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Thread: Cafe Au Lait Spot images - Pediatric Atlas

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    Default Cafe Au Lait Spot images - Pediatric Atlas

    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.

    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.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.
    Attachment 1755

    No reports indicate that café au lait macules undergo malignant change. Café au lait macules are benign and produce no mortality or morbidity, although the associated syndromes may have significant manifestations.

    Café au lait spots are flat lesions that are typically the color made by adding milk to coffee. They may vary in size from a few millimeters, as in axillary freckling, to large macules that measure more than 10 cm in size.

    Large, solitary café au lait macules are larger than 0.5 cm. They are found more commonly on the buttocks than any other anatomical location. No other physical findings or syndromes are usually related to solitary CAL spots.

    Axillary freckling (known as Crowe sign) and inguinal freckling are characteristic diagnostic features of NF1.

    Plexiform neurofibromas may underlie café au lait macules in NF1. These are large fibrous swellings of the subcutaneous tissue that may cause severe disfigurement of the face or limbs.

    Laboratory Studies
    The presence of multiple café au lait macules (CALMs) should prompt a search for features suggestive of an underlying genetic disorder. Early diagnosis and genetic testing/counseling are important because of the genetic transmission of the underlying systemic disorders, if one is present. Genetic testing is available for the diagnosis of neurofibromatosis type 1 (NF1)–associated CALMs.

    Histologic Findings
    Hyperpigmentation of basilar keratinocytes is noted. Giant melanosomes may be present within keratinocytes.

    Medical Care
    Café au lait macules (CALMs) do not require medical care. When café au lait spots are associated with neurofibromatosis (NF) or another underlying condition, monitoring of associated conditions is required.

    Although treatment of these lesions is not necessary, several lasers have been used to treat café au lait macules with variable responses. The lasers that have been used to treat café au lait macules include PDL, Er:YAG, QS Nd:YAG, QSRL, and QSAL. The risks of the procedures must be discussed with the patient and the family. The risks of laser surgery include transient hyperpigmentation, hypopigmentation, slight scarring, permanent hyperpigmentation, and recurrence.
    Attachment 1754

    The data for the use of repeated Q-switched laser treatments are not consistent, with approximately 50% experiencing total clearance and with the other half developing recurrence and patchy pigmentation. The reported responses to frequency-doubled Nd:YAG vary. One patient was treated with the Er:YAG and achieved almost complete clearance of the café au lait macules.In one study, complete clearance of 34 café au lait macules was reported using a pulsed dye laser for 4-14 treatments, with no recurrences at 12 months follow-up.

    In 2012, Wang et al treated 48 Chinese patients with the Q-switched alexandrite laser and found that 26 patients (51.4%) had good-to-excellent responses after an average of 3.2 treatments with a low rate of recurrence (10.4%). The results are usually favorable, and when substantial clearing is achieved, the recurrence rate is low; however, where clearance is partial, recurrence is as high as 50%. The risk of postinflammatory hyperpigmentation is as high as 50% per treatment. When this develops, it is essential to wait until it clears before resuming laser treatment.


    Last edited by Medical Photos; 09-01-2015 at 08:46 PM.

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