Érythrodermie révélatrice d’un syndrome IPEX Publication date: Available online 21 June 2019 Source: Annales de Dermatologie et de Vénéréologie Author(s): M. Bachelerie, E. Merlin, F. Beltzung, F. Franck, J. Joubert, T. Hall, S. Fraitag, M. D’Incan RésuméIntroductionLes syndromes d’immunodéficience congénitale sont rares et leur pronostic est mauvais. Ils débutent parfois par des signes cutanés isolés qui peuvent égarer le diagnostic et retarder une prise en charge spécifique. Nous présentons un cas de syndrome IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome) qui illustre cette situation.ObservationUn enfant de deux mois et demi était vu pour une éruption psoriasiforme. Malgré des applications de dermocorticoïdes, les lésions évoluaient rapidement vers une érythrodermie ichtyosiforme. La biopsie cutanée trouvait des nécroses kératinocytaires associées à un infiltrat lymphocytaire dermique dense, CD8+, épidermotrope. Les taux d’éosinophiles sanguins et d’IgE totales étaient élevés. Par la suite apparaissait une entéropathie avec diarrhées profuses, un choc hypovolémique et une septicémie entraînant un arrêt cardio-respiratoire. La présence de la mutation du gène FOXP3 conduisait au diagnostic de syndrome IPEX. L’évolution était finalement favorable après greffe de moelle allogénique.DiscussionLe syndrome IPEX comporte principalement une entéropathie sévère, des manifestations dermatologiques et un diabète de type I. Les symptômes débutent habituellement en période néonatale précoce et l’évolution est souvent létale. Les lésions cutanées peuvent prendre un aspect eczématiforme, psoriasiforme ou ichtyosiforme. Elles constituent parfois le premier signe de la maladie et le diagnostic d’une dermatose inflammatoire bénigne peut être porté à tort. C’est le caractère sévère de la dermatose et sa résistance aux dermocorticoïdes qui doivent alerter le clinicien.ConclusionLa survenue d’une dermatose néonatale rapidement évolutive et résistante aux dermocorticoïdes doit inciter à la réalisation d’une biopsie cutanée précoce. Si celle-ci montre un infiltrat lymphocytaire cytotoxique avec nécroses kératinocytaires, elle orientera vers le diagnostic d’un déficit immunitaire primitif et permettra d’entreprendre rapidement un traitement spécifique.SummaryBackgroundPrimary immunodeficiencies are rare and frequently life-threatening conditions in the first year of life. They may present with isolated skin manifestations and the absence of other clinical signs may delay diagnosis and management of the disease. Herein we describe a case of IPEX syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome) that illustrates this situation.Patients and methodsA 2.5-month-old boy was seen with a psoriasiform eruption. Despite applications of topical steroids, skin lesions progressed to severe exfoliative ichtyosiform erythroderma. A skin biopsy showed keratinocyte necrosis with a dense, epidermotropic, lymphocytic CD8+ infiltrate. The infant presented increased serum IgE and eosinophilia. He developed an enteropathy with severe and profuse diarrhea, septicemia and hypovolemic shock that led to sudden cardiac arrest. DNA analysis revealed a mutation in the FOXP3 gene, confirming IPEX syndrome. A favorable outcome was achieved following allogeneic bone marrow transplant.DiscussionIPEX syndrome is characterized by early secretory enteropathy with profuse diarrhea, dermatitis and diabetes mellitus. Onset usually occurs within the first weeks or months of life, and the natural course of the disease is often lethal. Cutaneous manifestations appear to be mostly eczematiform, psoriasiform or ichthyosiform. These may be the first sign of the disease and a common inflammatory skin disorder may be wrongly diagnosed. The severity of the lesions and their limited response to topical steroids should alert the clinician.ConclusionThe early onset of severe cutaneous manifestations with persistent lesions and poor response to topical steroids should lead to an early skin biopsy. If histopathological changes show a cytotoxic lymphocytic infiltrate with keratinocyte necrosis, a diagnosis of primary immunodeficiency must be considered enabling rapid intitation of specific management. |
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Τετάρτη 10 Ιουλίου 2019
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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Ετικέτες
00302841026182,
00306932607174,
alsfakia@gmail.com,
Anapafseos 5 Agios Nikolaos 72100 Crete Greece,
Medicine by Alexandros G. Sfakianakis
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