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.