Beyond the Surface: A Fascinating Case of Multiple Lip Neurofibromas

Madam, Neurofibromas (NFs) are common benign nerve sheath tumors that can present as localized lesions (sporadic) or as a part of various syndromes such as neurofibromatosis type 1.[1] Only about 25% of the total cases involve the head-and-neck region; 6.5% present with oral involvement, and the tongue is the most common site of involvement.[1] Lip involvement is an infrequent presentation among oral NFs.[1] Hence, we report a case of multiple NFs over the upper lip in a 15-year-old male. A 15-year-old male presented to us with multiple asymptomatic, nonprogressive, skin-to-pale-colored, raised lesions over his upper lips for 2 months. There was no history of pain, bleeding, itching, manipulation, similar lesions elsewhere over the body, or a significant medical or family history. Physical examination showed three skin-colored, well-defined, compressible, nontender nodules with a smooth surface of about 0.3 cm × 0.5 cm size each, present over the upper lip, with no secondary changes [Figure 1a and b]. There was no evidence of café au lait macules, axillary or inguinal freckling, skeletal abnormalities, or Lisch nodules. Systemic examination was unremarkable. Dermoscopy was performed using a handheld 3Gen DermLite DL4 dermatoscope at × 10 using both polarized modes, which revealed homogeneous brown areas with fingerprint structures at places [Figure 2a]. Histoid Hansen’s disease, granuloma annulare, and sarcoidosis were kept as differential diagnoses. Biopsy of the lesion revealed well-defined, irregularly shaped nodules composed of haphazardly arranged spindle cells with small wavy nuclei in a densely arranged stroma in the mid and lower reticular dermis, suggestive of NF [Figure 2b]. Based on the above findings, a diagnosis of localized NFs was reached, and parents were counseled regarding the benign nature of the condition.Figure 1: (a and b) Multiple skin-colored, well-defined, compressible, nontender nodules with a smooth surface over the upper lipFigure 2: (a) Dermoscopy of lesion revealed homogeneous brown areas (black circle) with fingerprint structures (black square) (×10, polarized mode). (b) Well-defined, irregularly shaped nodules composed of haphazardly arranged spindle cells with small wavy nuclei in a densely arranged stroma in the mid and lower reticular dermis (H and E, ×40)NFs in the head-and-neck region can be either cutaneous, mucosal, or deep neural bundles, usually related to facial, glossopharyngeal, or vagus nerves.[2] Solitary or localized NFs are not associated with axillary freckling, café au lait spots, lisch nodules, scoliosis, or any family history of NF-1, as seen in our case.[3] Oral mucosal NFs are generally syndromic; however, isolated oral lesions account for about 4%–7% of the cases.[2] The tongue is the most common site of predilection based on the published literature, followed by palate, mandibular ridge, maxillary ridge, buccal mucosa, and gingiva.[2,3] Our case had lip involvement, and reports on lip NFs are scarce in Indian literature [Table 1].[1,3–7] They present as pedunculated or sessile nodules, characterized by slow growth and asymptomatic nature.[2,4] The differential diagnoses include mucocele, fibroma, dermatofibroma, lipoma, lymphatic hemangioma, and other granulomatous conditions including tuberculosis, sarcoidosis, leprosy, and granuloma annulare; the diagnosis usually requires a histopathological confirmation. In 85%–100% of cases, immunostaining with S-100 confirms its neural origin.[8]Table 1: Review of literature describing labial neurofibromasOn dermoscopy, yellow-to-skin-colored background, brown or gray homogeneous areas can be observed in the global pattern. However, focal dermoscopy frequently shows exaggerated skin markings and pigment-like pattern or fingerprint-like pattern with or without branching vessels.[8] Dermatofibroma shows a comedo-like opening with irregular crypts while reticular or hairpin-like vessels on an erythematous base are seen on dermoscopy of a mucocele.[1] Localized oral NFs are stable, without an obvious risk of undergoing a malignant transformation into sarcoma.[2] Treatment of asymptomatic tumors is usually undertaken for cosmetic concerns. The various treatment modalities include surgical excision, radiofrequency ablation, CO2 laser, and electrodesiccation.[7] Multiple localized NFs over the lips are an unusual presentation and can be considered a differential diagnosis of other nodular lesions over the lips. They are characterized by their asymptomatic nature with slow progression and can be excised without high chances of recurrence. Our case highlights the utility of dermoscopy in diagnosing isolated NFs over the lip, occurring sporadically. Declaration of patient consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent (s)/guardian (s) of the patient. In the form, the parent (s)/guardian (s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.