Ephelides (Freckles) Clinical Presentation
- Author: Jessica M Scruggs, MD; Chief Editor: Dirk M Elston, MD more...
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.[5]
Causes
Causes are as follows:
- Genetic: Ephelides (freckles) tend to be inherited as an autosomal dominant trait, and first-degree relatives are at higher risk.[6] Ephelides are most common in individuals with fair skin and/or with blond or red hair. The tendency to develop freckles appears to be closely related to the melanocortin 1 receptor (MC1R) gene polymorphisms.[7]
- 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.[8]
- Neurofibromatosis: Freckles can be found in the folded regions in individuals with this autosomal dominant condition.[9] The Crowe sign is specific for axillary freckling and can be a useful diagnostic aid.[10]
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Kawada A, Shiraishi H, Asai M, et al. Clinical improvement of solar lentigines and ephelides with an intense pulsed light source. Dermatol Surg. Jun 2002;28(6):504-8. [Medline].
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Vejjabhinanta V, Elsaie ML, Patel SS, Patel A, Caperton C, Nouri K. Comparison of short-pulsed and long-pulsed 532 nm lasers in the removal of freckles. Lasers Med Sci. Nov 2010;25(6):901-6. [Medline].
Bliss JM, Ford D, Swerdlow AJ, et al. Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE). Int J Cancer. Aug 9 1995;62(4):367-76. [Medline].
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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].
Wilson PD, Kligman AM. Do freckles protect the skin from actinic damage?. Br J Dermatol. Jan 1982;106(1):27-32. [Medline].

