The firstborn in the family, with no history of consanguineousness between the parents, the patient also has first-degree relatives with the disease (a 3-year-old brother and a deceased paternal cousin). In the investigation, a good support network was found, despite the fragile social conditions, with wooden housing and poor basic sanitation.
At 1 year of age, facial macules began to appear. At age 3, he underwent surgery and two cycles of unspecified chemotherapy for a lower lip squamous cell carcinoma with level 1 adenomegaly, performed in Porto Alegre. At age 5, he moved to Chapeco, where he began to be monitored by the local health team, being under the service of oncology and palliative care. There, squamous cell carcinoma was identified in the right eyelid, right malar region, nasal wing, and left eyelid, in addition to a basosquamous carcinoma above the lip. In 2018 and 2019, basal cell carcinoma of the skin and scalp was diagnosed.
On January 27, 2021, he was admitted to the HIJG, already using vismodegib 150 mg/day; acitretin 25 mg/day; tramadol for pain; sunscreen, but with irregular use; and clothes with a UV protection factor, which was reported small for the patient's size.
On physical examination, macular lesions disseminated throughout the body, less intense in the perineum region, and some verrucous lesions on the face and neck were described. In addition, two ulcerated scalp lesions measuring about 3 cm in diameter were observed (Figure 1); an erythematous tumor with hyperkeratosis at the apex, measuring about 1.5 cm in the helix of the right ear (Figure 2); and a lesion measuring about 7 cm on the right face (Figure 3). Also, blackish lesions were visible on the face and a macerated and bleeding lesion on the tip of the tongue. Finally, the presence of a large lesion in the left orbit was described, measuring approximately 8 cm in diameter (Figure 4), making it impossible to see the eyeball. Due to lesions in the region of the orbit, the patient was already presented with a severe impairment of vision and minimal acuity restricted to the right eye. The remainder of the physical examination was basically unchanged, with auscultation of a 1+/4+ systolic murmur.
The patient was referred for interdisciplinary assessment to a psychologist, speech therapist, dentist, nutritionist, dermatologist, palliative care center, and an oncologist. On the same day of admission, a biopsy of the lesions on the face and a dental evaluation for dental excision were requested. As a care plan, analgesia was performed. A computed tomography scan of the skull, face, chest, and abdomen and a transfusion of filtered and irradiated red cell concentrate were ordered due to anemia. The following day, magnetic resonance imaging (MRI) of the skull and face was also requested, which was scheduled with the patient's return in February. Given the clinical condition that the management already referred, and the results of the first exams, the patient's discharge was scheduled on January 29, with regular returns for outpatient follow-up.
The cranial and face tomography result showed that the lesion in the left orbit was invasive, with bone involvement of the lateral wall. Chest tomography showed some supine atelectasis and fibroscarring changes in the anterior segment of the upper lobe of the left lung, and upper abdominal tomography showed no changes. Finally, the MRI report described solid and expansive lesions on both hemifaces, with an aggressive aspect to the left, determining the destruction of the left zygomatic arch and part of the ipsilateral frontal bone.
In the histopathological report, it was possible to prove the existence of a melanocanthoma in the skin biopsy of the cervical region; a carcinoma in the helix of the right ear, whose sample made it impossible to differentiate between basal cell or squamous cell; a proliferative epithelial lesion with superficial atypia in the skin of the right temporal region; an invasive squamous cell carcinoma in the left orbital lesion; and finally a pyogenic granuloma in the oral mucosa of the tongue edge. Immunohistochemistry of the right helix lesion was negative for monoclonal antibodies BER-EP4 and EMA.
After the evaluation of the case, it was decided to maintain the therapeutic approach already carried out during the follow-up of the patient by the Chapeco health team. Thus, given the palliative treatment of this disease, no surgery was performed, not even chemotherapy or radiotherapy, and the use of tramadol for pain, vismodegib and acitretin to control carcinomas, and prophylaxis tools during exposure to the sun were maintained.