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

E Cuperus; A Bygum; L Boeckmann; C Bodemer; M C Bolling; M Caproni; A Diociaiuti; S Emmert; J Fischer; A Gostynski; S Guez; M E van Gijn; K Hannulla-Jouppi; C Has; A Hernández-Martín; A E Martinez; J Mazereeuw-Hautier; M Medvecz; I Neri; V Sigurdsson; K Suessmuth; H Traupe; V Oji; S G M A Pasmans

doi:10.1111/jdv.18043

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

E Cuperus, A Bygum, L Boeckmann, C Bodemer, M C Bolling, M Caproni, A Diociaiuti, S Emmert, J Fischer, A Gostynski, S Guez, M E van Gijn, K Hannulla-Jouppi, C Has, A Hernández-Martín, A E Martinez, J Mazereeuw-Hautier, M Medvecz, I Neri, V SigurdssonK Suessmuth, H Traupe, V Oji, S G M A Pasmans^*

^*Corresponding author for this work

Research output: Contribution to journal › (Systematic) Review article › peer-review

Abstract

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 diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

Original language	English
Pages (from-to)	973-986
Number of pages	14
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	36
Issue number	7
Early online date	15 Mar 2022
DOIs	https://doi.org/10.1111/jdv.18043
Publication status	Published - Jul 2022

Keywords

AEC SYNDROME
CHANARIN-DORFMAN SYNDROME
COLLODION BABY
GAUCHER-DISEASE
HAIR SAMPLES
ICHTHYOSIFORM ERYTHRODERMA
NETHERTON-SYNDROME
OMENN SYNDROME
PRIMARY IMMUNODEFICIENCY DISORDERS
VERSUS-HOST-DISEASE

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10.1111/jdv.18043Licence: CC BY-NC-ND

Cite this

Cuperus, E., Bygum, A., Boeckmann, L., Bodemer, C., Bolling, M. C., Caproni, M., Diociaiuti, A., Emmert, S., Fischer, J., Gostynski, A., Guez, S., van Gijn, M. E., Hannulla-Jouppi, K., Has, C., Hernández-Martín, A., Martinez, A. E., Mazereeuw-Hautier, J., Medvecz, M., Neri, I., ... Pasmans, S. G. M. A. (2022). Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma. Journal of the European Academy of Dermatology and Venereology, 36(7), 973-986. https://doi.org/10.1111/jdv.18043

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abstract = "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 diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.",

keywords = "AEC SYNDROME, CHANARIN-DORFMAN SYNDROME, COLLODION BABY, GAUCHER-DISEASE, HAIR SAMPLES, ICHTHYOSIFORM ERYTHRODERMA, NETHERTON-SYNDROME, OMENN SYNDROME, PRIMARY IMMUNODEFICIENCY DISORDERS, VERSUS-HOST-DISEASE",

author = "E Cuperus and A Bygum and L Boeckmann and C Bodemer and Bolling, {M C} and M Caproni and A Diociaiuti and S Emmert and J Fischer and A Gostynski and S Guez and {van Gijn}, {M E} and K Hannulla-Jouppi and C Has and A Hern{\'a}ndez-Mart{\'i}n and Martinez, {A E} and J Mazereeuw-Hautier and M Medvecz and I Neri and V Sigurdsson and K Suessmuth and H Traupe and V Oji and Pasmans, {S G M A}",

note = "{\textcopyright} 2022 The Authors. Journal of the European Academy of Dermatology and Venereology published by John Wiley & Sons Ltd on behalf of European Academy of Dermatology and Venereology.",

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language = "English",

volume = "36",

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Cuperus, E, Bygum, A, Boeckmann, L, Bodemer, C, Bolling, MC, Caproni, M, Diociaiuti, A, Emmert, S, Fischer, J, Gostynski, A, Guez, S, van Gijn, ME, Hannulla-Jouppi, K, Has, C, Hernández-Martín, A, Martinez, AE, Mazereeuw-Hautier, J, Medvecz, M, Neri, I, Sigurdsson, V, Suessmuth, K, Traupe, H, Oji, V & Pasmans, SGMA 2022, 'Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma', Journal of the European Academy of Dermatology and Venereology, vol. 36, no. 7, pp. 973-986. https://doi.org/10.1111/jdv.18043

TY - JOUR

T1 - Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma

AU - Cuperus, E

AU - Bygum, A

AU - Boeckmann, L

AU - Bodemer, C

AU - Bolling, M C

AU - Caproni, M

AU - Diociaiuti, A

AU - Emmert, S

AU - Fischer, J

AU - Gostynski, A

AU - Guez, S

AU - van Gijn, M E

AU - Hannulla-Jouppi, K

AU - Has, C

AU - Hernández-Martín, A

AU - Martinez, A E

AU - Mazereeuw-Hautier, J

AU - Medvecz, M

AU - Neri, I

AU - Sigurdsson, V

AU - Suessmuth, K

AU - Traupe, H

AU - Oji, V

AU - Pasmans, S G M A

PY - 2022/7

Y1 - 2022/7

N2 - 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 diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

AB - 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 diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho-epithelial Kazal-type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6-step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin-subthematic group Ichthyosis.

KW - AEC SYNDROME

KW - CHANARIN-DORFMAN SYNDROME

KW - COLLODION BABY

KW - GAUCHER-DISEASE

KW - HAIR SAMPLES

KW - ICHTHYOSIFORM ERYTHRODERMA

KW - NETHERTON-SYNDROME

KW - OMENN SYNDROME

KW - PRIMARY IMMUNODEFICIENCY DISORDERS

KW - VERSUS-HOST-DISEASE

U2 - 10.1111/jdv.18043

DO - 10.1111/jdv.18043

M3 - (Systematic) Review article

C2 - 35238435

SN - 0926-9959

VL - 36

SP - 973

EP - 986

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

IS - 7

ER -