Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism

Khnykin, Denis; Rønnevig, Jørgen; Johnsson, M.; Sitek, Jan Cezary; Blaas, Harm-Gerd K.; Haußer, Ingrid; Johansen, Finn–Eirik; Jahnsen, Frode L.

doi:10.1016/j.jaad.2011.04.014

Cited by 55 publications

(57 citation statements)

References 16 publications

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“…However, this was not discussed for IPS, which at the time was considered a "true" syndrome and thus excluded from ARCI. In a recent study of 22 Norwegian patients with IPS, Khnykin et al (26) conclude that all extracutaneous symptoms are probably secondary to a massive scaling in utero and a subsequent skin barrier defect. Another argument for including IPS among the ARCIs is that at post-infancy the skin phenotype is almost indistinguishable from mild ichthyosis.…”

Section: Mutation Analysismentioning

confidence: 99%

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Pigg¹,

Bygum²,

Gånemo³

et al. 2016

Acta Derm Venerol

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Autosomal recessive congenital ichthyosis (ARCI) repre sents a heterogeneous group of rare disorders of coz1r nification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosi form ery throderma (CIE). A 4 th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 pa tients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth, a collodion membrane or similar severe hyperkeratosis was reported in almost all patients with HI and LI, and in nearly half of patients with CIE and PI. Persistent ectropion was more common in HI (85%) and LI (57%), than in CIE (35%) and PI (5%). Anhidrosis was a frequent problem in all 4 groups (58-100%). A scoring (0-4) of ichthyosis/ery thema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27A4 (n = 5), CYP4F22 (n = 3), PNPLA1 (n = 1) and ABHD5 (n = 1). In conclusion, by performing a deep phenotyping and gene screening, ARCI can be definitely diagnosed in 85% of cases in Scandinavia, with a prevalence of 1:100,000 and > 8 different aetiologies.

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Section: Mutation Analysismentioning

confidence: 99%

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Pigg¹,

Bygum²,

Gånemo³

et al. 2016

Acta Derm Venerol

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“…22 The skin rapidly improves to a mild, chronic ichthyosis accompanied by severe pruritus, eosinophilia, and atopy. 23 Ichthyosis prematurity syndrome is caused by mutations in the SLC27A4 gene, leading to decreased incorporation of very long chain fatty acids into cellular lipids and defective skin barrier function. [24][25][26] Although NS has been described as a rare outcome of CB, NS typically presents with generalized erythroderma, scaling, and peeling of the skin (but not a true collodion membrane), beginning at birth or shortly thereafter.…”

Section: Differential Diagnosis Of Cbmentioning

confidence: 99%

Collodion baby: An update with a focus on practical management

Prado

Ellis

Gamble

et al. 2012

Journal of the American Academy of Dermatology

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“…The condition appears to be very rare except in regions of Scandinavia where there is an estimated heterozygote carrier rate of 1 in 50 5 6. There have been cases reported in the Middle East, southern Europe and Africa,6 but to date less than 30 cases have been reported.…”

Section: Introductionmentioning

confidence: 99%

“…There have been cases reported in the Middle East, southern Europe and Africa,6 but to date less than 30 cases have been reported. This report presents detailed clinical findings of an additional case of IPS, the first one in Iceland, which exhibited polyhydramnion and separation of the amniotic and chorionic membranes.…”

Section: Introductionmentioning

confidence: 99%

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia

et al. 2012

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Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have been found to develop neonatal asphyxia due to occlusions in the bronchial tree from debris in the amniotic fluid. At 31 weeks of gestation, separation of amniotic and chorionic membranes was identified as well as polyhydramnion. The child was born 2 weeks later, with thickened skin with a granular appearance and required immediate ventilation and intensive care. At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin infections, food intolerance and periods of wheezing. Prenatal observation of separation of foetal membranes or dense amniotic fluid may be signs of IPS and severe complication immediately after birth.

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Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism

Cited by 55 publications

References 16 publications

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Collodion baby: An update with a focus on practical management

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia

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