Érythrodermie révélatrice d’un syndrome IPEX

Bachelerie, M.; Merlin, Étienne; Beltzung, Fanny; Franck, F.; Joubert, James R.; Hall, Toby; Fraïtag, Sylvie; D’Incan, M.

doi:10.1016/j.annder.2019.04.026

Cited by 4 publications

(3 citation statements)

References 15 publications

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“…Dermatological manifestations are present in about 50% of patients and vary morphologically from eczematous, psoriasiform to ichthyosiform in appearance, misleading clinicians towards primary inflammatory dermatoses 4 . These manifestations are resistant to topical corticosteroids, and may evolve to infantile erythroderma 5 . The morphological evolution of rash which was accompanied by CD8+ epidermotropic infiltrates and keratinocyte necrosis led to the suspicion of immunodeficient conditions like IPEX or Omenn syndrome 5 .…”

Section: Discussionmentioning

confidence: 99%

“…4 These manifestations are resistant to topical corticosteroids, and may evolve to infantile erythroderma. 5 The morphological evolution of rash which was accompanied by CD8+ epidermotropic infiltrates and keratinocyte necrosis led to the suspicion of immunodeficient conditions like IPEX or Omenn syndrome. 5 Our patient presented with skin findings of alopecia and vitiligo without chronic eczematous dermatitis.…”

Section: Discussionmentioning

confidence: 99%

“…5 The morphological evolution of rash which was accompanied by CD8+ epidermotropic infiltrates and keratinocyte necrosis led to the suspicion of immunodeficient conditions like IPEX or Omenn syndrome. 5 Our patient presented with skin findings of alopecia and vitiligo without chronic eczematous dermatitis. The presence of colitis, immune dysregulation, cytopenia of two cell lines, recurrent infections, and elevated IgE were important features of immune dysregulation that aided in the diagnosis of IPEX.…”

Section: Discussionmentioning

confidence: 99%

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Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome

Lee

Leong

2023

Pediatric Dermatology

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Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) is characterized by failure to thrive, severe chronic diarrhea, neonatal type 1 diabetes or thyroiditis, and eczematous dermatitis. We report a patient with infantile onset IPEX syndrome who developed vitiligo, alopecia, and chronic diarrhea. Awaiting stem cell transplant, he had multiple episodes of sepsis and succumbed at the age of 10 months. The constellation of symptoms is important to prompt clinicians to suspect this rare syndrome as early hematopoietic stem cell transplantation is the only cure for IPEX patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome

Lee

Leong

2023

Pediatric Dermatology

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Skin biopsies: their utility to allergists and immunologists

Fung¹,

Awasthi²,

Hwang³

et al. 2022

Allergic and Immunologic Diseases

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A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

Zhang

Liu

et al. 2021

Medicine

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Introduction: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare monogenic autoimmune disease, which is caused by mutations in the forkhead box protein 3 gene, can affect various systems. The typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases. However, some atypical phenotypes can easily be misdiagnosed clinically. Patient concerns: A 9-year-and-7-month old patient suffered from recurrent wheezing, hematochezia, and eczematous dermatitis at the age of six months, but did not have any manifestations of autoimmune endocrinopathy. The patient was treated with glucocorticoids for more than six years, and he developed bronchiectasis. Diagnosis: Whole exome sequencing revealed a hemizygous pathogenic mutation c.1010G>A, p. (Arg337Gln) in Forkhead box protein 3 gene (NM_014009.3). Interventions: The patient was treated with oral mycophenolate mofetil combined with inhaled budesonide formoterol for six months after diagnosis. Outcomes: The respiratory symptoms of the patient seemed to be controlled but eczematous dermatitis progressed, which led the patient to give up the treatment. Conclusion: Early diagnosis and treatment of IPEX are crucial. Lung injury may be a major problem in the later stages of atypical IPEX, and mycophenolate mofetil seems to control the respiratory symptoms, but could induce significant skin side effects.

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Érythrodermie révélatrice d’un syndrome IPEX

Cited by 4 publications

References 15 publications

Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome

Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome

Skin biopsies: their utility to allergists and immunologists

A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

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