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Ichthyosis prematurity syndrome(IPS)

MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
Synonyms: Ichthyosis congenita IV; IPS
SNOMED CT: Congenital ichthyosis type 4 (763401009); Ichthyosis prematurity syndrome (763401009)
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).
 
Gene (location): SLC27A4 (9q34.11)
 
Monarch Initiative: MONDO:0012089
OMIM®: 608649
Orphanet: ORPHA88621

Authors:
Gabriele Richard   view full author information

Additional descriptions

From GeneReviews Overview
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 OMIM
Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis, a clinically and genetically heterogeneous group of inherited keratinization disorders. IPS presents with complications at midtrimester of pregnancy leading to prematurity, a thick caseous and desquamating skin, respiratory complications, and persistent eosinophilia. Skin features evolve into a flat follicular hyperkeratosis with atopy (Klar et al., 2004).  http://www.omim.org/entry/608649

Clinical features

From HPO
Neonatal asphyxia
MedGen UID:
2469
Concept ID:
C0004045
Disease or Syndrome
Respiratory failure in the newborn.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Allergic rhinitis
MedGen UID:
382012
Concept ID:
C2607914
Disease or Syndrome
It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
Food allergy
MedGen UID:
1635115
Concept ID:
C4554344
Disease or Syndrome
Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.
Alopecia of scalp
MedGen UID:
658454
Concept ID:
C0574769
Finding
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Dermatographic urticaria
MedGen UID:
488854
Concept ID:
C0343065
Disease or Syndrome
An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).
Generalized ichthyosis
MedGen UID:
765442
Concept ID:
C3552528
Finding
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Caseous vernix-like desquamation
MedGen UID:
1814220
Concept ID:
C5676646
Finding
Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.

Term Hierarchy

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

Professional guidelines

PubMed

Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, Oji V
Br J Dermatol 2019 Mar;180(3):484-495. Epub 2018 Dec 3 doi: 10.1111/bjd.16882. PMID: 29897631

Recent clinical studies

Etiology

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
Pediatr Dermatol 2023 Jan;40(1):107-112. Epub 2022 Oct 19 doi: 10.1111/pde.15156. PMID: 36262015
Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, Oji V
Br J Dermatol 2019 Mar;180(3):484-495. Epub 2018 Dec 3 doi: 10.1111/bjd.16882. PMID: 29897631
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

Diagnosis

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
Pediatr Dermatol 2023 Jan;40(1):107-112. Epub 2022 Oct 19 doi: 10.1111/pde.15156. PMID: 36262015
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
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
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

Therapy

Henderson D, Murphy CA, O'Dea M, Boyle MA
BMJ Case Rep 2021 Aug 20;14(8) doi: 10.1136/bcr-2021-243348. PMID: 34417235Free PMC Article
Lwin SM, Hsu CK, McMillan JR, Mellerio JE, McGrath JA
JAMA Dermatol 2016 Sep 1;152(9):1055-8. doi: 10.1001/jamadermatol.2016.1187. PMID: 27224495

Prognosis

Lwin SM, Hsu CK, McMillan JR, Mellerio JE, McGrath JA
JAMA Dermatol 2016 Sep 1;152(9):1055-8. doi: 10.1001/jamadermatol.2016.1187. PMID: 27224495
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

Yamamoto H, Hattori M, Chamulitrat W, Ohno Y, Kihara A
Proc Natl Acad Sci U S A 2020 Feb 11;117(6):2914-2922. Epub 2020 Jan 23 doi: 10.1073/pnas.1917525117. PMID: 31974308Free PMC Article
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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