Journal of Advanced Clinical & Research Insights (2014), 1, 106–107
CASE REPORT
Café au lait spot: Case report
L. S. Vagish Kumar
Department of Oral Medicine and Radiology, Yenepoya Dental College and Hospital, Yenepoya Research Centre, Yenepoya University, Mangalore, Karnataka, India
Keywords
Café au lait spots, macule, neurofibromatosis,
pigmentation
Correspondence
L. S. Vagish Kumar, Department of Oral
Medicine and Radiology, Yenepoya
Dental College and Hospital, Yenepoya
Research Centre, Yenepoya University,
Mangalore - 575 018, Karnataka,
India. Mobile: +91-8147810947,
Email: [email protected]
Abstract
Café au lait spots (CALS) are pigmented lesions found in various genetic disorders. They
also occur in normal populations. Identifying and having knowledge about CALS may
help in early detection of associated diseases and genetic disorders, thereby facilitating
the prevention of their late manifestations. The article reviews CALS with an example of
a case that occurred in an adult patient.
Received 07 June 2014; Accepted 22 July 2014
doi: 10.15713/ins.jcri.27
Introduction
Discussion
Café au lait spots (CALS) or café au lait macules are birthmarks
that are pigmented.[1] The word café au lait which has its origin
from French, literally means “coffee with milk” because of their
light-brown color. If these pigmentations have oval and smooth
borders they are called as “coast of Maine spots,” alternatively
if they exhibit jagged borders they are referred to as “coast
of California spots.” Clinically they are evidenced by wellcircumscribed, regularly pigmented macules or patches that have
a diameter ranging from 1-2 mm to >20 cm in longest diameter.
Smooth borders are typical of neurofibromatosis-1 (NF1) and
jagged borders may point out at McCune-Albright syndrome.
Histologically CALS shows increased melanin content of
melanocytes and basal keratinocytes.[2]
Café au lait pigmentations are observed clinically in genetic
diseases like NF1 Type I, McCune-Albright syndrome and
Noonan’s syndrome. They typically are of tan or brown color
with irregularly shaped macules of different sizes. They may
occur in any region of the skin.[3] 85% of neurofibromas present
with CALS. In general, CALS are flat, discrete, and light-brown
in color, with clearly defined margins. The color of margins
resembles that of the immediate adjacent skin. CALS usually
exhibit borders with regular outline, though greater sized CALS
may have irregular borders. Typical lesions characteristically
are of 2-5 cm diameter, although it can be as high as 15 cm in
patients with neurobromatosis.[4]
Solitary CALS are common in infants and children, but multiple
such spots are very rare, and 6 or more spots >0.5 cm may be typical
of Type 1 NF1.[5] Diagnostic criteria for NF1 other than CALS
includes freckling of skin folds, Lisch nodules, neurofibromas,
skeletal dysplasia, optic glioma and affected first degree relative with
NF1.[6] Reaching an early final diagnosis of NF1, which is the most
common disorder with multiple CALS is crucial. Patients especially
children have high risk of developing malignant diseases such as
malignant schwannoma, myeloid disorders, rhabdomyosarcoma
and Wilms’ tumor. Significant amount of cases with CALS are
within 2 cm in diameter. CALS is more prevalent on unexposed
Case Report
A 35-year-old patient with diagnosed NF1 presented with
multiple CALS and neurofibromas throughout the body
[Figure 1]. No history of seizures or mental retardation. The
lesions were around 1 cm × 2 cm [Figure 2]. No skeletal and
neurological abnormalities were present. Macules were flat
with the color of brownish-white. They exhibited well-defined
borders, and color was uniform throughout the lesion.
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Journal of Advanced Clinical & Research Insights ● Vol. 1:3 ● Nov-Dec 2014
Kumar
Figure 1: Patient exhibiting neurofibromatosis-1 lesions. Note the
café au lait spots in the lower part of the neck on right side
Café au lait spots
spots may strongly hint the presence of an associated/underlying
neuroectodermal disorder, for example-NF1. A diagnosis of
neuroectodermal dysplasia should be confidently formulated if
there are more than five such spots. In the first 5-6 years of a child,
skeletal and visceral manifestations of NF1 are occasional before
the appearance of classical tumors. Hence one can vehemently
conclude that observance of occasional pigmentation may be the
only clue to accurate diagnosis and appropriate treatment in such
child patient with no other obvious manifestation of this disease.[8,9]
Johnson et al. reported more 3,4-dihydroxyphenylalanine
(DOPA) positive melanocytes in CALS of NF1 patients than
the surrounding skin. Also, these melanocytes contained giant
pigmented granules. CALS in normal patients showed fewer
DOPA positive melanocytes than the surrounding skin. But
these melanocytes did not contain giant pigmented granules.
They concluded that presence of giant granules and increased
melanocytes in CALS is helpful in the diagnosis of NF1 when
pigmented macules are the only manifestation.[10]
Conclusion
Every medical, dental and health practitioners should be
thoroughly aware of CALS and be able to diagnose this pigmented
lesion and the diseases associated with them. This will have a
great impact on prognosis and prevention of the development of
complications of lesions/diseases associated with CALS.
References
Figure 2: An individual café au lait spots
skin and are found on the trunk, buttocks, and lower limbs. Head,
neck, and upper extremities are usually spared. Multiple smaller
“freckle-like” CALS in the axillary or inguinal region if found are
known as Crowe’s sign. Multiple small CALS in the perioral region,
Torok’s sign, are observed less frequently. Differential diagnosis
includes McCune-Albright syndrome, Silver-Russell dwarfism,
Watson’s syndrome, and multiple lentigines syndrome.[7]
Crowe’s sign and Lisch nodules are highly characteristic of
NF1 Type I. Lisch nodules are nothing, but pigmented lesions
of the iris. Noonan’s syndrome and allelic LEOPARD syndrome,
which are autosomal dominant disorders, also show pigmented
mucocutaneous macules. The classic appearing CALS are
characteristically seen in Noonan’s phenotype. LEOPARD
phenotype is typically associated with numerous small freckles
like macules often involving the skin of the face.[3] Therapy are
not usually indicated. However, a variety of options are available,
including laser surgery.[7]
The significance of CALS, especially in children should be
well appreciated. A normal healthy child below the age of five
rarely exhibits multiple CALS. Hence, presence of such multiple
Journal of Advanced Clinical & Research Insights ● Vol. 1:3 ● Nov-Dec 2014
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How to cite this article: Kumar LSV. Café au lait spot: Case
report. J Adv Clin Res Insights 2014;3:106-107.
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