Interferon receptor dysfunction in a child with malignant atrophic papulosis and CNS involvement

Becker, Lena‐Luise; Ebstein, Frédéric; Horn, Denise; Zouboulis, Christos C.; Krüger, Elke; Kaindl, Angela M.; Tietze, Anna; Eger, Angelika; Kallinich, Tilmann; Biskup, Saskia; Schmid, Simone; Stenzel, Werner; Münzfeld, Hanna; Blume-Peytavi, Ulrike

doi:10.1016/s1474-4422(22)00167-3

Cited by 5 publications

(11 citation statements)

References 6 publications

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“…The elevation in either erythrocyte sedimentation rate or C‐reactive protein found to be associated with systemic involvement in a current systematic review 8 might be a predictor for the development of systemic course in AP patients. In addition, whether pAP etiopathology is associated with a congenital interferonopathy, as proposed by Magro et al 1 and been corroborated by a current case/and a case series, 2,3 remains to be confirmed by clinical trials. Our study provides evidence for the occurrence and severity of this rare but potentially life‐threatening disease in paediatric patients.…”

Section: Discussionmentioning

confidence: 62%

“…The available data on pAP mainly derives from case reports and, interestingly, from articles mostly published in neurological journals (Table 1). 3,6,9–41 Atrophic papulosis is considered to affect middle‐aged adults. However, a substantial number of patients in our cross–sectional study were children (20%; 19/96).…”

Section: Discussionmentioning

confidence: 99%

“…However, the number of case reports of paediatric atrophic papulosis (pAP) is constantly growing (Table 1). 3,6,9–41 Our study aimed to investigate the early occurrence of the disease, including congenital manifestations, and to compare this to adult atrophic papulosis (aAP).…”

Section: Introductionmentioning

confidence: 99%

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Atrophic papulosis (Köhlmeier–Degos disease) in children and adolescents—A cross–sectional study and literature review

Zouboulis

Kaleta

Broniatowska

et al. 2023

Acad Dermatol Venereol

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Background: Atrophic papulosis (Köhlmeier-Degos disease, Degos disease) is a rare thrombo-obliterative microangiopathy of unknown pathogenesis. It usually affects people between the ages of 20 and 50. However, it can occur at any age. The condition is considered uncommon in children. Objective: Clinical characterization of paediatric patients with atrophic papulosis. Methods: Single-centre prospective cohort study with data derived from the international Degos Disease Registry collected between 2000 and 2021.Results: Among 96 registered patients with atrophic papulosis fulfilling the criteria, 19 were aged 0 to completed 17 years at the time of onset. The median age at the time of onset was 5 years, ranging from 0 to 1 years for girls to 8 years for boys. In contrast to adult patients (male-to-female ratio 1:2.2), there was a male predominance in paediatric patients with a male-to-female ratio of 1.7:1. Systemic involvement, in particular gastrointestinal, central nervous system and cardiac, was more frequent in children than in adult patients. There were no statistically significant differences between family history, multisystem involvement, mortality and median survival time in the two groups. Conclusions: Atrophic papulosis has some distinct features in the paediatric population. It presents an important and still under-recognized problem. Therefore, it is mandatory to pay attention to the typical skin lesions in combination with neurological or gastrointestinal symptoms in order to make a prompt and accurate diagnosis.How to cite this article: Zouboulis CC, Kaleta KP, Broniatowska E, Jarienė V, Nikolakis G. Atrophic papulosis (Köhlmeier-Degos disease) in children and adolescents-A cross-sectional study and literature review.

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Section: Discussionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 99%

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Atrophic papulosis (Köhlmeier–Degos disease) in children and adolescents—A cross–sectional study and literature review

Zouboulis

Kaleta

Broniatowska

et al. 2023

Acad Dermatol Venereol

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“…Two cases of congenital MAP are described, one with intracranial calcifications and peritonitis and a benign form in a baby girl who presented with cutaneous lesions since her birth [14]. CNS involvement in MAP is rather similar to the one observed in interferonopathies [15,16]. While AP mainly affects young people, mechanisms that participate to disease development are now presented.…”

Section: Epidemiologymentioning

confidence: 87%

“…It was also suggested that AP could be due to an acquired intrinsic defect in some endothelial or hematological genes, as paroxysmal nocturnal hemoglobinuria [19]. Recently, a variant in the IFNAR1 (type I interferon receptor) gene was described in a young girl with CNS involvement [16].…”

Section: Genetic Predispositionmentioning

confidence: 99%

Atrophic Papulosis

Robert¹,

Hot²

2022

Dermatology

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Background: Atrophic papulosis (AP) is a rare obliterating vasculopathy characterized by specific skin lesions. The etiology and the pathophysiology of the disease remain unclear. The treatment is still empirical, while the malignant form of the disease is associated with a poor prognosis. Summary: The underlying pathogenesis of AP includes three mechanisms with vasculopathy, coagulopathy, and endothelial dysfunction. Benign and malignant forms of AP are described. The benign form is confined to the skin. The pathognomonic skin lesions evolve over time and are large papules with an atrophic porcelain-white center and an erythematous rim. However, systemic involvement can occur months or years after the initial skin features. In this latter case, the associated mortality is very high with a mortality rate of over 65% in some series. Gastrointestinal involvement and central nervous system infarctions are the most frequent causes of death. Treatment is empirical with the use of antiplatelet therapy, anticoagulants, steroids, intravenous immunoglobulins, and immunosuppressive agents. Recent evidence shows that eculizumab, a complement inhibitor, is the most effective therapy in malignant AP with gastrointestinal involvement of the disease and should be combined with treprostinil to prevent relapse.

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Multiple drugs

2022

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Interferon receptor dysfunction in a child with malignant atrophic papulosis and CNS involvement

Cited by 5 publications

References 6 publications

Atrophic papulosis (Köhlmeier–Degos disease) in children and adolescents—A cross–sectional study and literature review

Atrophic papulosis (Köhlmeier–Degos disease) in children and adolescents—A cross–sectional study and literature review

Atrophic Papulosis

Multiple drugs

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