Neurofibromatosis 1/Noonan syndrome associated with Hashimoto's thyroiditis and vitiligo.

Sir, Neurofibromatosis 1 (NF1) is an autosomal dominant disease which predominantly involves the skin and the nervous system. The cardinal features of NF1 include neurofibromas, café-au-lait spots, axillary and inguinal freckling, eye abnormalities comprising Lisch nodules, optic glioma and osseous lesions and learning disabilities (1). Noonan syndrome (NS), is a genetic disorder whose prevelance is estimated to be 1 in 1000 or 2500 live births. It is characterized by unusual triangular-shaped face, hypertelorism, down-slanting eyes, ptosis, strabismus, amblyopia, refractive errors, low-set ears with thickened helices, high nasal bridge, webbed neck, congenital heart disease (dysplastic/stenotic pulmonic valve, hypertrophic cardiomyopathy), short stature and chest deformities (pectus carinatum/excavatum, scoliosis) (2). Vitiligo, characterized by depigmented macules and patches on the skin, has been commonly reported as a component of multiple autoimmune syndromes and in association with autoimmune thyroid disease such as Hashimoto’s thyroiditis and Graves’ disease (3). Although NF1 has been seen in relation with various autoimmune diseases, coexistence with either Hashimoto’s disease or vitiligo has not been reported previously. Here we report a case with established NF1/NS who also has a diagnosis of vitiligo and Hashimoto’s disease.