Piebaldism and Neurofibromatosis type -1: Family Report Familial Case of Piebaldism with Regression of the Depigmentation over the Trunk

Abstract

Case 1A 36 years old man presented to dermatology department, ALERT hospital for a consultation of his skin problem. He states that he has a congenital pigment disorder. He was worried if it were leprosy. He had no symptoms of leprosy such as numbness of the extremities or contact history either. The patient claimed the pigment disorder, mainly on his trunk, improved a lot over the years. He also brought two of his children (9yr old boy and 1yr and7/12 daughter) to the hospital, for they had similar congenital disorder. The children had no other medical problems.Physical examinations reveals poliosis (loss of pigment of the hair) over the scalp (fronto-temporal), medial part of the eye brow of the left side and the chin area. The skin over the anterior trunk has hypopigmented patches with areas of repigmentations and leukotrichia. There are also numerous discrete café-au-lait spots of different size (>15mm the largest one) located over the back of the patient. There were also axillary frecklings. No neurofibromas were observed (Figures1-3). Case 2Physical examination of the skin of the boy reveals patches of hypopigmentation and depigmentations over mid-forehead, chest, abdomen, upper and lower extremities. A white forelock and pigment loss of the medial eye brows were noted. Within the depigmented patches, islands of hyperpigmented macules are seen. Multiple hyperpigmented macules(café-au-lait spots of size >5 mm) were also seen over the back of this child .There were also axillary freckling. No neurofibromas were observed . AbstractPiebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated with a defect in the migration and differentiation of melanoblasts from the neural crest. Clinical manifestations and phenotypic severity strongly correlates with the site of mutation within the KIT gene. The white hair and patches of such patients are completely formed at birth and do not usually progress or regress thereafter.Here I report a family (one year and seven months old daughter, nine year old boy and their father) with piebaldism associated with clinical criteria for Neurofibromatosis type -1. There are rare reports of piebaldism associated with neurofibromatosis -1. I also report a case of piebaldism with regression of the depigmentation over the trunk. Regression of the white foreloke was rarely reported but regression over the depigmentation over the trunk has not been reported. Case 3Physical examination of the skin of the daughter reveals mild forelock, depigmented patch over the abdomen , multiple café-au-lait spots (>5 mm) on her back with axillary frecklings .