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Autosomal recessive form of congenital cutis laxa: more than the clinical appearance.
Pediatr Dermatol. 2002 Sep-Oct; 19(5):412-4.PD

Abstract

Congenital cutis laxa is an uncommon disorder of generalized elastolysis. The clinical picture is characterized by inelastic, loose, hanging skin that gives the appearance of premature aging. The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form. There is often systemic organ involvement in patients with the autosomal recessive form. Cardiopulmonary abnormalities are common and mainly determine the prognosis and life expectancy. Pulmonary emphysema, cor pulmonale, and right-sided heart failure generally caused by pulmonary disease are often seen in infancy. Various cardiovascular abnormalities including aortic aneurysm, pulmonary artery multiple branch stenosis have been reported in patients with this form of congenital cutis laxa. We report a 10-month-old boy with the autosomal recessive form of congenital cutis laxa who had pulmonary valve stenosis. To the best of our knowledge, this is the first case of this association to be reported in the English language literature. We also emphasize the systemic complications that may be associated with congenital cutis laxa.

Authors+Show Affiliations

Departments of Pediatrics, Hacettepe University, Ihsan Dogramaci Childrens Hospital, Ankara, Turkey. nandiran@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12383097

Citation

Andiran, Nesibe, et al. "Autosomal Recessive Form of Congenital Cutis Laxa: More Than the Clinical Appearance." Pediatric Dermatology, vol. 19, no. 5, 2002, pp. 412-4.
Andiran N, Sarikayalar F, Saraçlar M, et al. Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. Pediatr Dermatol. 2002;19(5):412-4.
Andiran, N., Sarikayalar, F., Saraçlar, M., & Cağlar, M. (2002). Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. Pediatric Dermatology, 19(5), 412-4.
Andiran N, et al. Autosomal Recessive Form of Congenital Cutis Laxa: More Than the Clinical Appearance. Pediatr Dermatol. 2002 Sep-Oct;19(5):412-4. PubMed PMID: 12383097.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. AU - Andiran,Nesibe, AU - Sarikayalar,Fikriye, AU - Saraçlar,Muhsin, AU - Cağlar,Melda, PY - 2002/10/18/pubmed PY - 2003/5/9/medline PY - 2002/10/18/entrez SP - 412 EP - 4 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 19 IS - 5 N2 - Congenital cutis laxa is an uncommon disorder of generalized elastolysis. The clinical picture is characterized by inelastic, loose, hanging skin that gives the appearance of premature aging. The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form. There is often systemic organ involvement in patients with the autosomal recessive form. Cardiopulmonary abnormalities are common and mainly determine the prognosis and life expectancy. Pulmonary emphysema, cor pulmonale, and right-sided heart failure generally caused by pulmonary disease are often seen in infancy. Various cardiovascular abnormalities including aortic aneurysm, pulmonary artery multiple branch stenosis have been reported in patients with this form of congenital cutis laxa. We report a 10-month-old boy with the autosomal recessive form of congenital cutis laxa who had pulmonary valve stenosis. To the best of our knowledge, this is the first case of this association to be reported in the English language literature. We also emphasize the systemic complications that may be associated with congenital cutis laxa. SN - 0736-8046 UR - https://www.unboundmedicine.com/medline/citation/12383097/Autosomal_recessive_form_of_congenital_cutis_laxa:_more_than_the_clinical_appearance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0736-8046&date=2002&volume=19&issue=5&spage=412 DB - PRIME DP - Unbound Medicine ER -