Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis

Olaiwan, Amani; Chandesris, Marie-Olivia; Fraïtag, Sylvie; Lortholary, Olivier; Hermine, Olivier; Fischer, Alain; Prost, Y. De; Pïcard, Capucine; Bodemer, Christine

doi:10.1016/j.jaad.2010.09.714

Cited by 27 publications

(23 citation statements)

References 21 publications

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“…In this report we describe the first reported case of EBA associated with IPEX syndrome presenting in a neonate with associated autoimmune enteropathy, hypothyroidism, membranous glomerulonephritis, and Coombs-positive hemolytic anemia. The patient also initially demonstrated clinical and pathologic findings of an eosinophilic pustular folliculitis, similar to the early presentation of many patients with hyper-IgE syndrome (8). This case highlights the spectrum of dermatologic conditions associated with IPEX, including EBA, and emphasizes the importance of full immunologic evaluation before beginning immunosuppressant medication.…”

Section: Discussionsupporting

confidence: 56%

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita

Bis

Maguiness

Gellis

et al. 2015

Pediatric Dermatology

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We report the case of a 2-week-old boy who presented with a vesiculopustular, bullous eruption in the setting of autoimmune enteropathy, hypothyroidism, membranous nephropathy, Coombs-positive hemolytic anemia, and persistent eosinophilia. Immunologic testing revealed a deficiency of FOXP3-expressing regulatory T cells, and a diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome was made. Histologic analysis, immunofluorescence, and enzyme-linked immunosorbent assay confirmed the bullous eruption as epidermolysis bullosa acquisita with associated collagen VII autoantibody production. The skin lesions responded to systemic immunosuppressant therapy and have regressed after allogeneic bone marrow transplantation.

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Section: Discussionsupporting

confidence: 56%

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita

Bis

Maguiness

Gellis

et al. 2015

Pediatric Dermatology

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“…In HIES unspecified, 4/7 patients with a papulopustular eruption had a positive S. aureus culture . S. aureus was also found positive in patients with AD‐HIES and a papulopustular rash (2/5), eczematous dermatitis (20/20), cold abscesses (20/20), or wounds (3/4) . Renner et al described that skin abscesses were frequently due to S. aureus infections in AR‐HIES.…”

Section: Resultsmentioning

confidence: 97%

Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

Wit

Brada

Veldhuizen

et al. 2018

Allergy

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Primary immunodeficiency diseases (PIDs) are characterized by an increased risk of infections, autoimmunity, autoinflammation, malignancy, and allergic disorders. Skin disorders are also common clinical features in PIDs and may be among the presenting manifestations. Recognition of specific PID-associated skin conditions in combination with other clinical features as described in the currently used warning signs could raise suspicion of an underlying PID. We aimed to provide a systematically obtained overview of skin disorders and their prevalence in PIDs. Secondary, the prevalence of Staphylococcus (S.) aureus-associated skin disorders and atopy was reviewed, as these are the most prominent skin features in PIDs. A systematic search was performed in EMBASE, MEDLINE, Web of Science, Cochrane, and Google Scholar (up to May 9, 2018). All original observational and experimental human studies that address the presence of skin disorders in PIDs were selected. We rated study quality using the Institute of Health Economics Quality Appraisal Checklist for Case Series Studies. Sixty-seven articles (5030 patients) were included. Study quality ranged from 18.2% to 88.5%. A broad spectrum of skin disorders was reported in 30 PIDs, mostly in single studies with a low number of included patients. An overview of associated PIDs per skin disorder was generated. Data on S. aureus-associated skin disorders and atopy in PIDs were limited. In conclusion, skin disorders are prominent features in PIDs. Through clustering of PIDs per skin disorder, we provide a support tool to use in clinical practice that should raise awareness of PIDs based on presenting skin manifestations.

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“…It is also important to consider hyper-IgE syndrome, a rare primary immunodeficiency disorder that shares many clinical features with EPFI, such as the existence of pustular lesions in cephalic areas, onset in the first months of life, and the occasional presence of histologic eosinophilic folliculitis. 38 However, these immunodeficient babies present with other associated findings, including IgE levels elevated 10 times above normal values. Although EPFI has not been associated, to date, to any underlying disease before or subsequent to its diagnosis, it is advisable to monitor patients with EPFI, as the majority of children with hyper-IgE syndrome are initially given the diagnosis of EPFI.…”

Section: Resultsmentioning

confidence: 99%

Eosinophilic pustular folliculitis of infancy: A series of 15 cases and review of the literature

Hernández‐Martín

Nuño-González

Colmenero

et al. 2013

Journal of the American Academy of Dermatology

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Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis

Cited by 27 publications

References 21 publications

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita

Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

Eosinophilic pustular folliculitis of infancy: A series of 15 cases and review of the literature

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