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Diagnosis of Neurofibromatosis Type 1

Purpose: To use clinical criteria to diagnosis Neurofibromatosis Type 1.

Description

Neurofibromatosis can be inherited as an autosomal dominant genetic condition. Two familial disorders occur, which can be diagnosed by specific clinical criteria. Molecular diagnostic tests are available or being developed for confirmation of the affected individual and family.


Diagnostic Criteria for Neurofibromatosis 1

 

Presence of at least 2 of the following:

(1) 6 or more cafe'-au-lait spots measuring

(1a) 0.5 cm or larger in prepubertal individuals

(1b) 1.5 cm or larger in postpubertal individuals

(2) neurofibromas

(2a) 2 or more neurofibromas of any type

(2b) 1 or more plexiform neurofibromas

(3) freckling in the axilla or groin

(4) optic glioma

(5) 2 or more Lisch nodules (benign iris hamartomas)

(6) distinctive bony lesion

(6a) dysplasia of the sphenoid bone

(6b) dysplasia or thinning of long bone cortex

(7) a first-degree relative with neurofibromatosis 1


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Specialty

Objective

ICD-10