Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil

Table 2

Clinical profile of patients with clinical diagnosis of neurofibromatosis 1 in this study.

Neurofibromatosis 1 Diagnostic Criteria^1	Presence of the changes/evaluated	%
Café-au-lait spots (>1,5 cm)	33/45	73.3
Two or more cutaneous neurofibromas	37/45	82.2
Plexiform neurofibroma^2	17/45	37.8
Axillary freckling or freckling in inguinal regions	43/45	95.5
Optic pathway gliomas	1/45	2.2
Two or more Lisch nodules	20/23^3	87.0
Sphenoid wing dysplasia	2/30^4	6.7
Pseudoarthrosis	1/45	2.2
First-degree relative with neurofibromatosis 1	33/44^5	75.0

National Institute of Health Consensus Development Conference Statement: Neurofibromatosis Bethesda, 1988.
²Only cases confirmed by biopsy.
³Twenty-two patients did not attend the appointment with the ophthalmologist for personal reasons.
⁴Fifteen patients did not attend the performance of the RX for personal reasons, but none had evidence of sphenoid bone dysplasia.
⁵One person was adopted and was unaware of this information.