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CASE REPORT
Year : 2015  |  Volume : 16  |  Issue : 3  |  Page : 165-167

Angiokeratoma circumscriptum in a child of Klippel-Trenaunay syndrome: A rare association


Department of Dermatology, Venereology and Leprosy, BYL Nair charitable Hospital and T. N. Medical College, Mumbai, India

Date of Web Publication10-Jul-2015

Correspondence Address:
Dipti Das
Flat No. 706, E Wing, Trans Residency 1, Subhash Nagar, MIDC, Road-23, Andheri East, Mumbai - 400 093, Maharashtra
India
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Source of Support: Nil., Conflict of Interest: There are no conflicts of interest.


DOI: 10.4103/2319-7250.160671

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  Abstract 


Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterized by capillary malformation, vascular anomalies, and bony and soft tissue hypertrophy. Angiokeratomas are of several types. Angiokeratoma circumscriptum (AC) is a nevoid form which presents as dark red papules and plaques mostly with a verrucous surface. AC is itself very rare. KTS along with AC is even rarer. Here, we present a rare case of KTS with AC on the background of port-wine stain.

Keywords: Angiokeratoma circumscriptum, Klippel-Trenaunay syndrome, malformation, verrucous


How to cite this article:
Das D, Patil P, Tambe SA, Nayak CS. Angiokeratoma circumscriptum in a child of Klippel-Trenaunay syndrome: A rare association. Indian J Paediatr Dermatol 2015;16:165-7

How to cite this URL:
Das D, Patil P, Tambe SA, Nayak CS. Angiokeratoma circumscriptum in a child of Klippel-Trenaunay syndrome: A rare association. Indian J Paediatr Dermatol [serial online] 2015 [cited 2019 Dec 6];16:165-7. Available from: http://www.ijpd.in/text.asp?2015/16/3/165/160671


  Introduction Top


Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterized by capillary malformation, vascular anomalies, and bony and soft tissue hypertrophy. Capillary malformation which is the most common and earliest manifestation is represented by cutaneous hemangiomas or a port-wine stain. Angiokeratomas or lymphatic anomalies may appear superimposed on the capillary malformation.[1] Vascular anomalies present as varicosities. Varicose veins may affect both the superficial and deep venous system. Bone and soft tissue overgrowth leads to hypertrophy of the affected part of the body usually a limb.

Angiokeratomas are of several types. Angiokeratoma circumscriptum (AC) is a nevoid form which presents as dark bluish-red papules and plaques, mostly with a verrucous surface.


  Case report Top


A 2½-year-old boy, born of nonconsanguineous marriage, brought by his parents for evaluation of multiple red raised lesions over the left lower limb since 2 years. There was a history of bleeding from the lesions following minor trauma. After birth, parents noticed a pink-colored patch over the left thigh. The patch increased in size over the years with the growth of the child with progressive deepening of the color to become a bright red patch. Six months after birth, few red raised lesions appeared over the pink patch. Lesions went on increasing in size and number with frequent bleeding. His developmental milestones were normal. There was no significant antenatal and perinatal morbidity or history of trauma prior to the appearance of the lesion. There was no history of seizures. Family history was noncontributory.

Examination revealed a well-marginated bright erythematous patch extending from the left side of the waist up to the upper part of the left leg. Multiple discrete smooth surfaced bluish-red papules and blackish-red verrucous plaques of various sizes were arranged linearly and unilaterally on the background of erythematous patch on the lateral side of left lower extremity [[Figure 1]a]. Few dilated and tortuous veins are seen on the left calf [[Figure 1]b]. There was also mild hypertrophy of the left lower limb. On puncturing one papule, frank blood came out. Mucocutaneous and systemic examination was unremarkable. Neurological and ophthalmological examinations did not reveal any abnormality.
Figure 1: (a) Multiple discrete smooth surfaced bluish-red papules and blackish-red verrucous plaques of various sizes arranged linearly and unilaterally on the background of port-wine stain on the lateral side of left lower extremity. (b) Linear blackish-red verrucous plaques on the background of port-wine stain with varicose veins and mild hypertrophy of left lower extremity

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Blood investigations including complete hemogram and serum biochemistry profiles were within normal limits. Radiological examination of the left lower limb revealed soft tissue swelling without evidence of bony changes. Color Doppler study of the affected limb showed multiple dilated superficial veins in a subcutaneous plane which were seen communicating through deep fascia with dilated veins in the muscular plane. There was no evidence of arteriovenous fistula or deep venous thrombosis.

Skin biopsy from a papule showed compact hyperkeratosis, acanthosis, and elongation of the rete ridges with multiple dilated vascular spaces containing RBCs in the papillary dermis [[Figure 2]a]-[[Figure 2]b].
Figure 2: (a) Multiple dilated thin-walled vascular spaces are present in the papillary dermis (H and E, ×4). (b and c) Epidermis showing hyperkeratosis and acanthosis with elongation of rete ridges. Multiple dilated thin-walled vascular spaces filled with blood are present in the papillary dermis (H and E, ×10). (d) Papillary dermal dilated vascular channel with thinned out endothelium (H and E, ×40)

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Based on these features, a diagnosis of AC in a child of KTS was made. Parents were counseled regarding the persistence of the lesion and advised topical timolol eye drops, thrice daily and CO2 laser therapy. After 2 months of timolol therapy patient presented with decreased erythema of the port-wine stain and decreased bleeding from angiokeratoma lesions [Figure 3].
Figure 3: Decreased erythema of the port-wine stain and decreased bleeding from angiokeratoma lesions posttimolol therapy

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  Discussion Top


Angiokeratoma is a cutaneous vascular disorder characterized by dilated vessels in the upper part of the dermis. Angiokeratomas are mainly of five types: (1) Solitary or multiple angiokeratomas, (2) angiokeratoma of Mibelli, (3) angiokeratoma of Fordyce, (4) angiokeratoma corporis diffusum, and (5) AC. AC is the rarest form among all.[2] It usually presents at birth, though may develop during childhood or adulthood.[3],[4]

Clinically, AC is characterized by bluish-red hyperkeratotic papules and verrucous plaques. Lesions are distributed unilaterally. Common sites of involvement are lower extremity, chest or forearm. Oral cavity and palmar lesions were also reported.[4][5][6]

Histopathology of angiokeratoma shows numerous, dilated, thin-walled, congested capillaries mainly in the papillary dermis underlying an epidermis that shows variable degrees of acanthosis with elongation of the rete ridges and hyperkeratosis.[7]

There are reports of coexistence of AC with other vascular malformations, including angiokeratomas of Fordyce, Cobb syndrome, KTS, nevus flammeus, cavernous hemangioma, and traumatic arteriovenous fistula.[8] Our patient had AC with KTS.

Klippel-Trenaunay syndrome is a rare disease, characterized by classic triad of capillary malformations, varicose veins, and bone or tissue hypertrophy. KTS was first described by two French physicians, Klippel and Trenaunay, in 1900.[9] Patients with Parkes- Weber syndrome More Details have a similar presentation to those with KTS, with additional arteriovenous malformation. Capillary malformations presenting as Port-wine stain or flat hemangioma appear first and usually present at birth. It is often unilateral and segmented. Varicose veins may affect both the superficial and deep venous system. Bone or soft tissue hypertrophy may lead to limb length discrepancy.

Exact etiology of KTS is not known. A primary mesodermal abnormality in fetal development leads to persistence of microscopic arteriovenous communications. Failure of regression of these channels leads to limb hypertrophy, varicosities, nevi and persistence of lateral venous channels leading to KTS.[10]

Differential diagnoses in our case were verrucous hemangioma, lymphangioma circumscriptum, melanoma, and Cobb syndrome. In verrucous hemangioma, there is deeper vascular involvement which distinguishes verrucous hemangioma from AC. Verrucous hemangioma is characterized histologically by dilated capillaries and large, endothelium-lined, blood-filled spaces extending well into the reticular dermis and subcutaneous fat with hyperkeratosis. Histopathology also ruled out lymphangioma circumscriptum and melanoma. Cobb syndrome describes the association of a spinal angioma and a cutaneous angioma such as nevus flammeus or angiokeratoma of the corresponding dermatome.

Angiokeratoma lesions can be treated with electrocoagulation, excision, cryotherapy, or LASER therapy. Treatment of KTS depends upon the severity of involvement. Port-wine stains can be treated with pulsed dye laser therapy. For varicosities compression stockings, sclerotherapy or surgical stripping can be tried. Significant limb length discrepancy may need corrective bone surgery.

Co-existence of AC with KTS is very rare with only few cases reported.[11] Hence, here we report a rare case of KTS with AC on the background of port-wine stain.

 
  References Top

1.
Enjolras O. Vascular malformations. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. 3rd ed. Philadelphia: Mosby Elsevier; 2009. p. 1717.  Back to cited text no. 1
    
2.
Ozdemir R, Karaaslan O, Tiftikcioglu YO, Kocer U. Angiokeratoma circumscriptum. Dermatol Surg 2004;30:1364-6.  Back to cited text no. 2
    
3.
Talwar S, Suresh MS, Jha PK. Angiokeratoma circumscriptum: Some unusual features. Indian J Dermatol Venereol Leprol 1992;58:120-1.  Back to cited text no. 3
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4.
Jindal SR, Chalvade P, Jerajani HR. Late onset palmar angiokeratoma circumscriptum: An unusual presentation. Indian Dermatol Online J 2014;5:320-2.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
5.
Kang YH, Byun JH, Park BW. Angiokeratoma circumscriptum of the buccal mucosa: A case report and literature review. J Korean Assoc Oral Maxillofac Surg 2014;40:240-5.  Back to cited text no. 5
    
6.
Vijaikumar M, Thappa DM, Karthikeyan K, Jayanthi S. Angiokeratoma circumscriptum of the tongue. Pediatr Dermatol 2003;20:180-2.  Back to cited text no. 6
    
7.
Calonje E. Vascular tumors. In: Elder DE, Elenitsas R, Johnson BL, Jr, Murphy GF, Xu X, editors. Lever’s Histopathology of Skin. 10th ed. Philadelphia: Lippincott Williams and Wilkins; 2009. p. 1011.  Back to cited text no. 7
    
8.
del Pozo J, Fonseca E. Angiokeratoma circumscriptum naeviforme: Successful treatment with carbon-dioxide laser vaporization. Dermatol Surg 2005;31:232-6.  Back to cited text no. 8
    
9.
Huiras EE, Barnes CJ, Eichenfield LF, Pelech AN, Drolet BA. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics 2005;116:e596-600.  Back to cited text no. 9
    
10.
Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg 1985;202:624-7.  Back to cited text no. 10
    
11.
Somasundaram V, Premalatha S, Rao NR, Razack EM, Zahra A. Hemangiectatic hypertrophy with angiokeratoma circumscriptum. Int J Dermatol 1988;27:45-6.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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