The bony lesions, involved gonads, and cafe-au-lait spots are typically all on the same side of the body.
Cafe-au-lait spots are from overproduction of the enzyme tyrosinase, which is the rate-limiting step in melanin production.
On physical examination, there were multiple cafe-au-lait spots and presence of axillary freckles.
5, 6) The classic clinical characteristics of NF1 include cafe-au-lait spots, neurofibroma and several bony anomalies.
Common abnormalities were growth retardation, cafe-au-lait spots, hyperpigmentation, microcephaly, finger and thumb deformities Figure 1), Sprengel deformity, and hypogenitalism.
RAG 11 / M growth retardation 8 -- cafe-au-lait spots radial ray defects (thumbs) pallor bruising and epistaxis hepatomegaly (5cm) splenomegaly (8cm) cafe-au-lait spots growth retardation microcephaly 2.
Cutaneous and plexiform fibromas, cafe-au-lait spots
, and optic gliomas are common findings in this hereditary condition.
The most common are cafe-au-lait spots
- coffee-coloured marks found anywhere on the body - moles and bluish-grey Mongolian spots.
Some authors have reported an association of juvenile xanthogranuloma with cafe-au-lait spots
and a family history of neurofibromatosis type 1 or type 2.
Neurofibromatosis Type 1 (NF1) is a genetic disorder affecting about 1 in 3,500 people worldwide and characterized by multiple cafe-au-lait spots
and neurofibromas on or under the skin.