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Image Number 345 (Neurofibromatosis)

Nodule,skin coloured

Diagnosis: Neurofibromatosis

Site: Chin

Sex: F

Age: 62

Type: Clinical

Description: Multiple skin coloured nodules

Submitted by: Ian McColl

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Differential Diagnosis

History: This lady was a typical Neurofibromatosis type 1 case with multiple skin coloured papules and nodules,more than five cafe au lait macules and no central nervous system lesions.She showed Lisch nodules in her irises.Some of these nodules showed the feature of "buttonholing" where pressure on the neurofibroma caused it to pop down through the dermis into the fat layer and spring back when released.Some patients with neurofibromatosis will have endocrine and boney abnormalities.Patients with neurofibromatosis type 1 are 4 times more likely to develope malignancies than non affected individuals.Children are more likely to develope myeloid leukaemias.

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