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

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SARIHI A.; POURJAFARI H.; GHARAH KHANI M.; SHAHMIRZAI R.; MONSEF A.; SAMADI BAHRAMI Z.; HOUSHMAND M.

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Journal: Avicenna Journal of Clinical Medicine Year:2004 | Volume:10 | Issue:SUPPLEMENT 4 Page(s): 69-74

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Title

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

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Keywords

CUTIS LAXA -DIAGNOSISQ4

CUTIS LAXA - CONGENITALQ4

Abstract

Congenital cutis laxa (CCL) is a very rare disorder with hanging skin, giving the appearance of premature aging. The genetic, physiologic and clinical aspects of a 13-year-old girl affected with CCL were examined. Pedigree pattern study, cardiovascular and respiratory parameters assessment were performed. Cell culture of blood cells and skin fibroblast also were done. In addition karyotyping and detection of mitochondrial 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-DNAmutation. 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.

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APA: Copy

SARIHI, A., POURJAFARI, H., GHARAH KHANI, M., SHAHMIRZAI, R., MONSEF, A., SAMADI BAHRAMI, Z., & HOUSHMAND, M.. (2004). 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. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), 10(SUPPLEMENT 4), 69-74. SID. https://sid.ir/paper/357186/en

Vancouver: Copy

SARIHI A., POURJAFARI H., GHARAH KHANI M., SHAHMIRZAI R., MONSEF A., SAMADI BAHRAMI Z., HOUSHMAND M.. 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. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES)[Internet]. 2004;10(SUPPLEMENT 4):69-74. Available from: https://sid.ir/paper/357186/en

IEEE: Copy

A. SARIHI, H. POURJAFARI, M. GHARAH KHANI, R. SHAHMIRZAI, A. MONSEF, Z. SAMADI BAHRAMI, and M. HOUSHMAND, “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,” AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), vol. 10, no. SUPPLEMENT 4, pp. 69–74, 2004, [Online]. Available: https://sid.ir/paper/357186/en

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