Parkes Weber syndrome presenting as Stewart-Bluefarb acroangiodermatitis

Abstract

Parkes Weber syndrome (PWS) is a rare disorder characterised by arteriovenous (AV) fistula, along with capillary, lymphatic, venous malformations and limb hypertrophy. Stewart-Bluefarb syndrome is a variant of acroangiodermatitis, which is associated with congenital AV malformation/fistulas. It usually begins early in life, unilaterally over lower extremities presenting as violaceous to dusky coloured macules, papules or plaques with tendency to ulcerate. We are reporting a case of AV malformation fulfilling the triad of PWS and presenting with acroangiodermatitis.

Background 

Acroangiodermatitis is a reactive proliferation of pre-existing vasculature in response to chronic circulatory disturbance (venous hypertension, arteriovenous [AV] malformation/fistula [AVM/AVF] or acquired iatrogenic AVF) manifesting with cutaneous lesions. It is also known as pseudo-Kaposi sarcoma (KS) due to its clinical resemblance to KS. Stewart-Bluefarb syndrome (SBS) is a variant of acroangiodermatitis which is specifically associated with AVM which may be congenital or acquired. It was first described by Bluefarb and Adams and later by Stewart in 1967; however, the term SBS was used by Earhart in 1974.^{1 2} Until 2014, there were ~26 reported cases of SBS.³ During puberty, there is enhanced proliferation of vasculature leading to cutaneous and systemic complications if not detected early. Our patient presented with acroangiodermatitis of Stewart and Bluefarb associated with Parkes Weber syndrome (PWS).

Case presentation

A 17-year-old male child presented with painless, bluish coloured, dilated vessels over the left leg and red coloured lesion over the foot since birth which gradually increased in size. His parents also noticed increased girth of the affected limb. At around 14 years of age, he noticed development of dusky-coloured raised lesion over the left lower leg and foot which were slowly progressive and started having pain and ulceration for last 6 months. There was no history of trauma, fever, shortness of breath or any systemic complaints. There was no history of similar lesion in the family. On examination, there were well-defined non-tender, violaceous, compressible, multiple plaques of size 2×2 cm to 10×8 cm over medial aspect of the left lower leg and foot. There were few areas of erosions/fissures and scaling at the level of ankle (figure 1). Around these plaques, there were few capillary haemangiomatous lesions (figure 2). There were visible varicose veins below the knee. Temperature of the affected limb was more as compared with the other side. Peripheral pulses were palpable with bounding femoral pulse and palpable thrill. There was difference between girth of two limbs (right 40.64 cm, left 41.15 cm above [7 cm] knee joint, right 28.45 cm, left 32.25 cm below [7 cm] knee and right 22.8 cm, left 26.7 cm at mid-foot level). There was no evident difference in length of the lower limbs. A clinical diagnosis of Stewart-Bluefarb acroangiodermatitis with AVM was made.

Figure 1.

Multiple violaceous plaques, varicose veins and erosions on the left lower limb.

Figure 2.

Capillary vascular malformations at margins on the left foot.

Investigations

Routine haemogram and chest X-ray were within normal limits. X-ray of the lower limb showed bone erosions of the left tibia. CT angiography on the left lower limb showed dilated and tortuous channels extending from mid-thigh to mid-foot with multiple feeders (figure 3). Different feeding vessels were superficial femoral, popliteal, posterior tibial and anterior tibial artery of the left side. Abnormal tortuous vessels were eroding into the medullary cavity of the upper end of tibia (figure 4). There was early opacification of lower limb venous system, suggestive of AVF (figure 5). Muscle bulk of the left lower limb was increased in comparison with right side. Skin biopsy showed multiple dilated vessels in deep dermis (figure 6). Cardiac consultation was taken. There was no pulmonary or cardiac compromise on chest radiography and echocardiography

Figure 3.

Arteriovenous malformation extending from mid-thigh to mid-foot with multiple feeders on the left lower limb. IRP, inferior right posterior; SLA, superior left anterior.

Figure 4.

Erosion of tibia by arteriovenous malformation.

Figure 5.

CT angiography showing early opacification of left lower limb vasculature. IAL, inferior anterior left; SPR, superior posterior right.

Figure 6.

Histopathology (H&E ×400) showing multiple dilated vessels in lower dermis.

Differential diagnosis

Acroangiodermatitis of Stewart-Bluefarb poses a diagnostic dilemma with KS and Klippel-Trenaunay syndrome (KTS). Histopathology in KS there is a proliferation of neoplastic spindle cells forming clefts and cavernous formations independent of pre-existing vessels with presence of atypical cells while in acroangiodermatitis there is reactive proliferation of pre-existing vessels in the dermis with no atypical cells, spindle cells and slits seen on histopathology. KTS has capillary malformation (slow flow), varicose veins and limb hypertrophy; however, it is differentiated from PWS with absence of characteristic AVF (high flow) which is present in KTS may be insignificant. Lymphatic malformation and lateral venous anomaly are common in KTS, but rare or not found in PWS.⁴ Because of the presence of AVF with capillary malformations and limb hypertrophy along with acroangiodermatitis, a final diagnosis of Stewart-Bluefarb acroangiodermatitis with Parkes Weber was made.

Treatment

We planned embolisation but due to multiple and complex AVMs it was not feasible. Conservative management with compression stockings, rest and topical emollients with clobetasone cream were prescribed for cutaneous changes. To decrease the risk of thromboembolism, the patient was prescribed aspirin and was advised to avoid trauma to prevent infection.

Outcome and follow-up

He was advised for regular follow-up for diagnosing and managing complications. Cutaneous ulceration improved after 1 month of follow-up while the vascular lesions persisted.

Discussion

Congenital vascular malformations (VMs) are structural irregularities of the vasculature which occur due to developmental defects during various stages of embryogenesis. VMs can be simple, combined, of major named vessel or associated with other anomalies.⁴ VMs associated with other anomalies have overgrowth of soft tissue, bones or viscera, very rarely there may be undergrowth. There are various eponymous syndromes (KTS, PWS, Servelle-Martorell syndrome [SMS] and so on) which have been included in this group. SMS has venous malformation associated with limb undergrowth. In contrast to normal vasculature, AVMs are composed of feeding arteries, a nidus (multiple dysplastic vascular channels) and draining veins with no capillary bed. PWS is a rare complex combined capillary venous malformation (CVM) which consists of capillary, venous and lymphatic malformation associated with AVF in the overgrown limb.⁵ Pulsations and thrill though commonly felt in AVF but may be absent in early cases, small shunt size and relatively greater venous hyperplasia.⁶ Other signs of limb hyperaemia like increased temperature, hyperhidrosis and increased bulk may be seen. In KTS, there is limb overgrowth, associated with AVMs (slow flow), capillary and lymphatic malformations.

Acroangiodermatitis was first described by Kopf and Gonzale as a reactive hyperplasia of vasculature due to various aetiologies and can be categorised into subtypes: SBS, accompanying chronic AVM/AVF, Mali type with stasis dermatitis, AV shunts in patients with chronic renal failure or iatrogenic AV shunts in patients on haemodialysis, with paralysed limbs or with amputation stumps.⁷

SBS presents as violaceous papuloplaque or nodular lesions with presence of varicose veins, palpable thrill, bruit on auscultation, raised local temperature, enlargement of the limb along with capillary haemangiomas and other manifestations of AVM. Clinically, SBS is usually unilateral and the histopathological changes are more in the deeper dermis in contrast to acroangiodermatitis of Mali which may be bilateral and histopathological changes are confined to the superficial dermis.⁸

Acroangiodermatitis is graded depending on clinical features. Stage I is quiescent with asymptomatic violaceous macules and plaques. Stage II is presence of expansile lesions with pulsation. Stage III is destructive form with skin changes like ulceration, bleeding and continuous pain, possibly even with necrosis and lytic bone changes. Stage IV is decompensated heart failure.⁹ Our patient was stage III acroangiodermatitis.

Pathogenesis of acroangiodermatitis is poorly understood. The proposed hypothesis is increased venous pressure, proliferation of endothelial cells, AV steal syndrome leading to distal ischaemia, which further leads to local increase in vascular endothelial growth factor and fibroblasts and hence, endothelial proliferation and cutaneous changes.^{3 6} Capillary malformations, also a feature of PWS, are composed of enlarged capillaries which are visible as red spots but are asymptomatic while acroangiodermatitis are abnormally developed AVM which cause cutaneous ischaemia and are expansile.

Complications associated with PWS because of presence of fistula in addition to acroangiodermatitis are more prone to ulceration, secondary infections, torrential bleeding episodes, cosmetic disfigurement osteolytic bone changes, limb ischaemia, heart failure, pulmonary embolism and so on.¹⁰

Diagnosis is done by Doppler ultrasonography of the affected limb, a non-invasive and highly sensitive screening method. Arteriography, with the angiographic hallmark of early venous filling proportional to the extent of AV connections, is the gold standard investigation.^{3 8}

The presence of fistula in PWS needs to be treated as progression of disease occurs while in KTS AVM may not be progressive so needs less aggressive treatment. A definitive treatment of SBS is directed towards obliterating the underlying AVM. This may be achieved by selective embolisation, endovenous ablative techniques, sclerotherapy or surgery.¹¹ Prophylactic and supportive treatment, for example, protection from trauma, rest, compression stockings and prophylactic aspirin to prevent embolism, is required. Regular monitoring for cardiac status helps in diagnosing high-output failure. In our case due to complexity of AVM and the lack of any symptomatic discomfort, these procedures could not be done only prophylactic treatment was advised.

Learning points.

• Parkes Weber is a rare syndrome fast flow arteriovenous malformation (AVM).

• Acroangiodermatitis of Stewart and Bluefarb is a rare manifestation of Parkes Weber syndrome.

• Acroangiodermatitis with AVM increases morbidity and mortality of disease

• Early diagnosis of the condition can suspect and prevent complications like heart failure and amputation.