eMedicine Specialties > Pediatrics: General Medicine > Dermatology
Cafe Au Lait Spots: Differential Diagnoses & Workup
Updated: Jul 20, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
Gaucher Disease
McCune-Albright Syndrome
Neurofibromatosis
Tuberous Sclerosis
Wiskott-Aldrich Syndrome
Other Problems to Be Considered
Becker melanosis(without hypertrichosis)
Congenital nevus
Early nevus spilus
Linear nevoid hyperpigmentation
Postinflammatory hyperpigmentation
Workup
Laboratory Studies
- Genetic testing is available for the diagnosis of neurofibromatosis type 1 (NF1)-associated café au lait macules (CALMs).
Histologic Findings
- Hyperpigmentation of basilar keratinocytes is noted.
- Giant melanosomes may be present within keratinocytes.
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| Overview: Cafe Au Lait Spots |
Differential Diagnoses & Workup: Cafe Au Lait Spots |
| Treatment & Medication: Cafe Au Lait Spots |
| Follow-up: Cafe Au Lait Spots |
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References
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Further Reading
Keywords
café au lait spots, cafe au lait spots, pigmented macules, axillary freckling, neurofibromatosis, neurofibromatosis type 1, NF1, neurofibromatosis type 2, NF2, Von Recklinghausen disease, peripheral neurofibromatosis, NF2, McCune-Albright syndrome, tuberous sclerosis, Fanconi anemia, optic glioma, Lisch nodules, pseudarthroses, congenital glaucoma, sphenoid wing dysplasia, precocious puberty, aplastic anemia, mental retardation, ash leaf spots, angiofibromas
hemangiomas, cardiac rhabdomyomas, shagreen patches, Russell-Silver syndrome, Silver-Russell syndrome, ataxia telangiectasia, Bloom syndrome, Gaucher disease, Gaucher syndrome, Chiak-Higashi syndrome, Hunter syndrome, Maffucci syndrome, Watson syndrome, Crowe sign, scoliosis, hypoplastic bowing of the legs, osseous lesions in the ribs, pseudoarthritis of the tibia, spina bifida, scalloping of the vertebral body, neurofibromas, lipomata, angiomata, ptosis, pheochromocytoma
Differential Diagnoses & Workup: Cafe Au Lait Spots