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Lethal tight skin contracture syndrome

MedGen UID:
98356
•Concept ID:
C0406585
•
Disease or Syndrome
Synonyms: Fetal hypokinesia sequence due to restrictive dermopathy; Hyperkeratosis-contracture syndrome; Restrictive dermopathy; Restrictive dermopathy, lethal
SNOMED CT: Lethal tight skin contracture syndrome (400128006); Infantile restrictive dermopathy (400128006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: ZMPSTE24, LMNA
 
Monarch Initiative: MONDO:0031213
OMIM®: 275210
OMIM® Phenotypic series: PS275210
Orphanet: ORPHA1662

Definition

Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by Smigiel et al., 2010). Genetic Heterogeneity of Restrictive Dermopathy See also RSMD2 (619793), caused by mutation in the LMNA gene (150330) on chromosome 1q22. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Lethal tight skin contracture syndrome in Orphanet.

Professional guidelines

PubMed

Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.
Cenni V, Capanni C, Mattioli E, Columbaro M, Wehnert M, Ortolani M, Fini M, Novelli G, Bertacchini J, Maraldi NM, Marmiroli S, D'Apice MR, Prencipe S, Squarzoni S, Lattanzi G
Aging (Albany NY) 2014 Sep;6(9):755-70. doi: 10.18632/aging.100680. PMID: 25324471Free PMC Article
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine.
Richards SA, Muter J, Ritchie P, Lattanzi G, Hutchison CJ
Hum Mol Genet 2011 Oct 15;20(20):3997-4004. Epub 2011 Aug 1 doi: 10.1093/hmg/ddr327. PMID: 21807766

Recent clinical studies

Therapy

Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.
Cenni V, Capanni C, Mattioli E, Columbaro M, Wehnert M, Ortolani M, Fini M, Novelli G, Bertacchini J, Maraldi NM, Marmiroli S, D'Apice MR, Prencipe S, Squarzoni S, Lattanzi G
Aging (Albany NY) 2014 Sep;6(9):755-70. doi: 10.18632/aging.100680. PMID: 25324471Free PMC Article
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine.
Richards SA, Muter J, Ritchie P, Lattanzi G, Hutchison CJ
Hum Mol Genet 2011 Oct 15;20(20):3997-4004. Epub 2011 Aug 1 doi: 10.1093/hmg/ddr327. PMID: 21807766

Prognosis

Restrictive Dermopathy: Four Case Reports and Structural Skin Changes.
Bidier M, Salz M, Meyburg J, Elbe-Bürger A, Lasitzschka F, Hausser I, Schäkel K
Acta Derm Venereol 2018 Aug 29;98(8):807-808. doi: 10.2340/00015555-2970. PMID: 29774364
Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings.
Chohan O, Daugherty RJ, Bartoshesky L
Del Med J 2016 Oct;88(10):308-310. PMID: 29894032
Restrictive dermopathy in a Turkish newborn.
Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B
Pediatr Dermatol 2011 Jul-Aug;28(4):408-11. Epub 2010 Dec 2 doi: 10.1111/j.1525-1470.2010.01296.x. PMID: 21121943
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N
Hum Mol Genet 2004 Oct 15;13(20):2493-503. Epub 2004 Aug 18 doi: 10.1093/hmg/ddh265. PMID: 15317753
Restrictive dermopathy. Report of two affected siblings and a review of the literature.
Welsh KM, Smoller BR, Holbrook KA, Johnston K
Arch Dermatol 1992 Feb;128(2):228-31. doi: 10.1001/archderm.128.2.228. PMID: 1739302

Clinical prediction guides

Restrictive dermopathy in a Turkish newborn.
Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B
Pediatr Dermatol 2011 Jul-Aug;28(4):408-11. Epub 2010 Dec 2 doi: 10.1111/j.1525-1470.2010.01296.x. PMID: 21121943
Restrictive dermopathy. Report of two affected siblings and a review of the literature.
Welsh KM, Smoller BR, Holbrook KA, Johnston K
Arch Dermatol 1992 Feb;128(2):228-31. doi: 10.1001/archderm.128.2.228. PMID: 1739302

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