Cutaneous Markers of Primary Immunodeficiency Diseases in Children

Berron-Ruiz, Angelica; Berrón-Pérez, Renato; Ruíz-Maldonado, Ramón

doi:10.1046/j.1525-1470.2000.01721.x

Cited by 38 publications

(41 citation statements)

References 12 publications

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“…The cutaneous alterations were the presenting problem in 47% of the patients, higher than what is reported by Hermazewski and Webster (21%) and by Moin A, et al, (32%) [5]. Cutaneous finding may be the clue for the diagnosis of PIDs because of their early presentation, high frequency and their easy access for examination [5][6][7]. Skin infections are one of the most common cutaneous manifestations of PIDs [8].…”

Section: Discussionmentioning

confidence: 99%

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children

Elfaituri¹

2016

CDT

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Section: Discussionmentioning

confidence: 99%

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children

Elfaituri¹

2016

CDT

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“…Skin manifestations can affect 40% to 70% of patients with PID younger than seventeen years of age, and in a significant number of them, they are one of the first symptoms [10–13]. they are used as diagnostic criteria for HIES, WAS, immunodysregulation, and polyendocrinophathy enterophathy X-linked syndrome (IPEX).…”

Section: Discussionmentioning

confidence: 99%

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

et al. 2013

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Introduction. The presence of eczema and gastrointestinal manifestations are often observed in cow's milk allergy (CMA) and also in some primary immunodeficiency diseases (PID). Objective. To describe 7 patients referred to a tertiary allergy/immunology Center with a proposed diagnosis of CMA, who were ultimately diagnosed with PID. Methods. This was a retrospective study based on clinical and laboratory data from medical records. Results. Seven patients (6 males) aged between 3 mo and 6 y were referred to our clinic with a proposed diagnosis of CMA. They presented with eczema and/or gastrointestinal symptoms. Five were receiving replacement formula. All patients presented with other clinical features, including severe/recurrent infections unrelated to CMA, and two of them had a positive family history of PID. Laboratory tests showed immune system dysfunctions in all patients. Hyper-IgE and Wiskott-Aldrich syndromes, CD40L deficiency, severe combined immunodeficiency, X-linked agammaglobulinemia, transient hypogammaglobulinemia of infancy, and chronic granulomatous disease were diagnosed in these children. In conclusion, allergic diseases and immunodeficiency are a result of a different spectrum of abnormalities in the immune system and may be misdiagnosed. Educational programs on PID among clinical physicians and pediatricians can reduce the occurrence of this misdiagnosis.

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“…Of these, 69 % had skin infections, 29 % had eczema-dermatitis, and 44 % had other associated cutaneous conditions. In 79 % of this cohort, cutaneous abnormalities preceded and were the basis for the clinical immunologic diagnosis [62], demonstrating the relevance and high frequency of dermatologic manifestations in PIDD patients.…”

Section: Methodsmentioning

confidence: 99%

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

et al. 2013

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PurposePatients with primary immunodeficiency diseases (PIDD) may present with recurrent infections affecting different organs, organ-specific inflammation/autoimmunity, and also increased cancer risk, particularly hematopoietic malignancies. The diversity of PIDD and the wide age range over which these clinical occurrences become apparent often make the identification of patients difficult for physicians other than immunologists. The aim of this report is to develop a tool for educative programs targeted to specialists and applied by clinical immunologists.MethodsConsidering the data from national surveys and clinical reports of experiences with specific PIDD patients, an evidence-based list of symptoms, signs, and corresponding laboratory tests were elaborated to help physicians other than immunologists look for PIDD.ResultsTables including main clinical manifestations, restricted immunological evaluation, and possible related diagnosis were organized for general practitioners and 5 specialties. Tables include information on specific warning signs of PIDD for pulmonologists, gastroenterologists, dermatologists, hematologists, and infectious disease specialists.ConclusionsThis report provides clinical immunologists with an instrument they can use to introduce specialists in other areas of medicine to the warning signs of PIDD and increase early diagnosis. Educational programs should be developed attending the needs of each specialty.

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Cutaneous Markers of Primary Immunodeficiency Diseases in Children

Cited by 38 publications

References 12 publications

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

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