گزارش جنبه هاي مختلف ژنتيكي پارالكنيكي و فيزيولوژيكي يك دختر 13 ساله مبتلا به CUTISLAXA مادرزادي و اهميت آنها در تشخيص زودرس بيماري

Report of Genetic, Paraclinic and Physiological Aspects of a 13-Year-Old Girl with Congenital Cutis Laxa and Their Importance in Early Detection of the Disease

Congenital cutis laxa (CCL) is a very rare disorder with hanging skin, giving the apearance of premature aging. The genetic, physiologic and clinical aspects of a 13-year-old girl affected with CCL were examined. Pedigree patern study, cardiovascular and respiratory parameters assesment were performed. Cell culture of blood cells and skin fibroblast also were done. In addition karyotyping and detection of mitochondria) deletions (mt-DNA) with standard methods were done. The results indicated that this case was affected by autosomal recessive congenital cutis laxa and pathological examinations confirm it. Biochemical and hormonal parameters were normal compared with results of normal populations at the same age. Her karyotype was normal and there was no any mt-DNA mutation. Our study showed that in CCL despite sever skin, and cardiopulmonary involvement normal conditions in other physiological aspects may appear. Also it seems that the best way for early detection of the disease is skin biopsy and study of elastic fibers employing histopathological methods.