Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of KIT gene with no pathogenic variants of NF1 or SPRED1 gene. Our current understanding of the KIT tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.

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Objectives: To study the prevalence of peripheral neuropathy (PN) in type 1 diabetes mellitus (DM) and its association with clinical neuropathy and glycemic control by using nerve conduction studies (NCS). Materials and Methods: This cross-sectional study was conducted in a tertiary care center from January 2018 to May 2019. Type 1 DM with at least a five-year duration was included. Demographic, clinical, and laboratory details were collected and analyzed. Results: A total of 95 (40 boys) children with a mean age of 11.8 ± 3.4years were included. Neuropathy was clinically noted in 9 out of 95 (9.4%) patients and by NCS in 46 out of 95 (48.4%) patients. The PN has a significant association with the duration of illness (P-0.05) and HbA1c (P < 0.001). The sensitivity and specificity of detecting neuropathy by HbA1c was 63.0% and 63.3%, respectively. For every unit increase in HbA1c, the odds ratio for nerve conduction increases by 55.2%. Conclusion: The prevalence of neuropathy is high in children with type 1 DM. The duration of illness and poor glycemic control are major risk factors.

This study was done to try and describe the varied clinical profile in children beyond infancy in children admitted in tertiary teaching hospital of Bangalore during the peak dengue season.