Acrogeria / 대한피부과학회지

ABSTRACT

We report a case of a 41-year-old female with acrogeria. She was in good health except for the prominent atrophy over the hands and feet. On microscopic examination of a biopsy specimen from the atropl6c skin, elastic fibers were clumped and fragmented. Electronmicroscopy revealed amorphous and granulous pseudoelastin, which is presumed to be consistent with acrogeria. Our patient had acro-osteolysis and an extra chromosome in addition to the normal 23 pairs of chromosomes in one of 20 cells examined, which have been very rarely reported in the literature. Further studies are needed to find out whether this chromosomal aberration might contribute to the pathogenesis.