Preeti Agarwal

Abstract

Chondrodysplasia punctata (CDP) is a rare, skeletal dysplasia characterized by stippled, punctuate calcifications around joints and within cartilages. A 4 months old female infant presented to us for aspiration cytology with clinical suspicion of sarcoma due to complaint of ankle swelling and failure to thrive. Fine needle aspiration (FNA) smears were acellular with only calcific deposits. On clinical co-relation depressed nose and frontal bossing were noted. We suspected it to be a case of congenital skeletal dysplasia. Plain X-ray of the lesion was ordered and it revealed stippled calcification in place of ankle bones consistent with chondrodysplasia punctata. The present case is an index case describing the cytology of chondrodysplasia punctata. CDP is mainly a radiologically diagnosed lesion, however the knowledge of its cytological picture through this case will make pathologists alike aware if they encounter such case. The management is basically supportive and rehabilitative.   Keywords: Chondrodysplasia punctata, Skeletal dysplasia, Fine needle aspiration, Calcific deposits and Stippled calcification

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Abstract

Background: Histiocytes with coffee bean like nucleus are the diagnostic hallmark of Langerhans cell histiocytosis (LCH) supported with immunohistochemical (IHC) demonstration of fascin, CD1a and S-100. We report a case of Letterer-Siwe disease in a 40year male diagnosed on cytology and IHC on cytosmears along with cytomorphology in Liquid based cytology (LBC) smears. Materials and Methods: Forty year male presented with complains of low grade fever and reduced appetite from two years with a cervical swelling and discomfort from five months. Results: Fine needle aspiration(FNA) from cervical lymph node showed sheets of histiocytes in background of mixed inflammatory cells. LBC smears highlighted fine chromatin, delicate nuclear outline with coffee bean like morphology. On IHC tumor cells were positive for S-100 and CD1a. CT thorax revealed consolidation in left lower lung, bone lesions were found on skeletal survey. Conclusion: Hence diagnosis of Letterer-Siwe disease was given. Patient responded well to systemic chemotherapy.   Keywords: Langerhans cell histiocytosis (LCH), Fine needle aspiration (FNA), Immunohistochemistry (IHC), Liquid based cytology (LBC) smears.

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