5. 20 Years Old Male with Multiple Hyperpigmented Macules on Trunk

Pawan Kumar¹

(1)

Kempegowda Institute of Medical Sciences, Bengaluru, India

Pawan Kumar

Keywords

Café-au-lait maculeHyperpigmentationNeurofibromatosisMc-cune Albright syndrome

A 20 year old male presented with multiple hyperpigmented macule over trunk. He noticed it within first year of life after that it gradually increased in size in proportion to development. They are asymptomatic. There was no history of any other systemic complain. On examination he had five to six dark brown pigmented round to oval shaped sharply demarcated patch over right side of trunk (Fig. 5.1). Two macules were 3–4 cm in size while others were smaller. The lesions were uniformly hyperpigmented. Underlying soft tissue and appendages were normal. No other skin lesions were present. Based on this clinical information what is your diagnosis?

(a)

Becker’s Nevus
(b)

Café-au-lait macule
(c)

Congenital melanocytic nevus
(d)

Nevus spilus

../images/471276_1_En_5_Chapter/471276_1_En_5_Fig1_HTML.jpg — Figure 5.1

Five to six uniformly pigmented macules of variable size on trunk

Diagnosis

Café-au-lait macule

Discussion

Café au lait macules (CALM) are localized epidermal melanocytic flat lesions, named after their typical coffee-and-milk hue. These are caused by an increase in melanin content, often with the presence of giant melanosomes. Café au lait macules (CALMS) are commonly noticed in childhood. In neonates, solitary CALMs may occurs in 0.3% of caucasians and 18% of African-Americans while in childhood it occurs in 13% of whites and 27% of blacks. At birth, a single CALM is observed in 5% of Caucasians. Three or more spots are observed in 2% of the population [1]. They often represent benign birthmarks but, however, they may also be markers of some systemic diseases.

Café-au-lait macules are round or oval shaped light to dark brown in colored macule with well demarcated smooth or irregular border. The pigment is evenly distributed. They can occur anywhere over the body, but individual lesions are more prevalent on unexposed skin. They are of varying sizes ranging from 2 mm to 20 cm, but usually under 2 cm in diameter [2]. There are two main types of CALMs. The most common type has fairly regular and clearly demarcated margins (“coast of California”). It is usually solitary/multiple and smaller in size. The second type is less frequent type of CALM that has a much more irregular margin (“coast of Maine”), and is usually larger and solitary. The distribution and configuration of café-au-lait macules can be a clue to an underlying syndrome.

CALMs may occur as isolated findings, or may be associated with minor and/or major congenital anomalies, as part of many syndromes. Multiple café-au-lait spots were observed in cancer predisposing syndromes (Table 5.1) like neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis, McCune-Albright syndrome, Fanconi anemia, LEOPARD syndrome, epidermal nevus syndrome, Bloom syndrome, ataxia-telangiectasia, and Silver–Russell syndrome [3]. More recently, café-au-lait spot were observed in 60% of carriers of biallelic mutations in mismatch repair (MMR) genes, characteristic of constitutional mismatch repair deficiency syndrome (CMMRDS) [4].

Table 5.1

Diseases associated with café-au-lait spots

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