Generalized lentiginosis with strabismus

초록

A 38-year-old Korean woman visited the Dermatology Department of Korea University Medical Center with her son and daughter in January 2001. The patient was a healthy individual with numerous brownish to black-colored macular lesions particularly abundant on her face, but also present in large numbers on her trunk, extremities, buttocks, and lips (Fig. 1). The soles of the feet and the palms showed fewer numbers of macular lesions, and the oral mucosa, genital mucosa, and conjunctiva of each eye were not involved. She recalled the beginning of lentiginosis as being around the age of 3 years. A few lentigines were present initially, and their number and darkness increased with increasing age. On physical examination, she showed a normal heart beat without a murmur, normal sexual development, and normal growth pattern. Strabismus was observed, and the ratio of the distance between the inner canthi to the biorbital distance was 2.75, i.e. hypertelorism by definition (ratio of less than 2.85). The results of laboratory evaluations, including complete blood cell count, serum chemical profile, urine analysis, chest X-ray examination, electrocardiography, and audiography, were all negative or within normal limits. Biopsy of pigmented lesions from both the sun-exposed area (face) and the non-sun-exposed area (trunk) was performed. Both revealed elongation of the rete ridges, increased numbers of melanocytes at the rete ridges, and occasional melanophages in the papillary dermis. No nevus cells or nests of melanocytes were present (Fig. 2). These findings were thought to be characteristic of lentigo simplex. Her 9-year-old son showed the same skin lesions as his mother (Fig. 3). The numbers of lentigines were fewer and the distribution was sparser. On physical examination, he did not normal limits. His audiography did not show any evidence of sensorineural defects. Biopsy of pigmented lesions from the sun-exposed face and non-sun-exposed trunk showed the findings of lentigo simplex. The pedigree (Fig. 4) showed that her father, her three brothers and three sisters, and her son had the same cutaneous findings. Her father had strabismus, but did not have any other abnormalities before he died from an accident. Her younger brother died of measles when he was 7 years old. Part of the facial lesions in the patient and her son were removed by laser for cosmetic purposes.

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