|Year : 2021 | Volume
| Issue : 3 | Page : 274-279
Sushrut Save1, Resham Vasani2
1 Department of Dermatology, Dr. Save's Clinic, Mumbai, Maharashtra, India
2 Department of Dermatology, Bhojani Clinic, Mumbai, Maharashtra, India
|Date of Submission||02-May-2021|
|Date of Decision||09-May-2021|
|Date of Acceptance||16-May-2021|
|Date of Web Publication||30-Jun-2021|
Department of Dermatology, Bhojani Clinic, Matunga, Mumbai, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Save S, Vasani R. Café-au-lait Macules. Indian J Paediatr Dermatol 2021;22:274-9
| Introduction|| |
What are Café-au-lait Macules?
Café-au-lait macules (CALMs) are discrete, well circumscribed, round, or oval, uniformly pigmented macules or patches ranging from light to dark brown. They may appear at birth or early childhood and vary in size from a few millimeters to several centimeters. They can occur anywhere on the body, but the most common location is the trunk or extremities. The term “Café-au-lait” is French for “coffee with milk.” 2%–3% of all healthy newborns and one third of young children have at least one CALM sporadically.
What is the pathogenesis of Café-au-lait macules?
Cafe-au-lait macules are characterized by a localized area of an increase in melanin content. A significant increase in melanocyte density and presence of giant melanosomes is noted in the CALMs of patients with NF1 and Noonan syndrome with multiple lentiginosis as compared to patients who have isolated CALMs without NF1 involvement. However, the presence of these giant melanosomes is not unique and can also be seen in the unaffected skin of adults who have NF1 and occasionally seen in normal skin of healthy individuals.
Certain theories suggest that the hyperpigmentation may be due to an abnormal expression of growth factors such as stem cell factor and hepatocyte growth factor, more so with NF1 associated CALMS than non-NF1 CALMs.
When does one suspect Café-au-lait macules to be pathological?
Number of CALMs – The frequency and number of the CALMs vary in the general population according to the ethnic background and age. Frequency of having at least one CALM has been reported to be 13% in Caucasians and 27% of Afro Americans.
[Table 1] gives a broad outline on the approach to the CALMs according to the ethnicity of the patient.
|Table 1: Approach to café- au-lait macules considering ethnicity of the patient|
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Solitary CALMs are usually not associated with any syndromes and be inherited as autosomal dominant trait., Multiple CALMs may indicate an underlying genetic disorder. Since the frequency of having >6 CALMs in normal individuals is <0.1%, this number of spots with size >0.5 cm in the prepubertal age and >1.5 cm in the post pubertal age is considered as cutoff for the diagnosis of NF1.
How does the morphology of Café-au-lait macule help in the diagnosis?
Typical CALMs are defined as those with uniform pigmentation and distinct regular borders resembling 'Coast of California' [Figure 1] whereas atypical CALMs are defined as those with nonhomogeneous pigmentation and indistinct, irregular borders resembling 'Coast of Maine' [Figure 2]. The pattern of Coast of Maine is seen on a segmental pigmentary disorder, while the pattern of Coast of California is seen in NF1 and other related conditions.
|Figure 1: Typical uniformly pigmented macule with regular borders of the Café-u-lait macule associated with neurofibromatosis I. Cutaneous neurofibroma seen in vicinity|
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|Figure 2: Atypical Café-u-lait macule with nonhomogeneous pigmentation and irregular indistinct borders|
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What are the conditions associated with multiple Café-au-lait macules?
Important conditions that have CALMs as a cutaneous manifestation are enumerated in [Table 2].
What is the differential diagnosis of a Café-au-lait macule?
The primary differential diagnosis for CALMs includes other epidermal melanocytic lesions such as-Ephelides, Lentigines, Becker's Nevus and other conditions such as Congenital Melanocytic Nevus, Pigmentary mosaicism, Postinflammatory hyperpigmentation, Nevus Spilus and Urticaria pigmentosa.,
What are the dermoscopic and histopathological features of Café-au-lait macules?
Dermoscopy reveals homogeneous light brown background pigmentation along with a reticulate brown pigment network. Early CALMS, which are usually light-colored, show focal thickening of the pigment network , giving the appearance of tiny arcuate lines. Later on, in the darker CALMs, the pigment network lines become uniformly thickened and the appearance is often referred to as a “snail-track” pattern.
Histopathologically, CALMs are caused due to increased melanin in melanocytes and basal keratinocytes., There are little or no melanophages in the upper and deep dermis. The syndromic patients often show more DOPA positive melanin macroglobules in melanocytes, keratinocytes and dermal melanophages in lesional skin, while the patients with sporadic CALMS show decreased DOPA + melanocytes within lesion. However, these melanin macroglobules have been demonstrated in nevocellular nevi, lentigo simplex, nevi spili, and normal epidermis and hence it lacks specificity for diagnosis.
What should be the approach to a child presenting with multiple cafe u lait spots?
Key clues to the diagnosis are-patient age, CALM morphology, anatomic localization, family history, and other comorbidities. An approach to the patient presenting with multiple CALMS is outlined in the [Flowchart 1].
What is the treatment of Café-au-lait macules?
Café-au-lait macules do not have any reported malignant transformation, and hence treatment is usually not required unless for cosmetic purposes, especially in patients who may have a large CALM, particularly on the face. There is no particular medical treatment available for CALMs, and generally they are difficult to treat, albeit partial clearance may be achieved with laser treatment. The Q-switched ruby laser, 1064-nm frequency-doubled Q-switched neodymium: yttrium–aluminum–garnet laser, Q-switched alexandrite laser, erbium: YAG laser, copper vapor laser, and 510 nm pulsed-dye laser may be used. However, multiple sittings are required and recurrences are quite common.,,
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]
[Table 1], [Table 2]