| Von Recklinghausen’s neurofibromatosis is an autosomal dominant illness that is frequent in the population. It affects to 1/3000 live births. Half of all cases are familial and the other half are sporadic.
The diagnostic criteria, established in a conference of consensus in 1987 (updated in 1997) in the NIH (USA) include:
six or more cafe-au-lait macules of greatest diameter >5 mm in prepubertal and >15 mm in postpubertal individuals; two or more neurofibromas of any type or one plexiform neurofibroma; freckling in the axillary or inguinal regions; optic glioma; two or more Lisch nodules (iris hamartomas); a distinctive bony lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudoarthrosis; a first-degree relative (parent, sibling, or offspring) with NF1 based upon the above criteria.
Answer the autotest
Author:
Juan I Pérez Calvo
Servicio de Medicina Interna
Hospital Clínico Universitario
Translation: Kelly
Watt |
