Article
Clericuzio-type poikiloderma with neutropenia in a patient from India.
American journal of medical genetics. Part A - 1 Jan 2021
Bishnoi Anuradha, Jamwal Manu, Das Reena, Scaria Vinod, Vishwajeet Vikarn, De Dipankar, Saikia Uma Nahar, Mahajan Rahul
Abstract excerpt
A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows. Total leucocyte count and absolute neutrophil count were 3720/mm3 and 420/mm3 respectively. The neutropenia was not cyclical. Systematic analysis of the whole exome...
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