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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.

Introduction: Juvenile Idiopathic Arthritis (JIA) is the most common rheumatic condition of childhood. It represents a heterogeneous group of childhood arthritis. Aim: To study the clinical profile and laboratory characteristics of all newly diagnosed JIA patients. Materials and Methods: This hospital-based prospective observational study was conducted in the Department of Paediatric Rheumatology in Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India between December 2017 to April 2019. All children who fulfilled International League of Associations for Rheumatology (ILAR) criteria for the diagnosis of JIA were enrolled in the study, and their clinical and laboratory parameters were evaluated. The analysis between matched-pairs data like the comparison between age of onset and age of presentation in males and females were done by paired t-test. Results: Fifty one children were included in the study with M:F of 1:1.12. Mean age at onset was 8.71±4.02 years and median duration of disease was 13 months (2-96 months). The most common subgroup was polyarticular JIA 18 (35.3%) followed by Systemic Onset Juvenile Idiopathic Arthritis (SOJIA) 14 (27.5%), enthesitis-related arthritis 13 (25.5%) and oligoarticular JIA 4 (7.8%). Knee (94%) was the most common joint involved followed by the ankle (70.5%). Fever was the most common extra-articular feature present in 73% of cases. Hepatomegaly, splenomegaly and lymphadenopathy was present in 33.3%, 9.8% and 21.6% children, respectively. Anaemia, leukocytosis, thrombocytosis and elevated Erythrocyte Sedimentation Rate (ESR) were more common in SOJIA. Macrophage Activation Syndrome (MAS) was diagnosed in 2 cases of SOJIA (14.3%) with no mortality. Conclusion: Polyarticular JIA was the common subtype in the study, followed by SOJIA. Most common joint involved was knee, followed by ankle and fever is the most common extraarticular manifestation.