In:
The Journal of Dermatology, Wiley, Vol. 41, No. 12 ( 2014-12), p. 1047-1052
Abstract:
Atypical progeroid syndrome ( APS ), including atypical W erner syndrome ( AWS ), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C . We report the first J apanese case of APS / AWS with a LMNA mutation (p.D300N). A 53‐year‐old J apanese man had a history of recurrent severe cardiovascular diseases as well as brain infarction and hemorrhages. Although our APS / AWS patient had overlapping features with W erner syndrome ( WS ), such as high‐pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS , including short stature, premature graying/alopecia, cataract, bird‐like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent. In immunofluorescence staining and electron microscopic analyses of the patient's cultured fibroblasts, abnormal nuclear morphology, an increase in small aggregation of heterochromatin and a decrease in interchromatin granules in nuclei of fibroblasts were observed, suggesting that abnormal nuclear morphology and chromatin disorganization may be associated with the pathogenesis of APS / AWS .
Type of Medium:
Online Resource
ISSN:
0385-2407
,
1346-8138
DOI:
10.1111/jde.2014.41.issue-12
DOI:
10.1111/1346-8138.12657
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
2222121-9
Permalink