NF1 and Hemihypertrophy

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Note what signs you see.

I (W. Wertelecki, M.D.) see multiple congenital bilateral cafe-au-lait spots (CoL). No matter how often we make similar points about the importance of the examination of the skin of neonates and children, all too often the diagnosis of neurofibromatosis (NF1) is missed. This instance illustrates with high probability a congenital form of NF1 phenotype. Whenever NF1 is suspected two MUST DO steps must be insured (among many others) – FIRST, all first-degree relatives (parent and siblings) must be examined because 50% of NF1 mutations are inherited and TWO, symmetry/asymmetry must be assessed on an ongoing basis. In this instance I suspect that left limbs may be larger. Hemihypertrophy is associated with an array of concurrent anomalies including renal nephroma (Wilms tumor).


Tags: galNF