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Cutis laxa, recessive

MedGen UID:
419344
•Concept ID:
C2931134
•
Disease or Syndrome
Synonym: Cutis laxa, type 1

Professional guidelines

PubMed

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636

Recent clinical studies

Etiology

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.
Ritelli M, Cammarata-Scalisi F, Cinquina V, Colombi M
Mol Genet Genomic Med 2019 Jul;7(7):e00735. Epub 2019 May 21 doi: 10.1002/mgg3.735. PMID: 31115174Free PMC Article
Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).
Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA
JAMA Dermatol 2019 Feb 1;155(2):257-259. doi: 10.1001/jamadermatol.2018.4665. PMID: 30586144
Autosomal recessive cutis laxa in two siblings associated with blue sclera.
Girisgen I, Mungan I, Cakir M, Ersoz S, Okten A
Pediatr Dermatol 2007 May-Jun;24(3):E10-3. doi: 10.1111/j.1525-1470.2007.00384.x. PMID: 17509111

Diagnosis

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.
Ritelli M, Cammarata-Scalisi F, Cinquina V, Colombi M
Mol Genet Genomic Med 2019 Jul;7(7):e00735. Epub 2019 May 21 doi: 10.1002/mgg3.735. PMID: 31115174Free PMC Article
Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).
Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA
JAMA Dermatol 2019 Feb 1;155(2):257-259. doi: 10.1001/jamadermatol.2018.4665. PMID: 30586144
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.
Wada Y, Kadoya M, Okamoto N
Glycobiology 2012 Aug;22(8):1140-4. Epub 2012 May 18 doi: 10.1093/glycob/cws086. PMID: 22611120
Autosomal recessive cutis laxa in two siblings associated with blue sclera.
Girisgen I, Mungan I, Cakir M, Ersoz S, Okten A
Pediatr Dermatol 2007 May-Jun;24(3):E10-3. doi: 10.1111/j.1525-1470.2007.00384.x. PMID: 17509111

Prognosis

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).
Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA
JAMA Dermatol 2019 Feb 1;155(2):257-259. doi: 10.1001/jamadermatol.2018.4665. PMID: 30586144

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