Fanconi anaemia presenting as tonsillar squamous cell carcin
Fanconi anaemia (FA) is a rare genetic disorder, inherited usually in an autosomal recessive and rarely X-linked fashion with a prevalence rate of 3 cases/ million population. A 29 yr old male patient presented an ulcerative growth in the left tonsillar fossa and ear ache. Areas of both hyper- and hypopigmentation were found on extremities with deformed right forearm and absence of thumbs in both hands.

X-ray of forearms and wrist revealed hypoplastic radius on the right side and absence of pisiform and trapezium carpal bones on the left side. His haematological parameters were normal except for thrombocytopenia. Bone marrow study revealed reduced megakaryopoiesis. Biopsy from the tonsillar growth demonstrated moderately differentiated squamous cell carcinoma.

On semen analysis, azoospermia was seen. Chromosomal breakage study displayed marked breakage (7.0/metaphase) compared to control (0.5/ metaphase) and rearrangement after treatment with mitomycin C. Diagnosis of FA was made based on clinical and laboratory findings.

The patient’s condition improved with chemoradiotherapy and he was under follow up for the last 12 months. Clinically, there was regression of tonsillar growth without much improvement in thrombocytopenia.

Source: https://icmr.nic.in/ijmr/2018/january/clinical_image.pdf
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