Elastofibroma is a rare soft tissue tumor that predominantly occurs near the scapula in older adults. It may also be found in various other parts of the body [1]. Characterized by slow growth, firmness, and a typically painless presentation, elastofibroma is commonly a deep-seated mass involving the muscular or submuscular planes, frequently mistaken for other soft tissue tumors. Although its pathogenesis remains unclear, mechanical stress and genetic factors have been implicated, particularly in musculoskeletal elastofibromas [2]. Treatment generally involves surgical excision, particularly in symptomatic cases or when diagnostic confirmation is needed. We present a case of elastofibroma that exhibited atypical characteristics in both its anatomical location and clinical appearance. In this case, the lesion was located superficially, unlike the typical deep-seated presentation, and mimicked a cutaneous tumor. This unusual presentation led to an initial misdiagnosis as a dermatologic disorder and delay in appropriate treatment. Notably, while elastofibromas are not exclusive to the scapula, no previous reports have described their occurrence in the anterior aspect of the face.

A 36-year-old man with intellectual disability, but no other medical history, was referred from the department of dermatology for evaluation a painless, multinodular lesion. The lesion had appeared several years earlier, and there was no history of trauma or surgery to the philtrum. Initially, the lesion was diagnosed as rosacea in the dermatology department, and intralesional steroid injections were administered. However, after three injections, the patient was lost to follow-up, and when he returned 3 months later, the lesion had significantly increased in size. On initial examination in our department, the lesion appeared as an irregularly shaped, erythematous, firm, multinodular mass with phymatous features, measuring approximately 4.5 × 2.5 cm (Fig. 1A). The patient reported that the mass obstructed his nostrils and occasionally interfered with nasal clearance and breathing. Consequently, we decided to proceed with surgical excision, planning to cover the resulting skin defect with a skin graft.

Under general anesthesia, the mass was completely excised and a split-thickness skin graft was applied to the defect (Fig. 1B). Microscopic examination revealed full-thickness dermal replacement by dense eosinophilic fibrous tissue with areas of hemorrhage (Fig. 2A). Histological analysis demonstrated dense collagenous bands with disorganized lymphocytic infiltrates (Fig. 2B). Additionally, fragmented elastin fibers and a bead-like arrangement of elastin globules were identified (Fig. 3). Based on these findings, the lesion was diagnosed as elastofibroma. Two years after surgery, there have been no complications such as scar contracture or recurrence (Fig. 4).

Elastofibroma was originally described in 1961 as elastofibroma dorsi [1]. However, it has become increasingly evident that similar lesions can occur in extra-scapular locations, prompting the use of the broader term elastofibroma. Although the pathogenesis remains unknown, a reactive response to repetitive microtrauma has been suggested [2].

This tumor most commonly affects older adults, with peak incidence during the sixth and seventh decades, although rare cases have been reported in children. Women are more frequently affected than men, and many patients with musculoskeletal elastofibroma have a history of prolonged, repetitive manual labor, though this is not universal. Typically, the lesion presents as a slowly enlarging, deep mass that generally does not cause pain, tenderness, or mobility limitations. Scapular snapping is observed only in exceptional cases. These lesions most commonly arise from the connective tissue between the lower scapula and the chest wall, situated beneath the rhomboid major and latissimus dorsi muscles, and attaching to the periosteum and ligaments near the sixth, seventh, and eighth ribs. Although elastofibromas are usually unilateral, up to 10% of patients present with bilateral lesions.

Extra-scapular elastofibromas have been reported in various locations, including the hands [3], feet [4], thighs [5], gastrointestinal tract [6], neck [7], oral mucosa [8], and parotid region [9]. These reports have broadened our understanding of the potential sites for elastofibromas occurrence.

Radiologically, elastofibromas are increasingly recognized on computed tomography and magnetic resonance imaging. They typically appear as poorly circumscribed, heterogeneous soft tissue masses with signal intensities similar to skeletal muscle. The presence of interlaced fat often permits a presumptive diagnosis [10].

Histologically, elastofibromas are characterized by a mass composed of a mixture of collagen fibers and eosinophilic collagen, accompanied by occasional fibroblasts, variably sized areas of mature adipose tissue, and small amounts of interstitial mucoid material. Elastic fibers often exhibit a degenerated beaded appearance, including serrated discs, petaloid globules, or globules [10].

The clinical and histological features of elastofibroma are distinctive, making it unlikely to be confused with other fibroblastic proliferations. In contrast, elastofibrolipomas are well-circumscribed, encapsulated by a fibrous capsule, and display a more prominent adipose component in both the central and peripheral regions of the tumor.

Elastofibroma is a benign lesion, and conservative surgical excision is the treatment of choice, as local recurrence is rare. A definitive diagnosis can be achieved through biopsy in the appropriate clinical and radiographic context, potentially avoiding unnecessary additional surgeries. No reports have documented malignant transformation associated with elastofibromas.

This case is significant not only because it is the first reported instance of elastofibroma occurring in the philtrum but also because its clinical presentation was atypical. Although elastofibromas typically present as slowly enlarging, painless masses, the lesion in our patient exhibited rapid growth within 1 year, distinguishing it from the more indolent course usually observed. Furthermore, while elastofibromas are generally found in deeper anatomical planes—arising from connective tissue beneath the muscle layers—the lesion in this case manifested clinically as a cutaneous mass, mimicking a primary skin tumor.

The atypical characteristics of this lesion emphasize the importance of maintaining a broad differential diagnosis when evaluating soft tissue neoplasms in the facial area. Although elastofibroma usually presents asymptomatically and is localized to the scapular region, but this case demonstrates that it can occur in rare locations. Thus, elastofibroma should be considered when diagnosing painless soft tissue masses of the face. Accurate diagnosis requires combination of clinical evaluation, radiological imaging and histopathological analysis to avoid misdiagnosis and ensure proper surgical management.

Facial neoplasms can sometimes arise in unexpected locations, making diagnosis challenging [11,12]. In our case, the lesion was initially misdiagnosed as rosacea by the department of dermatology. Although the lesion’s external appearance resembled rosacea—a chronic inflammatory skin disorder characterized by erythema, telangiectasia, and inflammatory infiltrates of neutrophils and lymphocytes—its underlying pathophysiology is entirely different. Consequently, the anti-inflammatory treatments typically used for rosacea were ineffective, underscoring the need for an accurate diagnosis.

When treating neoplastic lesions in the facial area, particularly those affecting the philtrum and upper lip, a variety of reconstructive techniques are available in addition to skin grafting. In cases of upper lip defects involving full-thickness loss, including the muscle layer, the choice of reconstructive approach is depends on the width of the defect. For smaller defects, primary repair or an Abbe flap may be considered, whereas larger defects, exceeding half the width of the lip, often require techniques such as the Karapandzic or Bernard-Webster flaps. When the defect involves the oral commissure, options such as the Estlander flap can be utilized. Additionally, for partialthickness defects, the nasolabial flap is often an appropriate choice [13]. However, in our case, since the defect was limited to the skin with the orbicularis oris muscle preserved, skin grafting was performed.

The patient’s family history was unremarkable, with no family members having a medical history of elastofibroma or similar lesions on the philtrum. Interestingly, the patient had a habit of frequently and excessively rubbing his philtrum, suggesting a potential link between microtrauma-induced pathogenesis [2] and the onset and exacerbation of elastofibroma. Further research is necessary to confirm this association.

Facial neoplasms can have significant psychological and social impacts, affecting self-esteem and social interactions. Therefore, further understanding of the underlying causes, along with early diagnosis and appropriate treatment, may help alleviate these concerns.