Eosinophilia in a Neonate With Trisomy 21, Transient Abnormal Myelopoiesis, and Neurofibromatosis Type 1

Abstract

Orbitofacial neurofibromatosis type 1 (OFNF) is a rare and unique variant of neurofibromatosis type 1. This case report aims to highlight the clinical observations and surgical management of a patient with a large atypical cavernous hemangioma, which was masquerading as a plexiform orbitofacial neurofibroma. A 35-year-old female presented with a huge orbitofacial mass, which was clinically and radiologically diagnosed as an orbitofacial neurofibroma involving the right eye and face. A detailed history and physical examination were performed, and a plastic surgery consultation was sought. The patient was diagnosed with OFNF. After conducting an orbit and brain MRI, along with other routine investigations, surgery was planned. The patient underwent right eye exenteration with an ipsilateral pedicled temporoparietal fascia flap covered with a split-thickness skin graft. Histopathology revealed the mass to be a cavernous hemangioma. In such a rare condition, an incisional biopsy may guide further definitive surgical treatment, ensuring that the final outcome involves minimum possible disfiguration and has the least impact on the quality of life of the patient.

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is not very rare, occurring in approximately 1 in 3000 live births. It is an autosomal dominant neurocutaneous disorder with diverse clinical manifestations.^[1] Most commonly, NF1 presents as benign tumors that grow slowly; however, these tumors can lead to significant functional and cosmetic impairment. Malignant transformation occurs in approximately 5%–10% of patients with NFI, particularly in the subtype known as plexiform neurofibromas.^[2]

Orbitofacial neurofibromatosis type 1 (OFNF) is a rare and unique variant of NF1. OFNF affects approximately 1%–22% of patients and is characterized by progressive tumors that cause disfigurement in the eyelid, eyebrow, temple, face, and orbits.^[1] Tumors involving the orbit in NF1 are often more aggressive and invasive compared to those found in other parts of the body, with a higher recurrence rate after surgical excision. In this report, we present a case of a 35-year-old female with a massive orbitofacial lesion mimicking plexiform OFNF, which resulted in significant visual impairment and severe cosmetic effects.

Cavernous hemangioma in infants typically resolves spontaneously and may have a dramatic course.^[3] Conversely, cavernous hemangiomas that present in adulthood, although they may originate in childhood, tend to remain stable in the early stages of the disease. However, they can cause significant deformity and distress.^[3] It is very rare to find a cavernous hemangioma that mimics a plexiform orbitofacial neurofibroma, involving the eye, orbit, and one side of the face. Due to the limited literature available on this topic, we herein aim to report a case of a large cavernous hemangioma affecting one side of the face and the orbit, which presented as a plexiform neurofibroma on imaging.

Case Report

A 35-year-old female presented with swelling involving her right eye since she was 6 months old. The swelling gradually increased in size, with rapid growth occurring in the past year. Later, it became associated with pain and discharge, along with a loss of vision over the past year. The pain radiated to the neck. Ocular examination revealed a 10 cm × 6 cm lesion involving the right upper and lower eyelids, extending to the right supraorbital margin, and displacing the adnexa and eyeball inferolaterally with abaxial proptosis [Fig. 1]. The face was asymmetric, with diffuse soft tissue involvement on the right side, along with total ophthalmoplegia in the right eye. The entire orbit was involved, and the mass was soft in consistency, nontender, and nontranslucent, with no bruit or pulsation felt. There was a serosanguinous discharge from the right eye, along with conjunctival chemosis. The cornea was clear, with a mid-dilated and fixed pupil, and there was no perception of light. Fundus examination revealed optic atrophy in the right eye, with a normal left eye. No swelling was found elsewhere in the body, and other systems were grossly normal. Her past medical history was unremarkable, and her immunizations were completed according to her age and the government schedule. There was no family history of such an illness. Routine laboratory investigations were all normal. MRI revealed a huge mass measuring approximately 8.9 × 6.8 × 7.4 cm. The mass was heterogeneously hypointense on T1 and heterogeneously hyperintense on T2 images. It was a right intra- and extra-conal lesion, likely a plexiform neurofibroma [Fig. 2]. The diagnosis was clinically more in favor of orbitofacial plexiform neurofibroma, with a possible differential of lymphangioma. The patient was planned for debulking and exenteration with reconstruction after the patient and her family were thoroughly educated and counseled. Intraoperatively, after debulking and exenteration, no abnormalities were observed in the orbital bone. The lateral wall, roof, and medial wall of the orbit were denuded of periosteum. The temporoparietal fascia was harvested, based on the superficial temporal artery and vein (temporal branch) [Fig. 3]. The skin over the zygomatic-temporal region was undermined to create a tunnel for the TP fascia to pass into the orbit. The fascia was spread over the exposed bony socket, fixed at the margins, and secured with an anchorage suture at the apex of the orbit [Supplementary Fig.]. A split-thickness skin graft was harvested from the thigh and applied over the fascia and residual soft tissue. Histopathology sections revealed numerous large, variable-sized spaces filled with blood and lined by endothelial cells [Fig. 4. H and E stain 200x], suggesting a daignosis of cavernous hemangioma. A one year follow-up indicated no recurrence. The patient is well and continues with her daily activities. Informed written consent was obtained from the patient for publication of the case, including clinical images.