Cutis Laxa

Schreiber, Michael M.

doi:10.1001/archderm.1961.01580140092012

Cited by 26 publications

(12 citation statements)

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“…In the kindreds clinical manifestations. described in this paper, and those culled from the Schreiber and Tilley (1961) published an ex-literature, the dominant form of cutis laxa has always tensive pedigree of an affected kindred, in which been benign, with little in the way of systemic there was clear evidence of dominant inheritance. ramifications.…”

Section: Discussionmentioning

confidence: 62%

The dominant and recessive forms of cutis laxa.

Beighton¹

1972

Journal of Medical Genetics

129

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Section: Discussionmentioning

confidence: 62%

The dominant and recessive forms of cutis laxa.

Beighton¹

1972

Journal of Medical Genetics

129

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“…[1][2][3][4][5] The skin may appear loose and redundant, resulting in an appearance older than the patient's actual age. [4][5][6] Affected patients commonly have abnormalities in multiple organ systems, including cutaneous, pulmonary, cardiovascular, gastrointestinal, and urogenital systems. [3][4][5][7][8][9] Clinical changes result from a decrease or disappearance of elastic fibers from the dermis and the internal organs.…”

Section: Sommairementioning

confidence: 99%

“…1,4,6 Cutis laxa also has inherited forms, including both autosomal recessive and dominant forms, and a transient neonatal form. All types show similar clinical and histologic changes.…”

Section: Commentmentioning

confidence: 99%

“…1,3,4,8,9,27 Urogenital involvement may manifest as cystocele or prolapse of the vaginal mucosa or uterus. 6,9,27 Dilation and tortuosity of the ureters and multiple diverticulae of the urinary bladder are common complications. 4,8 Pathology In both congenital and type I acquired cutis laxa, light microscopic examination reveals normal dermal collagen and adnexal structures.…”

Section: Commentmentioning

confidence: 99%

“…7,23,28,29 The remaining elastic fibers are markedly fragmented, granular or clumped, and of variable orientation and diameter. 3,4,6,7,9,14,23,28,29 The preelastic fibers, oxytalan and elaunin, are undetectable, and the microfibrillar component of elastic fibers is reduced. 30,31 Electron microscopy confirms the degenerative changes in the elastin fibers.…”

Section: Commentmentioning

confidence: 99%

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Generalized Cutis Laxa Associated with Heavy Chain Deposition Disease

Tan

Pon

Bargman

et al. 2003

Journal of Cutaneous Medicine and Surgery: Incorporating Medica

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A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa

Rodríguez‐Revenga¹,

Iranzo²,

Badenas³

et al. 2004

Arch Dermatol

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Background: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa.Observations: A 45-year-old woman and her 19-yearold son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analy-sis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3Јuntranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence. Conclusion:This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.

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Cutis Laxa

Cited by 26 publications

References 0 publications

The dominant and recessive forms of cutis laxa.

The dominant and recessive forms of cutis laxa.

Generalized Cutis Laxa Associated with Heavy Chain Deposition Disease

A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa

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