Collodion babies: A 15-year retrospective multicenter study in The Netherlands—Evaluation of severity scores to predict the underlying disease

Cuperus, Edwin; Bolling, Maria C.; Graaf, Marlies de; Akker, Peter C. van den; Gijn, Mariëlle van; Simon, Marleen; Sigurdsson, V.; Pasmans, Suzanne G.M.A.

doi:10.1016/j.jaad.2020.06.021

Cited by 4 publications

(4 citation statements)

References 5 publications

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“…This is in contrast with a recent study describing malnutrition in ichthyosis patients, but those patients were also severely affected by their skin condition suggesting a greater risk of malnutrition in severe cases 13 . The relatively high rate of cases with ‘fine scaling congenital ichthyosis’ in this study, in contrast to other case series, 14–16 might be a bias of the small number of cases. Other limitations of our study are the retrospective character and the real‐life setting with evaluations at various time points.…”

Section: Discussioncontrasting

confidence: 99%

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Frommherz

Krause

Köpp

et al. 2021

Acad Dermatol Venereol

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Background Non-syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging.Objectives To determine clinical course and genotype-phenotype correlations in children affected by non-syndromic congenital ichthyosis in a case series from south-western Germany.Methods We performed a retrospective observational study of 32 children affected by non-syndromic congenital ichthyoses seen in our genodermatosis clinic between 2011 and 2020. Follow-ups included assessment of weight and severity of skin involvement utilizing a modified Ichthyosis Area Severity Index (mIASI). mIASI was calculated as a sum comprising the previously published IASI score and an additional novel score to evaluate palmoplantar involvement. Linear regression was assessed using Pearson correlation, and statistical analysis was performed using the Wilcoxon-Mann-Whitney test. ResultsThis study included 23 patients with autosomal recessive congenital ichthyosis, seven with keratinopathic ichthyosis and two with harlequin ichthyosis. Cutaneous manifestations improved in more than 70% of the children during the follow-up. Especially in patients with mutations in ALOXE3 and ALOX12B, mIASI scores dropped significantly. The most common phenotype observed in this study was designated 0 mild fine scaling ichthyosis 0 . Severe palmoplantar involvement occurred in patients with KRT1 and ABCA12 mutations; most patients demonstrated hyperlinearity as a sign of dryness and scaling. Weight was mainly in the normal range and negatively correlated with the severity of skin involvement.Conclusions Congenital ichthyosis that self-improves and evolves with mild fine scaling ichthyosis was the most common phenotype observed in our patients. This type might be underdiagnosed if the genetic diagnosis is not performed in the first year of life. mIASI is an easy and fast instrument for scoring disease severity and adding additional points for palmoplantar involvement might be valuable.

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Section: Discussioncontrasting

confidence: 99%

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Frommherz

Krause

Köpp

et al. 2021

Acad Dermatol Venereol

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“…However, the fact that patients with identical mutations can demonstrate different outcomes suggests the role of yet undiscovered factors. A multicentric study confirmed a similar trend as Rubio-Gomez et al—toward a higher collodion membrane severity score in the case of non-syndromic forms of ichthyosis compared to syndromic forms [ 15 , 21 ]. However, this study could not establish a strong link between the collodion membrane score and the clinical outcome of the disease.…”

Section: Discussionsupporting

confidence: 75%

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Anker

Kiss

Kocsis

et al. 2021

Life

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Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable. Genetic mutations of components of the epidermal lipoxygenase pathway have been implicated in the majority of self-improving collodion ichthyosis (SICI). In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. At the age of 3 years, only mild symptoms of a keratinization disorder remained. However, the severity of erythema and scaling showed mild fluctuations over time. To objectively evaluate the skin changes of the patient, we assessed the ichthyosis severity index. Upon sequencing of the ALOX12B gene, we identified a previously unreported heterozygous nonsense mutation, c.1607G>A (p.Trp536Ter) with the recurrent, heterozygous mutation c.1562A>G (p.Tyr521Cys). Thereby, our findings expand the genotypic spectrum of SICI. In addition, we summarize the spectrum of further genetic diseases that can present at birth as collodion baby, in particular the SICI.

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“…A generalized collodion membrane was more common in autosomal recessive congenital ichthyosis (ARCI), while partial involvement was more frequent in unspecified congenital ichthyosis and syndromic ichthyosis 21 . A 15‐year retrospective study on collodion babies in the Netherlands could not confirm this severity score 91 …”

Section: Physical Examinationmentioning

confidence: 99%

“…21 A 15-year retrospective study on collodion babies in the Netherlands could not confirm this severity score. 91 The presence and type of scaling in patients with NE can help in the differential diagnosis. 6 Neonatal scaling and exfoliative erythroderma are suggestive for ichthyoses and NS.…”

Section: Collodion Membrane and Scalingmentioning

confidence: 99%

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

Cuperus

Bygum

Boeckmann

et al. 2022

Acad Dermatol Venereol

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The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case-by-case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 -May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non-congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft-versus-host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential † Member of the ERN-SKIN-subthematic group Ichthyosis

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Collodion babies: A 15-year retrospective multicenter study in The Netherlands—Evaluation of severity scores to predict the underlying disease

Cited by 4 publications

References 5 publications

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

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