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

Author

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., Hannula-Jouppi, K., Has, C., Hernandez-Martin, A., Martinez, A. E., Mazereeuw-Hautier, J., Medvecz, M., Neri, I., Sigurdsson, V., Suessmuth, K., Traupe, H., Oji, V., Pasmans, S. G. M. A., Department of Dermatology, Allergology and Venereology, and HUS Inflammation Center

Subjects
GAUCHER-DISEASE, ICHTHYOSIFORM ERYTHRODERMA, NETHERTON-SYNDROME, 3121 General medicine, internal medicine and other clinical medicine, VERSUS-HOST-DISEASE, OMENN SYNDROME, AEC SYNDROME, PRIMARY IMMUNODEFICIENCY DISORDERS, CHANARIN-DORFMAN SYNDROME, HAIR SAMPLES, COLLODION BABY
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.

Published
2022

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

Author

MS Dermatologie/Allergologie, Other research (not in main researchprogram), 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., Sigurdsson, V., Suessmuth, K., Traupe, H., Oji, V., Pasmans, S. G.M.A., MS Dermatologie/Allergologie, Other research (not in main researchprogram), 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., Sigurdsson, V., Suessmuth, K., Traupe, H., Oji, V., and Pasmans, S. G.M.A.

Published
2022

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

Author

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

Published
2022
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4. Collodion babies: a 15-year retrospective multicenter study in the Netherlands. Evaluation of severity scores to predict the underlying disease

Author

MS Dermatologie/Allergologie, Infection & Immunity, Genetica Klinische Genetica, Other research (not in main researchprogram), Cuperus, E, Bolling, M C, de Graaf, M, van den Akker, P C, van Gijn, M E, Simon, M E H, Sigurdsson, V, Pasmans, S G M A, MS Dermatologie/Allergologie, Infection & Immunity, Genetica Klinische Genetica, Other research (not in main researchprogram), Cuperus, E, Bolling, M C, de Graaf, M, van den Akker, P C, van Gijn, M E, Simon, M E H, Sigurdsson, V, and Pasmans, S G M A

Published
2021

5. Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin

Author

Cuperus, E., Koevoets, R. (Rosanne), Smagt, J.J. (Jasper) van der, Toonstra, J. (Johan), Graaf, M. (Marlies) de, Frenkel, J. (Joost), Pasmans, S.G.M.A. (Suzanne), Cuperus, E., Koevoets, R. (Rosanne), Smagt, J.J. (Jasper) van der, Toonstra, J. (Johan), Graaf, M. (Marlies) de, Frenkel, J. (Joost), and Pasmans, S.G.M.A. (Suzanne)

Published
2018
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6. Neonatale erythrodermie en collodionbaby

Author

Cuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E., and Pasmans, S. G M A

Subjects
Infectious Diseases, Critical Care and Intensive Care Medicine
Abstract

Erythroderma in the newborn is rare and can be fatal. Ichthyosis, immunodeficiencies, infections and metabolic disorders are among the most common causes. An overview will be given of the most common causes of congenital (present at birth) and neonatal (developed within 4 weeks postpartum) erythroderma, including the collodion baby. Especially an immunodeficiency or metabolic disorder can be missed, as signs as lymphadenopathy, fever and 'failure to thrive' are absent. An erythrodermic newborn does not have to appear ill. It takes up to 11 months until a definitive diagnosis is made. To prevent complications and death,early and specific are needed. Unfortunately, history, physical examination and histological investigations are not always diagnostic and immunological and genetic research is needed. We have made a national protocol on how to approach the erythrodermic newborn. This is to be found using the following website: www.huidhuis.nl/afdeling/neonataleerythrodermie. The protocol is being tested in a prospective study at moment at the Erasmus MC. Doctors who are confronted by an erythrodermic neonate, are advised to follow this protocol.

Published
2015

8. Neonatale erythrodermie en collodionbaby

Author

Genetica Klinische Genetica, Circulatory Health, OK WKZ Bureau, Immuno/reuma patientenzorg, Infection & Immunity, Child Health, Metabole ziekten patientenzorg, UMC Utrecht, Afdeling Dermatologie/Allergologie, MS Dermatologie/Allergologie, Other research (not in main researchprogram), Project Ondersteuning, Genetica Sectie Genoomdiagnostiek, Cuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E., Pasmans, S. G M A, Genetica Klinische Genetica, Circulatory Health, OK WKZ Bureau, Immuno/reuma patientenzorg, Infection & Immunity, Child Health, Metabole ziekten patientenzorg, UMC Utrecht, Afdeling Dermatologie/Allergologie, MS Dermatologie/Allergologie, Other research (not in main researchprogram), Project Ondersteuning, Genetica Sectie Genoomdiagnostiek, Cuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E., and Pasmans, S. G M A

Published
2015

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

Author

Cuperus E, Bolling MC, de Graaf M, van den Akker PC, van Gijn ME, Simon MEH, Sigurdsson V, and Pasmans SGMA

Subjects
Humans, Ichthyosiform Erythroderma, Congenital classification, Ichthyosiform Erythroderma, Congenital genetics, Netherlands, Phenotype, Retrospective Studies, Ichthyosiform Erythroderma, Congenital diagnosis, Severity of Illness Index
Published
2021
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13. Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome.

Author

Cuperus E, Montfrans JMV, Gijn MEV, Bastiaens MT, Willigen MM, Leguit RJ, Brijnzeel-Koomen CA, RusseL IM, and Pasmans SG

Subjects
Dermatitis, Exfoliative pathology, Failure to Thrive etiology, Fatal Outcome, Female, Humans, Infant, Newborn, Mutation, Severe Combined Immunodeficiency pathology, Dermatitis, Exfoliative congenital, Severe Combined Immunodeficiency diagnosis
Published
2017
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14. What Can Be Expected on Irradiated Skin? A Dermatologic Focus on Acute and Chronic Radiotherapeutic Effects, Treatment, and Benign Dermatoses.

Author

Cuperus E, Albregts M, and Toonstra J

Abstract

Radiotherapy has been a common and well-known treatment for several cancers and benign dermatoses. An overview of the characteristics of acute and chronic cutaneous effects of radiotherapy and its treatment is presented. A current overview of benign dermatoses after radiotherapy, presently only dispersedly published in the literature, is given with the mean age of occurrence, dose of radiotherapy, and their latency time calculated for those described more than 8 times. Benign dermatoses occurring most often after radiotherapy (>20 times described), ie, morphea, bullous pemphigoid, pemphigus vulgaris, and acneiform eruptions are discussed in more detail. Finally, dermatoses with a specific distribution related to the irradiated area are highlighted. This review provides an overview of cutaneous side effects of radiotherapy, especially of the benign dermatoses, as a supplement to the clinical knowledge of dermatologists, oncologists, and wound care specialists.

Published
2015

15. Post radiation skin tumors: basal cell carcinomas, squamous cell carcinomas and angiosarcomas. A review of this late effect of radiotherapy.

Author

Cuperus E, Leguit R, Albregts M, and Toonstra J

Subjects
Humans, Radiotherapy adverse effects, Carcinoma, Basal Cell etiology, Carcinoma, Squamous Cell etiology, Hemangiosarcoma etiology, Neoplasms, Radiation-Induced etiology, Skin Neoplasms etiology
Abstract

This review gives an overview of radiotherapy-induced malignant skin tumors as described in the present medical literature. Basal cell carcinomas are the most frequent post-radiation malignant skin tumors; however, specific incidence ratios are few and show ratios of 2%. Squamous cell carcinomas are briefly discussed, followed by post-radiation sarcomas. Most cases of post-radiation cutaneous sarcomas are angiosarcoma, malignant fibrous histiocytoma, leiomyosarcoma and fibrosarcoma. In cases of radiotherapy for breast cancer, angiosarcomas are the most frequently found malignant sarcomas worldwide (incidence 0.5%) in the irradiated area. We present 192 cases of angiosarcomas after radiotherapy for breast cancer. Also, the atypical vascular lesion, a benign vascular skin lesion occurring after radiotherapy, and the important differential diagnosis of angiosarcoma will be presented and discussed. Other skin tumors supposedly related to radiotherapy are occasionally published and summarized in this review. Because most radiation-induced malignant tumors occur many years after the initiation of radiotherapy and incidences are low, we suggest good instruction of patients regarding self control of the skin rather than a yearly follow-up.

Published
2013
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16. Steatocystoma multiplex, a rare distribution of a rare disease.

Author

Cuperus E, Leguit RJ, and Sigurdsson V

Subjects
Adult, DNA genetics, Diagnosis, Differential, Female, Genetic Predisposition to Disease, Humans, Keratin-17 genetics, Mutation, Pachyonychia Congenita genetics, Pachyonychia Congenita metabolism, Pachyonychia Congenita diagnosis, Rare Diseases
Published
2010
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