PMC5309409_01
(a) Pedigree chart of the patient. The arrow indicates the index patient. Filled squares indicate affected individuals. (b) Photographs of the patient showing alopecia, freckle-like skin lesions, and actinic keratosis in sun-exposed areas. (c) Cerebral MRI showing parenchymal volume loss, cerebellar atrophy, and white matter gliosis.
CRIM2017-7162737.002.jpg
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The family history revealed similar recurrent skin cancers in 2 cousins on the maternal side of the family, who died at ages 8 and 12 years (Figure 2(a)). The physical exam revealed short stature (height: 133 cm) (<2 SD), microcephaly (head circumference: 47.5 cm) (<2 SD), low weight (26 Kg), intellectual disability, altered speech, ataxic gait, and hyperreflexia, accompanying the skin findings: alopecia, freckle-like skin lesions, actinic keratoses sparing unexposed areas, and marked skin atrophy in eyelids and around the mouth (Figure 2(b)). Spine MRI revealed a normal spinal cord and cerebral MRI showed parenchymal volume loss, cerebellar atrophy, and white matter gliosis (Figure 2(c)).