Congenital Cutis laxa

Oku, Teruaki; Nakayama, Fukiko; Imaizumi, Satoshi; Takigawa, Masaharu; Yamada, Miki

doi:10.1159/000248317

Cited by 7 publications

(1 citation statement)

References 6 publications

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“…In contrast, in the autosomal recessive form (ARCCL), the skin lesions, which are usually present at birth, are severe, and pulmonary and cardiovascular involvement is common, which determine the life expectancy and prognosis (6). Although the etiology of CCL is unclear, the histopathology of skin changes suggests that the major abnormality lies in the elastin in both recessive and dominant forms (7–9).…”

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confidence: 99%

Autosomal Recessive Form of Congenital Cutis Laxa: More Than the Clinical Appearance

Andıran¹,

Sarikayalar²,

Saraçlar

2002

Pediatric Dermatology

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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.

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confidence: 99%