Venous malformation of lower limb with hypertrophy of limb, early terminalization of hair and hyperhidrosis

Introduction Vascular anomalies are the commonest developmental defect. Mulliken and Glowacki in 1982 divided vascular anomalies into two broad groups.1 International society for study of vascular anomalies (ISSVA) accepted this classification in 1996 and later expanded it. Venous malformations (VM) are vascular anomalies involving the veins. Extremities are the commonest site for VM.2 Intraosseous VM are relatively uncommon. Association of VM with cutaneous appendages have been rarely reported. The present study discusses the case of a 15-year-old boy who had VM with intra-osseous extension leading to limb hypertrophy and increased terminal hair and sparing of xerosis at the involved site.


Introduction
Vascular anomalies are the commonest developmental defect. Mulliken and Glowacki in 1982 divided vascular anomalies into two broad groups. 1 International society for study of vascular anomalies (ISSVA) accepted this classification in 1996 and later expanded it. Venous malformations (VM) are vascular anomalies involving the veins. Extremities are the commonest site for VM. 2 Intraosseous VM are relatively uncommon. Association of VM with cutaneous appendages have been rarely reported. The present study discusses the case of a 15-year-old boy who had VM with intra-osseous extension leading to limb hypertrophy and increased terminal hair and sparing of xerosis at the involved site.

Case report
A 15-year-old male child born of non-consanguineous marriage presented to the outpatient clinic of dermatology with pain while walking, bluish discoloration over skin for 6 months and history of progressive enlargement of the left lower limb since birth. There was no history of any ulceration, paraesthesia, trauma, drug intake, fever, shortness of breath or any other systemic complaints prior to increase in size of the lesion. There was history of excision of a growth present over the leg, which was reported as fibroepithelial polyp 6 weeks prior to patient's presentation. There was no history of similar lesion in the family. Physical examination revealed the presence of illdefined bluish plaque of size 7 cms x 4 cms over anterior aspect of left leg (Fig.1a). It was soft and compressible with no palpable thrill or temperature change. Healed excision scar was present. Peripheral pulses were normal. There was no visible dilation of lymphatics, capillary or veins. There was generalized xerosis but area of malformation was spared (Fig. 1a). Terminal hairs were present over this area, while rest of the lower limbs was covered by vellus hair only (Fig. 1a). The difference between the limb girth 5 cms below tibial tuberosity was 2 cms (left more than right, Fig. 1b). There was no limb length discrepancy. X-ray of the left lower limb showed soft tissue hypertrophy as well as cortical tibial thickening (Fig. 2a). MRI imaging revealed tortuous venous channels in left anterolateral aspect of left leg with few vascular channels present in bone and muscle ( Fig. 2b and 2c). Hence, a final diagnosis of VM with extension into muscle and bone was made. Sclerotherapy with ethanol was done. There was no post-sclerotherapy complication. Patient was asked to return for follow-up after 2 months.

Abstract
Vascular anomalies are the commonest developmental disorders. Venous malformations (VM) result due to dysmorphogenesis in the development of veins. Most commonly these disorders are localized to skin and subcutaneous tissue. Deeper venous malformation may affect the underlying muscle, bone and joints. Early terminalization of hair and increased sweating in VM plaque has been rarely reported. The present study deals with the case of a 15-year-old boy who had VM involving skin, subcutaneous tissue and bones with terminal hair and increased sweating over the plaque. Radiological examination showed bone hypertrophy with slow flow channels and phleboliths due to superficial and deep VM. He was treated with ethanol sclerotherapy.
Keywords: Venous malformation, intra-osseous involvement, early terminalization of hair, hyperhidrosis  Muscle involvement leads to pain in morning or muscle contraction. Joint involvement manifests as hemarthrosis. VM of bone can cause chronic pain and discomfort, limb hypertrophy or structural weakening leading to deformities and fractures. Our patient also had tibial involvement and hypertrophy. VM may get congested or thrombosed, leading to pain, hemorrhage or ulceration. Slow flow type of CVM increases the risk of phlebolith formation. Pulmonary embolism is not generally seen, as the thrombosed vessels get sequestrated from normal circulation.
Though most commonly sporadic, occasionally familial and multifocal VMs have been reported. Loss of function mutation on angiopoietin receptor gene TIE2/TEK located on chromosome 9p is thought to be the genetic basis of VM. 6 There is upregulation of several growth factors like tissue growth factor beta (TGF-beta) and basic fibroblast growth factor (beta-FGF). 7 The increase in growth factors could be responsible for terminal hair, fibroepithelial polyp and increased activity of localized sweat gland activity seen in our patient. Progesterone receptors present on vessels in VM result in sensitivity to hormonal changes. 8 Plain radiological examination may show soft tissue and bone hypertrophy. Doppler helps in differentiating low and high flows. VM are often found as heterogenous hypoechoic areas and phlebolith as hyperechoic masses.
Computerized tomography and MRI help in visualizing the extent of VM. Before sclerotherapy, the competence of deep venous system should be assessed. Various invasive studies, e.g., ascending, descending, and percutaneous phlebography, are required for treatment and excluding other vascular tumors.
Conservative management like limb elevation and compression stockings help in decreasing hydrostatic pressure. Intervention is required, if there is recurrent swelling, pain, deformity, interference with physical activity, hemorrhage thromboembolic complication, chronic venous hypertension or sepsis, or VM is aesthetically unacceptable. 9 Either sclerotherapy or excision is performed. Sclerotherapy is done by injecting sclerosant (ethanol and sotradecol) into sequestrated vessels. It is also effective for managing intra-osseous VM. Cutaneous necrosis, hemolysis, peripheral nerve injury, venous thromboembolism, and delayed muscle fibrosis and contractures are the various complications reported. Sclerotherapy is avoided if there is thrombosis or neurological involvement. Sclerotherapy is not recommended for distal lesions. Usually, sclerotherapy is avoided in very young child (<6 years of age), but early intervention is required in lower extremity vascular-bone syndrome. 10