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Ichthyosis prematurity syndrome(IPS)

MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
Synonyms: Ichthyosis congenita IV; IPS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SLC27A4 (9q34.11)
OMIM®: 608649
Orphanet: ORPHA88621

Clinical features

Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Premature Birth
MedGen UID:
57721
Concept ID:
C0151526
Finding
The birth of a baby of less than 37 weeks of gestational age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis prematurity syndrome
Follow this link to review classifications for Ichthyosis prematurity syndrome in Orphanet.

Recent clinical studies

Etiology

Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Apr;39(4):473-7. Epub 2012 Mar 12 doi: 10.1002/uog.9014. [Epub ahead of print] PMID: 21465607
Vahlquist A
Acta Derm Venereol 2010 Sep;90(5):454-60. doi: 10.2340/00015555-0937. PMID: 20814618
Melin M, Klar J, Jr Gedde-Dahl T, Fredriksson R, Hausser I, Brandrup F, Bygum A, Vahlquist A, Hellström Pigg M, Dahl N
J Hum Genet 2006;51(10):864-71. Epub 2006 Sep 1 doi: 10.1007/s10038-006-0035-z. [Epub ahead of print] PMID: 16946994

Diagnosis

Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Khnykin D, Rønnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL
J Am Acad Dermatol 2012 Apr;66(4):606-16. Epub 2011 Aug 19 doi: 10.1016/j.jaad.2011.04.014. [Epub ahead of print] PMID: 21856041
Vahlquist A
Acta Derm Venereol 2010 Sep;90(5):454-60. doi: 10.2340/00015555-0937. PMID: 20814618
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

Prognosis

Kiely C, Devaney D, Fischer J, Lenane P, Irvine AD
Pediatr Dermatol 2014 Jul-Aug;31(4):517-8. Epub 2014 May 29 doi: 10.1111/pde.12320. [Epub ahead of print] PMID: 24889544
Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Apr;39(4):473-7. Epub 2012 Mar 12 doi: 10.1002/uog.9014. [Epub ahead of print] PMID: 21465607
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

Clinical prediction guides

Kiely C, Devaney D, Fischer J, Lenane P, Irvine AD
Pediatr Dermatol 2014 Jul-Aug;31(4):517-8. Epub 2014 May 29 doi: 10.1111/pde.12320. [Epub ahead of print] PMID: 24889544
Dereksson K, Kjartansson S, Hjartardóttir H, Arngrimsson R
BMJ Case Rep 2012 Aug 27;2012 doi: 10.1136/bcr.02.2012.5823. PMID: 22927265Free PMC Article
Blaas HG, Salvesen KÅ, Khnykin D, Jahnsen FL, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Apr;39(4):473-7. Epub 2012 Mar 12 doi: 10.1002/uog.9014. [Epub ahead of print] PMID: 21465607
Bygum A, Westermark P, Brandrup F
J Am Acad Dermatol 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014. PMID: 19119129

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