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Case Reports
, 5 (3), 205-208

Autopsy Findings and Clinical Features of a Mild-Type Xeroderma Pigmentosum Complementation Group A Siblings: 40 Years of Follow-Up

Case Reports

Autopsy Findings and Clinical Features of a Mild-Type Xeroderma Pigmentosum Complementation Group A Siblings: 40 Years of Follow-Up

Taro Masaki et al. JAAD Case Rep.


No abstract available

Keywords: XP, xeroderma pigmentosum; autopsy; forty years of follow-up; mild-type XP-A.


Fig 1
Fig 1
Microscopic features of the cerebral cortex (B, C, E) and substantia nigra (G) of the patient (XP4KO), with reference to those of an age-matched control (A, D, F). The thickness of the cerebral cortex is apparently thin (B, C), and individual neurons (yellow arrow) are small (E). In the substantia nigra pars compacta, neurons are small in size with poor accumulation of melanin pigments (G). (A, B, D-G, Hematoxylin-eosin stain; C, Klüver–Barrera stain; original magnifications: A-C, ×10; F and G, ×400; D and E, ×200.)
Fig 2
Fig 2
Severity indices of the current cases are plotted in comparison with those of patients with XP-A with homozygous Japanese XPA founder mutation, IVS3-1G>C. Horizontal axis indicate years and vertical axis indicates severity scores. Scores in swallowing are: 0, normal; 1, infrequent choking; 2, occasional choking; 3, require soft food; 4, requires nasogastric or gastrostomy tube. Scores in walking are: 0, normal; 1, mild difficulty; 2, moderate difficulty, but require little or no assistance; 3, severely disturbed walking, requiring assistance; 4, cannot walk at all, even with assistance. Scores in intellectual impairment are: 0, normal; 1, mild (consistent impairment with partial recollection of events, but with no other difficulties); 2, moderate difficulty handling complex problems; 3, severe impairment with problems; 4, unable to make judgments or solve problems. Scores in motivation are: 0, normal; 1, lacking energy, does not restrict activities; 2, lacking energy, restricts hobbies and interests; 3, lacking energy, restricts routine activities; 4, unable to perform any task. Yellow triangle indicates XP4KO, red circle indicates XP5KO.

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