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خرید پکیج

تعداد آیتم قابل مشاهده باقیمانده : 3 مورد

Differential diagnosis of café-au-lait macules

Differential diagnosis of café-au-lait macules

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	None	None	Macrocephaly Learning disabilities
NF2	Occasionally more than 6 café-au-lait macules	None	None	Cutaneous schwannoma plaques	Vestibular and other schwannomas Meningiomas Ependymomas
McCune-Albright syndrome	Irregularly shaped, jagged margins	None	Large regional hyperpigmented patches with irregular shape	None	Polyostotic fibrous dysplasia Precocious puberty
Noonan syndrome	Café-au-lait spots very dark	May have diffuse lentigines (Noonan syndrome with multiple lentigines)	None	None	Short stature Characteristic facial features Pulmonic stenosis Cardiomyopathy
Silver-Russell syndrome	May have several typical café-au-lait spots	None	None	None	Small for gestational age Growth failure Body asymmetries Relative macrocephaly
Constitutional mismatch repair deficiency syndrome	May have typical or atypical cafe-au-lait spots	May be present	None	Neurofibromas may be present	Increased risk of malignant tumors
PTEN hamartoma syndrome	None	Males with Bannayan-Riley Ruvalcaba syndrome have freckling on glans penis	None	None	None
Chromosomal mosaicism	Atypical café-au-lait spots may follow lines of Blaschko	None	None	None	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	None	Raised blue nevi	Atrial myxoma Adrenal nodules Thyroid tumors

NF: neurofibromatosis; PTEN: phosphatase and tensin homolog.

Courtesy of Bruce R Korf, MD, PhD; Mina Lobbous, MD; and Laura K Metrock, MD.

Graphic 128379 Version 1.0

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