Diagnostic next generation sequencing in neonatal erythroderma

Cuperus, Edwin; Sigurdsson, V.; Akker, Peter C. van den; Bolling, Marieke C.; Gijn, Mariëlle van; Pasmans, Suzanne G.M.A.

doi:10.1111/ddg.14298

Cited by 5 publications

(2 citation statements)

References 9 publications

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“…In our cohort seven patients (33 %) showed other IKBKG pathogenic variants, of which three are unpublished to date. In case of an unclear clinical presentation or neonatal erythroderma, Cuperus et al recommended the use of next generation sequencing (NGS) to establish a diagnosis [40].…”

Section: Discussionmentioning

confidence: 99%

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Hübner

Schwieger‐Briel

Technau‐Hafsi

et al. 2021

J Deutsche Derma Gesell

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Background and objectives: Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system.Patients and methods: This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. Results:The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. Conclusions:In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.

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Section: Discussionmentioning

confidence: 99%

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Hübner

Schwieger‐Briel

Technau‐Hafsi

et al. 2021

J Deutsche Derma Gesell

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“…Recently in a prospective study, in 70% of patients with NE, a mutation could be detected by next generation sequencing (NGS), with a selected gene panel of 60 genes 123 that will be adjusted according to this review (Appendix ). Based on the diagnostic delay in cases of NS, OS, IPEX and non‐syndromic ichthyosis in this review, one can assume that performing mutation analysis in an early phase is important to limit complications.…”

Section: Additional Testingmentioning

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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Neonatal erythroderma

Ott

2023

Monatsschr Kinderheilkd

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Diagnostic next generation sequencing in neonatal erythroderma

Cited by 5 publications

References 9 publications

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

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

Neonatal erythroderma

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