Cutis laxa

Definition:

Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation.

References:

[1]. Bert Callewaert, et al. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55. [Content Brief]

[2]. Bruno Reversade, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep;41(9):1016-21. [Content Brief]

[3]. David L Skidmore, et al. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A. 2011 Aug;155A(8):1848-56. [Content Brief]

[4]. Dessislava Markova, et al. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004. [Content Brief]

[5]. Eva Morava, et al. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110. [Content Brief]

[6]. Lore Pottie, et al. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. [Content Brief]

[7]. Neerja Gupta, et al. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun;23(3):225-30. [Content Brief]

[8]. Tim Van Damme, et al. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2;100(2):216-227. [Content Brief]

[9]. Uwe Kornak, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. [Content Brief]

[10]. Vishwanathan Hucthagowder, et al. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78(6):1075-80. [Content Brief]

[11]. Zsolt Urban, et al. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet. 2009 Nov;85(5):593-605. [Content Brief]

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