eMedicine Specialties > Pediatrics: General Medicine > Dermatology

Cafe Au Lait Spots: Differential Diagnoses & Workup

Author: William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
Coauthor(s): Raj D Sheth, MD, Professor of Neurology, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Nazanin Saedi, MD, Resident Physician, Department of Dermatology, University of California, Irvine, School of Medicine
Contributor Information and Disclosures

Updated: Jul 20, 2009

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.

More on Cafe Au Lait Spots

Overview: Cafe Au Lait Spots
Differential Diagnoses & Workup: Cafe Au Lait Spots
Treatment & Medication: Cafe Au Lait Spots
Follow-up: Cafe Au Lait Spots
Multimedia: Cafe Au Lait Spots
References

References

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  2. Abeliovich D, Gelman-Kohan Z, Silverstein S, et al. Familial cafe au lait spots: a variant of neurofibromatosis type 1. J Med Genet. Dec 1995;32(12):985-6. [Medline].

  3. Tekin M, Bodurtha JN, Riccardi VM. Cafe au lait spots: the pediatrician's perspective. Pediatr Rev. Mar 2001;22(3):82-90. [Medline].

  4. De Schepper S, Boucneau J, Vander Haeghen Y, et al. Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?. Arch Dermatol Res. Apr 2006;297(10):439-49. [Medline].

  5. Medina YN, Rapaport R. Evolving diagnosis of McCune-Albright syndrome. atypical presentation and follow up. J Pediatr Endocrinol Metab. Apr 2009;22(4):373-7. [Medline].

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  9. Alster TS. Complete elimination of large cafe-au-lait birthmarks by the 510-nm pulsed-dye laser. Plast Reconstr Surg. 1995;96:1660-64. [Medline].

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  12. Cnossen MH, Moons KG, Garssen MP, et al. Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital. J Med Genet. Aug 1998;35(8):624-7. [Medline].

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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

Contributor Information and Disclosures

Author

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

Coauthor(s)

Raj D Sheth, MD, Professor of Neurology, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic
Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, and Child Neurology Society
Disclosure: Nothing to disclose.

Nazanin Saedi, MD, Resident Physician, Department of Dermatology, University of California, Irvine, School of Medicine
Nazanin Saedi, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Kevin P Connelly, DO, Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University; Medical Director, Paws for Health Pet Visitation Program of the Richmond SPCA; Pediatric Emergency Physician, Emergency Consultants Inc, Chippenham Medical Center
Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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