Case details:
A 4year old female, known case of xeroderma pigmentosum diagnosed at 6 months of age, presented to us with history of multiple nodular swellings over the face for 3 months. On examination, she had diffused hypopigmented-hyperpigmented macules and dry skin over the whole body. There were five nodular lesions of variable size (maximum 3x3cm) over the face and a single actinic horn over the chin (Fig-1). She was developmentally normal and had a normal audiogram, but had extreme photophobia. Due to multifocal facial involvement excision was deferred by dermatologists and she underwent biopsy of the lesions.
Histopathology was suggestive of hyperkeratosis, acanthosis, papillomatosis along with keratin filled cysts and superficially invasive squamous cell carcinoma (cSCC), positive for cytokeratin and p53 (Fig-2). There was no lymphadenopathy or distant metastasis. She was labelled as high risk cSCC due to several risk features: location (face), size> 2cm and multiple lesions(3). A multidisciplinary discussion was done and it was decided to start neoadjuvant chemotherapy (NACT) for her, followed by delayed surgery and radiotherapy. Due to non-affordability of immunotherapy, platinum based NACT was started, based on the previously reported responses in several case reports in literature(4)(5)(6)(7)(8).
She was started on 3 weekly carboplatin (AUC=6) and paclitaxel (175mg/m2) regimen. On day 5 of chemotherapy she presented with vomiting, loose stool, poor oral acceptance, decreased urine output and excessive irritability. Laboratory investigations revealed profound metabolic acidosis (pH 7.1, HCO3=5.8 mEq/L). She also had deranged liver and kidney function tests along with coagulopathy (AST= 4328 IU/L, ALT= 3850 IU/L, urea= 112 mg/dL, creatinine= 2.1 mg/dL, INR=3.2). In view of acute liver and renal failure she was started on haemodialysis, blood component replacement and other supportive measures including mechanical ventilation. After 12 hrs of admission the child developed dystonic posturing, worsening sensorium and hemodynamic instability requiring multiple inotropes. The child ultimately succumbed to the illness.