Piebaldism with Neurofibromatosis-1 with Skeletal Anomalies in Two Successive Generations

Abstract

Piebaldism is a rare autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair due to mutations of the c-KIT gene on chromosome 4q12. Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder. We present a case report of three siblings with piebaldism with neurofibromatosis-1. They presented with depigmented lesions over the abdomen and knees since birth. Two of them had white forelock of hair. The oldest sibling had gait abnormality, scoliosis, and reported repigmentation over the forehead lesion. Along with that, multiple café-au-lait macules were present in all the three siblings of size more than 5 mm in diameter and more than 6 in number. Their father had a history of similar depigmented macules over both shins and he also developed freckles over the axilla, palms, and feet. Diagnosis of piebaldism and NF1 was based on clinical features, and the National Institute of Health Consensus Conference in 1987 has given seven diagnostic criteria.