Disorder | Café-au-lait | Skinfold freckling | Hyperpigmented patches | Cutaneous or subcutaneous nodules | Other features |
NF1 | - More than 6 larger than 5 mm in child >2 years of age
- Sharp margins
- Café-au-lait spots may be inconspicuous if spinal NF
| - Present between 3 to 5 years of age in inguinal and axillary regions
- Skinfold freckles may be inconspicuous in spinal NF
| - Large hyperpigmented patches, often overlie plexiform neurofibromas
| - Present in most by late childhood, early teens
- Predominantly subcutaneous nodules in spinal NF
| - Macrocephaly
- Bone dysplasias
- Optic glioma
- Plexiform neurofibromas
- Learning disabilities
- Lisch nodules
|
Legius syndrome | - More than 6 larger than 5 mm in child >2 years of age
- Sharp margins
| - Present between 3 to 5 years of age in inguinal and axillary regions
| | | - Macrocephaly
- Learning disabilities
|
NF2 | - Occasionally more than 6 café-au-lait macules
| | | - Cutaneous schwannoma plaques
| - Vestibular and other schwannomas
- Meningiomas
- Ependymomas
|
McCune-Albright syndrome | - Irregularly shaped, jagged margins
| | - Large regional hyperpigmented patches with irregular shape
| | - Polyostotic fibrous dysplasia
- Precocious puberty
|
Noonan syndrome | - Café-au-lait spots very dark
| - May have diffuse lentigines (Noonan syndrome with multiple lentigines)
| | | - Short stature
- Characteristic facial features
- Pulmonic stenosis
- Cardiomyopathy
|
Silver-Russell syndrome | - May have several typical café-au-lait spots
| | | | - Small for gestational age
- Growth failure
- Body asymmetries
- Relative macrocephaly
|
Constitutional mismatch repair deficiency syndrome | - May have typical or atypical cafe-au-lait spots
| | | - Neurofibromas may be present
| - Increased risk of malignant tumors
|
PTEN hamartoma syndrome | | - Males with Bannayan-Riley Ruvalcaba syndrome have freckling on glans penis
| | | |
Chromosomal mosaicism | - Atypical café-au-lait spots may follow lines of Blaschko
| | | | - Mosaic chromosomal anomalies
- May only be seen in cultured fibroblasts
|
Carney syndrome | - May have typical café-au-lait spots
| - Lentigines on skin and mucous membranes
| | | - Atrial myxoma
- Adrenal nodules
- Thyroid tumors
|