Freckles
Introduction
Freckles or
ephelides are very common and first appear at about the age of 5 years as light‐brown
pigmented macules on sun‐exposed areas of the skin of fair‐skinned
individuals. Freckles appear or darken during periods of UV exposure. Freckling
is significantly associated with certain polymorphisms of the melanocortin 1
receptor gene, the major freckle gene and is transmitted in an autosomal
dominant fashion.
Pathophysiology
Exposure to UV radiation leads to
overproduction of melanin by melanocytes, which is subsequently transferred to neighboring
keratinocytes. Freckles could be considered a hyperactive response of
melanocytes to UV radiation in predisposed individuals.
Pathology
There is no increase in the number of melanocytes in the
pigmented macules but their melanosomes are long and rod-shaped, like those
found generally in dark-skinned people. They form melanin more rapidly after
exposure to sunlight than do those in the surrounding pale skin. With the light
microscope, the only abnormality detectable is an increase in the quantity of
melanin in the epidermis.
Environmental
factors
UV
exposure is responsible for the exacerbated pigment production by melanocytes
that results in the development of freckles.
Clinical
features
Freckles typically appear after
excessive sun exposure (either chronic or intermittent) in fair‐haired individuals. They present as round
or oval hyper pigmented macules with ill‐defined borders, usually measuring 2–4 mm in size. They
are most numerous on the face, upper back, and dorsal forearms and hands. They
increase in number, size and depth of pigmentation during the summer months and
are smaller, lighter and fewer in number in the winter or even disappear. They
may be cosmetically disfiguring.
Differential
diagnosis
Freckles
and solar lentigines are generally viewed as a response to sun exposure – solar
lentigines to a greater extent – and both confer an increased risk for melanoma
and epithelial skin cancers. They are distinguished from each other by the fact
that lentigines persist even without UV exposure, and tend to appear more
frequently in older ages. In addition, lentigines are histologically
characterized by an increased number of epidermal melanocytes.
Disease
course and prognosis
Freckles
are benign lesions and often fade with age.
Treatment
No treatment is required. Application of 2–4%
hydroquinone with a UVA-blocking sunscreen in the morning and retinoic acid in
the evening produces significant lightening in most freckles. Alternatively,
they are amenable to removal by laser or chemical
peels.