Cafe Au Lait Spots 

  • Author: William D James, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 1, 2011
 

Background

Café au lait spots, or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown to dark brown;[1] this is reflected by the name of the condition, which means "coffee with milk." The borders may be smooth or irregular.

The size and number of café au lait skin lesions widely vary and are usually the earliest manifestations of neurofibromatosis.[2] The macules may be observed in infancy, although they are typically very light in infants and can be difficult to appreciate. The skin lesions develop in early infancy, and they may enlarge in size and become obvious after age 2 years.

Café au lait macules are observed in 95% of patients with neurofibromatosis type 1 (NF1), which is the most frequently occurring neurocutaneous syndrome. These spots may also be observed in patients without NF1. Other conditions in which they may be observed include McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.

The images below depict various café au lait lesions.

Axillary freckling showing café au lait spots. Axillary freckling showing café au lait spots. Multiple irregular sized and shaped café au lait lMultiple irregular sized and shaped café au lait lesions. Café au lait lesions. Café au lait lesions. Café au lait lesions. Café au lait lesions.
Next

Pathophysiology

Café au lait spots are caused by an increase in melanin content, often with the presence of giant melanosomes. A significant increase in melanocyte density is noted in the café au lait macules of patients with NF1 compared with patients who have isolated café au lait macules without NF1 involvement. Also, an increase in stem cell factor cytokines is more frequently observed in NF1 café au lait macules than non-NF1 café au lait macules.

Previous
Next

Epidemiology

Frequency

United States

In the newborn period, solitary café au lait spots may occur in 0.3% of whites, 3% of Hispanics, and in 18% of blacks.[3] In childhood, solitary café au lait macules occur in 13% of whites and 27% of blacks. Two or more café au lait macules were not observed in any of 4000 white newborns, although they were found in 8% of black newborns. Café au lait spots that confirm the diagnosis of NF1 occur at an estimated frequency of 1 in 3500 persons.[4]

International

Solitary café au lait spots occur in 0.5% of Arab newborns and in 0.4% of Chinese newborns.[3]

Mortality/Morbidity

No reports indicate that café au lait macules undergo malignant change. Café au lait macules are benign and produce no mortality or morbidity.

Race

Café au lait spots are more frequently observed in black children.

Sex

No sexual predilection is recognized.

Age

Typically, café au lait spots are present at birth, although they may be difficult to appreciate. A Wood lamp may improve the ability to visualize these faint spots. By the time the child is aged 2-3 years, café au lait macules are clearly visible. The size and number of café au lait macules increase with patient age in patients with NF1.

Previous
Proceed to Clinical Presentation
 
 
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

Coauthor(s)

Raj D Sheth, MD  Professor, 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  Fellow, SkinCare Physicians, Chestnut Hill, MA

Nazanin Saedi, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Dermatologic Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Kevin P Connelly, DO  Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University School of Medicine; 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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-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.

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 Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Plensdorf S, Martinez J. Common pigmentation disorders. Am Fam Physician. Jan 15 2009;79(2):109-16. [Medline].

  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].

  6. [Best Evidence] Polder KD, Landau JM, Vergilis-Kalner IJ, Goldberg LH, Friedman PM, Bruce S. Laser eradication of pigmented lesions: a review. Dermatol Surg. May/2011;37:572-95. [Medline].

  7. Carpo BG, Grevelink JM, Grevelink SV. Laser treatment of pigmented lesions in children. Seminars in Cutaneous Medicine and Surgery. 1999;18:233-243. [Medline].

  8. Stratigos AJ, Dover JS, Arndt KA. Laser treatment of pigmented lesions- 2000: how far have we gone?. Arch Dermatol. 2000;136(7):915-21. [Medline].

  9. Goldberg DJ. Laser treatment of pigmented lesions. Dermatol Clin. 1997;15:397-407. [Medline].

  10. Alora MB, Arndt KA. Treatment of a café-au-lait macule with the erbium:YAG laser. J Am Acad Dermatol. 2001;45:566–8. [Medline].

  11. 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].

  12. [Guideline] Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. Aug 2007;16(4):387-407. [Medline].

  13. Benedict PH, Szabo G, Fitzpatrick TB, Sinesi SJ. Melanotic macules in Albright's syndrome and in neurofibromatosis. JAMA. Aug 26 1968;205(9):618-26. [Medline].

  14. 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].

  15. Cohen JB, Janniger CK, Schwartz RA. Cafe-au-lait spots. Cutis. Jul 2000;66(1):22-4. [Medline].

  16. De Schepper S, Boucneau J, Lambert J, et al. Pigment cell-related manifestation in neurofibromatosis type 1: an overview. Pigment Cell Research. 2005;18:13-24. [Medline].

  17. Dohil MA, Baugh WP, Eichenfield LF. Vascular and pigmented birthmarks. Pediatric Clinics of North America. 2000;47:783-812. [Medline].

  18. Eichenfield LF, Gibbs NF. Hyperpigmentation disorders. In: Textbook of Neonatal Dermatology. 2000:370.

  19. Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet. Mar 26 1999;89(1):1-6. [Medline].

  20. Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet. May 16 1997;70(2):138-43. [Medline].

  21. Hofman KJ, Boehm CD. Familial neurofibromatosis type 1: clinical experience with DNA testing. J Pediatr. Mar 1992;120(3):394-8. [Medline].

  22. Hofman KJ, Harris EL, Bryan RN, Denckla MB. Neurofibromatosis type 1: the cognitive phenotype. J Pediatr. Apr 1994;124(4):S1-8. [Medline].

  23. Johnson BL, Charneco DR. Cafe au lait spot in neurofibromatosis and in normal individuals. Arch Dermatol. Oct 1970;102(4):442-6. [Medline].

  24. Legius E, Descheemaeker MJ, Steyaert J, et al. Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence. J Neurol Neurosurg Psychiatry. Dec 1995;59(6):638-40. [Medline].

  25. Listernick R, Darling C, Greenwald M, et al. Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr. Nov 1995;127(5):718-22. [Medline].

  26. Nguyen JT, Yan AC, James WD. Large solitary cafe au lait spots: a report of 5 cases and review of the literature. Cutis. May 2004;73(5):311-4, 316. [Medline].

  27. Orion E, Matz H, Wolf D, Wolf R. Cafe au lait has hue of its own. Dermatology Online Journal. 2003;9:8. [Medline].

  28. Pinson S, Wolkenstein P. Neurofibromatosis type 1 or Von Recklinghausen's disease. La Revue de Medecine Interne. 2005;26:196-215. [Medline].

  29. Ruggieri M, Huson SM. The neurofibromatoses. An overview. Ital J Neurol Sci. Apr 1999;20(2):89-108. [Medline].

  30. Thami GP, Garg G. Cafe-au-lait macules: are these markers of neoplasia of genetic origin?. Dermatology. 2004;208:234-5. [Medline].

  31. Ward BA, Gutamann DH. Neurofibromatosis 1: From lab bench to clinic. Pediatric Neurology. 2005;32:221-228. [Medline].

 
Previous
Next
 
Axillary freckling showing café au lait spots.
Multiple irregular sized and shaped café au lait lesions.
Café au lait lesions.
Café au lait lesions.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.