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Ichthyosis prematurity syndrome(IPS)

MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
Synonyms: Ichthyosis congenita IV; IPS
 
Gene: SLC27A4
Cytogenetic location: 9q34.11
OMIM®: 608649
Orphanet: ORPHA88621

Clinical features

Premature birth
MedGen UID:
776559
Concept ID:
C2028283
Finding
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGIchthyosis prematurity syndrome

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

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

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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