Literature DB >> 681575

Cutis laxa (generalized elastolysis). A report of four cases with autopsy findings.

A H Mehregan, S C Lee, H Nabai.   

Abstract

Four children with cutis laxa (generalized elastolysis) are reported. The first three cases were siblings from a Canadian Indian family and the fourth case was the only affected child in an American Black family. Loose and sagging skin folded over the face, neck and trunk, gave a premature senile appearance. Post-mortem examination was performed on the first three cases. The most common and serious visceral involvement was development of pulmonary emphysema. This was present in two autopsied cases and was demonstrated by chest X-ray in the fourth case. Other abnormalities included large inguinal and perineal hernia, rectal diverticulum and multiple diverticulae of the urinary bladder.

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Year:  1978        PMID: 681575     DOI: 10.1111/j.1600-0560.1978.tb00948.x

Source DB:  PubMed          Journal:  J Cutan Pathol        ISSN: 0303-6987            Impact factor:   1.587


  8 in total

1.  A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease.

Authors:  Cassandra M Kelleher; Edwin K Silverman; Thomas Broekelmann; Augusto A Litonjua; Melvin Hernandez; Jody S Sylvia; Joan Stoler; John J Reilly; Harold A Chapman; Frank E Speizer; Scott T Weiss; Robert P Mecham; Benjamin A Raby
Journal:  Am J Respir Cell Mol Biol       Date:  2005-08-04       Impact factor: 6.914

2.  Emphysema and cutis laxa.

Authors:  L Turner-Stokes; C Turton; F M Pope; M Green
Journal:  Thorax       Date:  1983-10       Impact factor: 9.139

Review 3.  Causes and histopathology of ascending aortic disease in children and young adults.

Authors:  Deepali Jain; Harry C Dietz; Gretchen L Oswald; Joseph J Maleszewski; Marc K Halushka
Journal:  Cardiovasc Pathol       Date:  2011 Jan-Feb       Impact factor: 2.185

Review 4.  Autosomal recessive cutis laxa syndrome revisited.

Authors:  Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

5.  Metastatic emphysema: a mechanism for acquiring inguinal herniation.

Authors:  D J Cannon; R C Read
Journal:  Ann Surg       Date:  1981-09       Impact factor: 12.969

6.  Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain.

Authors:  M C Zhang; M Giro; D Quaglino; J M Davidson
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

7.  Incidental Detection of Bilateral Large Urinary Bladder Diverticulae on Tc99m Ethylene Dicysteine Renography with Single-photon Emission Computed Tomography-Computed Tomography.

Authors:  Ashwin Singh Parihar; Shelvin Kumar Vadi; Prema Menon; Bhagwant Rai Mittal; Anish Bhattacharya
Journal:  Indian J Nucl Med       Date:  2018 Jan-Mar

8.  The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Authors:  Manisha Goyal; Ankur Singh; Uwe Kornak; Seema Kapoor
Journal:  Indian J Dermatol       Date:  2015 Sep-Oct       Impact factor: 1.494

  8 in total

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