Multiple extradigital glomus tumors of the ankle and foot with limb hypoplasia in a child: a case report

INTRODUCTION

A glomus body is a neuromyoarterial body found within the reticular dermis that function as a specialized form of arteriovenous anastomosis, which regulates blood flow to the skin.¹ Glomus tumors are neoplasms of the normal glomus body. They are rare tumors, although glomus tumors may occur throughout the body, up to 75% occur in the hand with 50–65% of these occurring in the fingertips and/ or subungual location.^2,3 Besides hand, there are rare cases of extradigital glomus tumors reported in the wrist, forearm, elbow, arm, shoulder, buttock, thigh, knee, leg, ankle, foot, back, nose, cheek, ear lobe and trachea by Schiefer et al in their case series over 20 years duration.¹ They also found out that extradigital glomus tumors were most commonly diagnosed between the fourth and seventh decades of life, slightly later in comparison to previous studies of lesions limited to the hand that showed a peak incidence in the third to fifth decades.^1,4 Literature review on extradigital glomus tumor among pediatric population found only one case report of extradigital glomus tumor of the ankle in a 15 months toddler.⁵ Multiple glomus tumors are extremely rare, representing only 10% of all cases of glomus tumors.⁶ We hereby described a rare case of multiple extradigital glomus tumors of the ankle and foot in a 11 year old girl with hypoplasia of the affected limb.

CASE REPORT

A 11 year old girl presented with swellings over her right ankle and foot for the past 5 years. The parents first noticed the swellings when the patient was 6 years old. The swellings were initially painless but became painful for the past 15 months. The parents brought her for traditional massage prior to seeking medical attention, however her symptoms were not relieved, but the pain was further aggravated following each massage therapy. There was no other significant past medical or surgical history. No one else in her family had similar problem. On examination, patient was a well build girl, her right leg and foot appeared to be smaller when compared to her contralateral side (Figure 1). There were multiple vague swellings over the dorsum of right food and lateral aspect of right ankle, which were very tender to touch. There was no overlying skin changes observed. Distal pulses were palpable and comparable on both sides, and there was no neurological deficit of right lower limb on examination.

Magnetic resonance imaging (MRI) examination showed multiple well defined, encapsulated lesions of varying sizes at the level of distal third right fibula and foot. There were approximately 8 lesions found on the MRI scan. The lesions appeared isointense to muscle in T1-weighted image (T1WI), hyperintense in T2-weighted image (T2WI) with enhancement post-contrast (Figure 2-5). Excision biopsy of the right lateral distal leg swelling was performed, this particular swelling was chosen for excision biopsy as patient informed that this was the most painful swelling. Intra-operatively we noted well encapsulated deep red purplish soft tissue mass bounded by the flexor hallucis longus and peroneus brevis anteriorly and achilles tendon posteriorly (Figure 6). The excised mass measured approximately 2.3×2.0×2.5 cm³ in size. Histopathological examination (HPE) of the excised mass confirmed the diagnosis of glomus tumor.

Patient’s excision biopsy wound healed well and the parents were informed regarding the benign nature of the diagnosis based on the HPE results. They were not keen for any further surgical intervention at the moment and decided to defer further surgery as the child’s symptom was under control. The patient will be evaluated regularly, and any enlarging painful lesions will be excised as required.

DISCUSSION

There are two major forms of glomus tumors: solitary or multiple, with solitary more common than the multiple form.⁷ Patients with solitary glomus tumor are mostly young adults who presented with painful, red-blue tumor on the extremities with a predilection for subungual sites.⁷ The multiple form of glomus tumors is extremely rare and is commonly present in children.⁷ Histologically, depending on the predominant component, there are three variants of glomus tumor, namely (1) solid, with poor vasculature and scant smooth muscle component; (2) angiomatoid (glomangioma), with prominent vascular component; and (3) glomangiomyoma, with prominent vascular and smooth muscle components.⁸

Retrospective review by Anakwenze et al reported 22 patients with multiple glomus tumors over the course of 25 years.⁹ The mean duration from onset of symptoms until correct diagnosis was long (14.6 years).⁹ Most of the patients (90.9%) had involvement of an extremity.⁹ An autosomal dominant pattern of inheritance was noted in 13 of 22 patients (59.1%).⁹ Hereditary predisposition has been suggested for multiple glomus tumors, however only few familial cases have been reported, and our patient had negative family history as well.^7,9

Multiple glomus tumors are usually asymptomatic, but painful and painless lesions may be present in the same patients.⁷ The classical triad of pain, pinpoint tenderness with blunt palpation, and hypersensitivity to cold for solitary glomus tumor in the hand was not as common for multiple glomus tumor group, it was reported in only 1 out of 22 patients by Anakwenze et al.⁹ Thus, the clinical diagnosis is much more problematic and often delayed with multiple consultations prior to correct diagnosis.

Besides the clinical assessment, MRI is a useful investigating tool prior to biopsy for histopathological examination and confirmation of diagnosis. MRI can be used to define the extent of the tumor and its relationship to other anatomical structures. The MRI characteristics for extradigital glomus tumors appear similar to the more established subungual MRI appearance: relatively homogenous iso-to-hypointensity in T1WI, hyper-intensity in T2WI and strong postcontrast enhancement.¹⁰ Our own case demonstrated MRI findings in congruent with the descriptions.

The therapeutic approach for multiple extradigital glomus tumors is more complicated that solitary one whereby surgical excision is the treatment of choice. Due to their more extensive features, the treatment should be based on patient’s symptoms and expectations. If the lesions are asymptomatic and the patient is not troubled by their cosmetic appearance, there is no treatment required.⁷ Patients can be follow-up periodically for adult patients, and closer monitoring for pediatric patients to look out for disuse hypoplasia secondary to painful limb.

Our patient had hypoplastic leg and foot on the affected side, this could be due to disuse atrophy from the pain. She had multiple consultations for her painful swellings prior to her MRI investigation and referral to our musculoskeletal oncology unit. The delay in diagnosis was due to rarity of her condition and absence of cold hypersensitivity thus did not raise the clinical suspicion of initial treating physicians.

CONCLUSION

We report a rare case of multiple extradigital glomus tumor in a child with hypoplasia of the affected limb. The clinical diagnosis is much more problematic due to the rare incidents of extradigital glomus tumor and even rarer to see multiple ones. The physicians must include glomus tumors in the differential diagnosis of extradigital lesions so that early diagnosis and treatment could be administered to the patients.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: Not required

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