PMC9174787_01
A pedigree showing phenotypes of the family. Three family members were genotyped for KIT mutation. Affected men and women are indicated by filled squares and circles, respectively. A crossed symbol indicated a deceased individual due to urenia. An arrow head indicates the proband. wt, wild type; G > C, heterozygote of c.2485G > C.
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F1
The patient had a family history that his father, grandfather, aunt, and cousin had similar symptoms (Figure 1).
Clinical presentation of the proband showing hyperpigmentation and multiple lentigines on face, neck, back, and inguinal areas.
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F2
Physical examination revealed hyperpigmentation with a dark brown spot and lentiginous-like lesions on his face, neck, vermillion of the lip, inguinal region, natal cleft, hands, and feet (Figure 2).
Hematoxylin-eosin staining of the biopsy specimen from the proband (bar = 250 mum). Increased melanin production from the basal layer to the spinous layer of the epidermis, lentiginous hyperplasia of melanocytes along the basal layer, and melanophages in the superficial dermis could be seen.
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F3
Lentiginous hyperplasia of melanocytes along the basal layer and melanophages in the superficial dermis could be observed (Figure 3).