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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

Definition

Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome. [from GTR]

Additional description

From GeneReviews
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.  https://www.ncbi.nlm.nih.gov/books/NBK1420

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

Youssef MJ, Wolz MM, Harris MN, Richard G, Bridges AG, Wieland CN, Hand JL
Int J Dermatol 2016 Aug;55(8):e454-7. Epub 2015 Sep 4 doi: 10.1111/ijd.13099. PMID: 26341232
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. 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. PMID: 16946994

Diagnosis

Claus S, Terliesner N, Simon JC, Treudler R
J Dtsch Dermatol Ges 2016 Apr;14(4):435-7. Epub 2016 Mar 12 doi: 10.1111/ddg.12862. PMID: 26972371
Youssef MJ, Wolz MM, Harris MN, Richard G, Bridges AG, Wieland CN, Hand JL
Int J Dermatol 2016 Aug;55(8):e454-7. Epub 2015 Sep 4 doi: 10.1111/ijd.13099. PMID: 26341232
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. PMID: 21856041
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

Youssef MJ, Wolz MM, Harris MN, Richard G, Bridges AG, Wieland CN, Hand JL
Int J Dermatol 2016 Aug;55(8):e454-7. Epub 2015 Sep 4 doi: 10.1111/ijd.13099. PMID: 26341232
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. 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. 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. 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. 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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