eMedicine Specialties > Dermatology > Photo-Related Diseases
Ephelides (Freckles)
Updated: Jan 12, 2007
Introduction
Background
Ephelides are tanned macules found on the skin. They are usually multiple in number. With sun exposure, they become more apparent; therefore, in the winter months, they are often imperceptible. Although ephelides are predominantly benign, they may be seen in association with systemic disease.
Pathophysiology
Individuals who are genetically susceptible may have somatic mutations in epidermal melanocytes that promote increased melanogenesis. Melanocytes are not increased in number, and they may even be decreased in number. With UV-A and UV-B exposure, the dopa reaction is increased, leading to the production of larger melanosomes, which produce the clinical picture.
Frequency
International
In the United States and worldwide, ephelides may be found in varying degrees in most, if not all, individuals. They are more pronounced in individuals living in temperate climates.
Mortality/Morbidity
- Ephelides have an impact on cosmesis and are not associated with increased mortality.
- Mortality may be increased in diseases associated with ephelides, such as xeroderma pigmentosum.
Race
Ephelides are more common in fair-skinned and red- or blond-haired white persons than in individuals of other races.
Sex
Ephelides are distributed equally between the sexes.
Age
Commonly, ephelides first appear at age 2 years and increase in number into young adulthood. In older ages, the number usually decreases.
Clinical
History
- Ephelides present during childhood as scattered areas of increased pigmentation, mainly limited to body regions above the waist.
- The macules are asymptomatic, more numerous on sun-exposed areas, and fade and become smaller in the winter.
Physical
- Simple ephelides are multiple, small, tanned macules, ranging from 1-5 mm in diameter, with uniform pigmentation.
- They are most commonly found on sun-exposed areas, such as the nose, the cheeks, the shoulders, and the upper part of the back.
- The macules may be discrete or confluent.
- Sunburn freckles present similarly to that of simple freckles, but they are darker, have irregular borders, and may be as large as a few centimeters.
Causes
- Genetic: Freckles tend to be inherited as an autosomal dominant trait. Ephelides are most common in individuals with fair skin and/or with blond or red hair.
- Xeroderma pigmentosum: Freckles are prominent and even dark in heterozygous carriers with this autosomal recessive disease. Excessive freckling in dark-haired individuals suggests the possibility of this disease.
- Environmental: In individuals who are susceptible, sunlight exposure to both UV-A and UV-B radiation induces freckles by stimulating melanocytes to produce melanin.
- Neurofibromatosis: Freckles can be found in the folded regions in individuals with this autosomal dominant condition.
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Overview: Ephelides (Freckles) |
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References
Azizi E, Lusky A, Kushelevsky AP, Schewach-Millet M. Skin type, hair color, and freckles are predictors of decreased minimal erythema ultraviolet radiation dose. J Am Acad Dermatol. Jul 1988;19(1 Pt 1):32-8. [Medline].
Cockerell CJ, Johnson TM, Swanson NA. Melanocytic nevi. J Cutan Med Surg. 1996;2:1561-3.
Holzle E. Pigmented lesions as a sign of photodamage. Br J Dermatol. Sep 1992;127 Suppl 41:48-50. [Medline].
Hurwitz S. Clinical Pediatric Dermatology. 2nd ed. Philadelphia, Pa: WB Saunders; 1993:. 211-2.
Lorincz Al. Disturbances of melanin pigmentation: circumscribed melanoses. Dermatology. 1985;2:1273-7.
McLean DI, Gallagher RP. "Sunburn" freckles, cafe-au-lait macules, and other pigmented lesions of schoolchildren: the Vancouver Mole Study. J Am Acad Dermatol. Apr 1995;32(4):565-70. [Medline].
Nicholls EM. Genetic susceptibility and somatic mutation in the production of freckles, birthmarks and moles. Lancet. Jan 13 1968;1(7533):71-3. [Medline].
Pavlotsky F, Azizi E, Gurvich R, et al. Prevalence of melanocytic nevi and freckles in young Israeli males. Correlation with melanoma incidence in Jewish migrants: demographic and host factors. Am J Epidemiol. Jul 1 1997;146(1):78-86. [Medline].
Rhodes AR, Albert LS, Barnhill RL, Weinstock MA. Sun-induced freckles in children and young adults. A correlation of clinical and histopathologic features. Cancer. Apr 1 1991;67(7):1990-2001. [Medline].
Wilson PD, Kligman AM. Do freckles protect the skin from actinic damage?. Br J Dermatol. Jan 1982;106(1):27-32. [Medline].
Further Reading
Keywords
freckles, xeroderma pigmentosum
Overview: Ephelides (Freckles)