Giant Café‐au‐lait Macule in Neurofibromatosis Type 1

To the Editor: Café-au-lait macules (CALMs) are discrete, well circumscribed, round or oval, uniformly pigmented patches. Despite the analogy of the color to coffee with milk, the pigmentation varies from light to dark brown (1). Solitary CALMs are common findings seen in up to one-third of normal children. On the other hand, multiple CALMs are rare. When present, a diagnosis of multiple-organ disorder, the most common being neurofibromatosis type 1 (NF-1), should be considered. CALMs are multiple in 90% of patients with NF-1 (2). They occur at birth, increase in number until four years, and are distributed randomly over the body, with relative sparing of the face. They vary in size from 2 to 15 mm. We, however, had a case of NF-1 with a giant CALM, which is being reported here for its rarity. Case Report: A 16-year-old male presented at our dermatologic clinic with an asymptomatic hyperpigmented patch covering almost the whole of the back. The lesion had been present since birth and had increased in its size in proportion to his physical growth. He also had multiple nodules over the body, which were first noted three years previously. Since then, these nodules have gradually increaed in size and number. He had no systemic complaints. His father, brother, and sister were affected by a similar disorder. On cutaneous examination, he had a 54 cm × 39 cm, brownish café-au-lait macule on the dorsal aspect of his torso extending from the occipital region of the scalp to the lumbar area and spanning the whole width of the trunk (Fig. 1). The patch also extended anteriorly to involve the upper chest. The margin of the lesion was irregular, and the surrounding skin had well circumscribed brownish, multiple, café-aulait macules. In addition, cutaneous and subcutaneous neurofibromas were distributed over his trunk and limbs. The presence of palmar, plantar, and axillary freckling (Crowe’s sign) substantiated our clinical diagnosis of NF-1. There were no ocular or bony abnormalities. His family members had NF-1, but none had giant CALM. Histopathological examination of a representative part of the giant CALM (trunk) revealed increased pigmentation of the basal cell layer, extending at places to the stratum spinosum layer. The dermis was unremarkable. These findings were consistent with the diagnosis of CALM for the giant pigmented macule over the trunk. Comments: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, classic neurofibromatosis, or peripherThe Journal of Dermatology Vol. 28: 60–61, 2001