a locally infiltrative malignancy; however, metastases have been described and are associated with a very poor prognosis. [9] Size larger than 2 cm, rapid growth and deeper soft tissue involvement are the clues to suspect malignant transformation. [9]

The treatment modalities reported for treatment of multiple glomangiomas are surgical resection, sclerotherapy, argon and carbon dioxide laser therapy, electron-beam radiation, etc., Excision may be difficult because of their poor circumscription, multifocal nature and large number of lesions. Hence, excision should be limited to symptomatic lesions only. Periodic observation of asymptomatic lesions is usually required. [10] The prognosis for patients with glomangiomas is excellent, and most patients never experience any related medical problem.

Sclerotherapy involves introduction of a sterile solution into the lumen of a blood vessel or a vascular lesion to induce permanent endofibrosis and ablation of the vessel. Sclerotherapy has been used in treatment of lower limb varicose veins and telangiectasia, facial telangiectasia, pelvic and ovarian varicosities, vascular anomalies, oesophageal varices and haemorrhoids. Agents used in the treatment of glomangiomas and vascular anomalies have included absolute alcohol, hypertonic saline and sodium tetradecyl sulphate (STS). STS and polidocanol have an affinity for the lipid bilayer of the endothelium and unlike osmotic agents produce mural denaturation immediately on contact and hence are preferred agents for sclerotherapy.

We used polidocanol sclerotherapy in our patient with satisfactory results. Studies have shown that sclerotherapy is less effective in GVM than for venous malformations. [11],[12] Parsi and Kossard used STS with concentrations varying from 0.2% to 3% for a patient with multiple familial glomangiomas at 2 weekly intervals with remarkable improvement after an average of two sessions. [13] One other study showed an excellent response of a plaque-like glomangioma with two sessions of 1% STS. [14] Sclerotherapy with STS, polidocanol and hypertonic saline has been reported to be effective in patients with multiple GVMs that are located on the extremities, whereas sclerosants including polidocanol, pure ethanol and Ethibloc ® (a mixture of zein, sodium amidotrizoate tetrahydrate, oleum papaveris and propylene glycol) were unsuccessful in a series of seven patients with large facial GVMs. [15],[16]


   Conclusion Top


We hereby report a rare case of familial disseminated cutaneous GVM which was successfully treated with polidocanol sclerotherapy.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Boon LM, Mulliken JB, Enjolras O, Vikkula M. Glomuvenous malformation (glomangioma) and venous malformation: Distinct clinicopathologic and genetic entities. Arch Dermatol 2004;140:971-6.  Back to cited text no. 1
    
2.
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (glomangiomas). Am J Hum Genet 2002;70:866-74.  Back to cited text no. 2
    
3.
Goodman TF, Abele DC. Multiple glomus tumors. A clinical and electron microscopic study. Arch Dermatol 1971;103:11-23.  Back to cited text no. 3
    
4.
Taaffe A, Barker D, Wyatt EH, Bury HP. Glomus tumours: A clinico-pathological survey. Clin Exp Dermatol 1980;5:219-25.  Back to cited text no. 4
    
5.
Rapini RP. Vascular proliferations and neoplasms. In: Practical Dermatopathology. Philadelphia: Elsevier Mosby; 2005. p. 326-7.  Back to cited text no. 5
    
6.
Kohout E, Stout AP. The glomus tumor in children. Cancer 1961;14:555-66.  Back to cited text no. 6
    
7.
Chou HP, Tiu CM, Chen JD, Chou YH. Glomus tumor in the stomach. Abdom Imaging 2010;35:390-2.  Back to cited text no. 7
    
8.
Filice ME, Lucchi M, Loggini B, Mussi A, Fontanini G. Glomus tumour of the lung: Case report and literature review. Pathologica 2008;100:25-30.  Back to cited text no. 8
    
9.
Folpe AL, Fanburg-Smith JC, Miettinen M, Weiss SW. Atypical and malignant glomus tumors: Analysis of 52 cases, with a proposal for the reclassification of glomus tumors. Am J Surg Pathol 2001;25:1-12.  Back to cited text no. 9
    
10.
Leger M, Patel U, Mandal R, Walters R, Cook K, Haimovic A, et al. Glomangioma. Dermatol Online J 2010;16:11.  Back to cited text no. 10
    
11.
Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D. Extensive pure venous malformations in the upper or lower limb: A review of 27 cases. J Am Acad Dermatol 1997;36 (2 Pt 1):219-25.  Back to cited text no. 11
    
12.
Berenguer B, Burrows PE, Zurakowski D, Mulliken JB. Sclerotherapy of craniofacial venous malformations: Complications and results. Plast Reconstr Surg 1999;104:1-11.  Back to cited text no. 12
    
13.
Parsi K, Kossard S. Multiple hereditary glomangiomas: Successful treatment with sclerotherapy. Australas J Dermatol 2002;43:43-7.  Back to cited text no. 13
    
14.
Lee JB, Na YP, Kim SJ, Lee SC, Won YH. A case of glomangioma treated with sclerotherapy. Korean J Dermatol 2002;40:686-8.  Back to cited text no. 14
    
15.
Parsi K, Kossard S. Multiple hereditary glomangiomas: Successful treatment with sclerotherapy. Australas J Dermatol 2002;43:43.  Back to cited text no. 15
    
16.
Mounayer C, Wassef M, Enjolras O, Boukobza M, Mulliken JB. Facial glomangiomas: Large facial venous malformations with glomus cells. J Am Acad Dermatol 2001;45:239-45.  Back to cited text no. 16
    

Top
Correspondence Address:
Niti Khunger
Department of Dermatology and STD, VM Medical College and Safdarjung Hospital, New Delhi
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2077.197083

Rights and Permissions


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

Top
  
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed237    
    Printed4    
    Emailed0    
    PDF Downloaded13    
    Comments [Add]    

Recommend this journal