ISPUB.COM The Internet Journal of Dermatology Volume 6 Number 1 1 of 4 Neurofibromatosis Type 1 associated with vitiligo and left occipital bone defect I Bukhari, F Al Mulhim Citation I Bukhari, F Al Mulhim. Neurofibromatosis Type 1 associated with vitiligo and left occipital bone defect. The Internet Journal of Dermatology. 2006 Volume 6 Number 1. Abstract Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder with variable clinical expression spectrum. Major clinical features include pigmentary changes, central nervous system tumors, bony dysplasias and ophthalmic features. In this report we document the first case in the literature of NF1 associated with vitiligo and unusual bony defect. INTRODUCTION Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder which affects tissues derived from the neural crest. 1 Clinically it is characterized by neural tumors, cafe-au-lait spots, intertiginous freckling, Lisch nodules and skeletal defects including scoliosis, sphenoid wing dysplasia, bony distortion and local cystic and erosive changes. 2 In this paper we present the first case in the literature of NF-1 associated with vitiligo and partial absence of left occipital bone. CASE REPORT A 25-year-old Saudi female and a known case of neurofibromatosis type 1 since childhood presented to our dermatology clinic at King Fahad Hospital of the University in AlKhobar, Saudi Arabia with generalized depigmented patches of four years duration. Clinical examination of the skin revealed the presence of depigmented lesions affecting the upper and lower extremities, axillary freckling, cafe-au- lait spots and multiple plexiform neurofibromas affecting the trunk and the upper and lower extremeties (figure 1). An ophthalmic examination revealed the presence of lish nodules. Family history was positive for neurofibromatosis (her sister and grand mother affected). Radiological evaluation for the head and spine using CT scan and MRI revealed Left occipital bony defect replaced by fibrous membrane with adjacent isodense soft tissue mass lesion (figure 2,3). So we diagnosed the patient as a case of NF type 1 associated with vitiligo and partial absence of left occipital bone. Figure 1 Figure 1: Depigmented patches with obvious freckling and café au lait lesions affecting the upper arm of the patient.