Melanocytic hamartomas of the iris (Lisch nodules), axillary freckling
(Crowe's sign), or multiple cutaneous neurofibromas serve as additional clues to neurofibromatosis.
It is characterized by cutaneous findings, most notably cafe-au-lait spots and axillary freckling
, osseous dysplasia, and benign and malignant nervous system tumors, and neurofibromas in particular.
as a diagnostic aid in neurofibromatosis.
Examination of the sibling also revealed cafe-au-lit spots and axillary freckling
On the other hand, neurofibromatosis (NF) is a common genodermatosis of autosomal dominant variant with an incidence of 1 in 3000 births.1 NF can be diagnosed clinically by the presence of cafACopyright-au-lait macules, cutaneous and subcutaneous nodules, axillary freckling
and peripheral nerve enlargement.
The skin examination revealed multiple papilloma lesions of 0.5 to 5 centimeters in diameter located on the anterior and posterior thorax, abdomen and upper limbs that were interpreted as neurofibromas, along with cafe-au-lait spots and axillary freckling
, cafe-au-lait macules, plexiform neurofibromas or any other skeletal deformities were not present.
2007;39:1120-6) at the Catholic University of Leuven (Belgium), the hallmarks of Legius syndrome include multiple cafe au lait macules, axillary freckling
, and autosomal dominant transmission, all of which are also among the NF1 diagnostic criteria established by the National Institutes of Health (JAMA 1997;278:51-7).
The disease can manifest as one of several types of lesions, including cafe au lair spots, cutaneous tumors, plexiform lesions, axillary freckling
, Lisch nodules of the iris, optic gliomas, and bony abnormalities.
"Typically the next feature is axillary freckling
, which is usually evident in the school-age child.
Children with neurofibromatosis type 1 may demonstrate Crowe's sign (axillary freckling
); but their plexiform neuromas, if present, may contain significantly more pigment than lesions pictured in textbooks.
(3) NF1 is characterized by multiple cafe-au-lait macules, axillary freckling
, neurofibromas, and Lisch nodules (pigmented iris hamartomas).