Neurofibromatosis

Fig. 1: Inheritance pattern of Neurofibromatosis I
References: https://healthjade.com/how-to-stop-fidgeting/

Diagnostic criteria NF-1 is diagnosed when two or more of the following are present:

1.   Six or more café-au-lait spots (Fig. 2)

         -   5 mm in diameter in prepubertal individuals

         - 15 mm in diameter in postpubertal individuals

2. ≥2 Neurofibromas of any type or one plexiform neurofibroma (Fig. 3) 

3. Two or more iris hamartomas (Lisch nodules) (Fig. 4).

4. Intertriginous freckling (Crowe sign) in axilla or inguinal (Fig. 2).

5. Optic nerve glioma (Fig. 5).

6. First degree relative with NF-1 (Fig. 1).

7. Presence of characteristic bone lesion like dysplasia of greater wing of sphenoid (Fig. 6), dysplasia and thinning of long bone cortex.

Fig. 2: (a) 6 café au lait macules (b) Axillary Freckling
References: Department of Radiodiagnosis, Shri Sathya Sai Medical College and Research Institute, Chennai/IN

Fig. 3: Neurofibromas or (1 Plexiform neurofibroma)
References: Department of Radiodiagnosis, Shri Sathya Sai Medical College and Research Institute, Chennai/IN

Fig. 4: Lisch nodules
References: https://www.emaze.com/@AWRTQLQF/Neurofibromatosis

Fig. 5: Optic nerve glioma
References: Department of Radiodiagnosis, Shri Sathya Sai Medical College and Research Institute, Chennai/IN

Fig. 6: Sphenoid wing dysplasia
References: Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. American Journal of Roentgenology. 2012 Jul;199(1): W99-106.