A child with axillary freckling and café au lait spots.
نویسنده
چکیده
منابع مشابه
A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecular study of a Chinese patient with giant ...
متن کاملA novel mutation in NF1 gene in a Chinese patient with Legius syndrome like café au lait spots
Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius syndrome (OMIM, 611431) both have multiple café au lait spots. It is a challenge to differentiate the two diseases. Here we report a Legius syndrome-like patient who finally was identified as NF1 with a novel mutation in NF1 exon1 (c.55G > T). The mutation caused a substitution of a glutamic acid (GAG) with a terminator codon (TAG). For t...
متن کاملA Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
A 33-year-old woman visited Ajou University Hospital with a history of multiple café-au-lait spots and skin neurofibromas. She had a family history of NF1; her grandfather, mother, aunt, and younger sister had been diagnosed with NF1 (Fig. 1). Her growth and development were normal, and she had no history of surgery. However, physical examination revealed multiple café-au-lait spots, axillary f...
متن کاملBloom’s syndrome: A case presentation
Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...
متن کاملCoexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1
Ankylosing spondylitis (AS) is a systemic disease primarily characterized by the inflammation of sacroiliac joints and axial skeleton. Neurofibromatosis type 1 (NF1) is a multisystem genetic disease which is characterized by cutaneous findings, most importantly café-au-lait spots and axillary freckling, by skeletal dysplasia, and by the growth of both benign and malignant nervous system neoplas...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
دوره 167 3 شماره
صفحات -
تاریخ انتشار 2002