Cutaneous manifestations of genodermatoses and primary immunodeficiency

Lewis, Daniel; Wu, JH; Boyd, McKenna; Duvic, Madeleine; Feldman, Steven R.

doi:10.5070/d3256044442

Cited by 5 publications

(6 citation statements)

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“…Skin manifestations have been reported in 40%-70% of the patients with IEI, and they are among the presenting features in majority of them (3)(4)(5)(6)(7)(8). There are only a few studies that have focused on the whole spectrum of cutaneous manifestations seen among IEI patients (4)(5)(6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

Al‐Herz

Zainal

Nanda³

2021

Front. Immunol.

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Background and ObjectivesReports on skin manifestations in inborn errors of immunity (IEI) are based on retrospective analysis, small series, or isolated case reports. The present prospective study aimed to determine the spectrum of skin manifestations in children with IEI and their relevance to specific molecular defects.Materials and MethodsThe data were obtained from the Kuwait National Primary Immunodeficiency Disorders Registry during the period of 2004–2020.ResultsA total of 313 pediatric cases of IEI, 71% diagnosed at molecular level, were registered with a cumulative follow-up period of 29,734 months. Skin manifestations were seen in 40.3% of the patients, and they were among the presenting manifestations in 33%. Patients with skin manifestations were older at both onset and diagnosis ages of IEI symptoms, but this was statistically significant for the latter only. The diagnosis delay was significantly longer in patients with skin manifestations. There was a statistically significant association between having skin manifestations and IEI category, being more common in patients with complement deficiencies, combined immunodeficiencies, and diseases of immune dysregulation. There was no statistically significant association between having skin manifestations and both gender and survival. Skin infections were the most frequent manifestations followed by eczema and autoimmune associations. Among IEI with more than 10 cases, skin lesions were a consistent finding in dedicator of cytokinesis 8 (DOCK8) deficiency, hyper IgE syndrome, ataxia-telangiectasia, and recombination activation gene (RAG)1 deficiency.ConclusionsSkin manifestations are common in IEI patients, and they had significant diagnosis delay and referral to specialists. Improvement of awareness about IEI is needed among pediatricians and dermatologists.

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Section: Introductionmentioning

confidence: 99%

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

Al‐Herz

Zainal

Nanda³

2021

Front. Immunol.

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“…These disorders involve an absence of ß2-integrin subunit (CD18), which prevents neutrophils aggregation [11]. Neutrophils are a vital part of the cellular host defense against bacterial infections, whereby neutrophil count bellow 500/mm3 cause the greatest risk of bacterial infections [13]. Two cases of our study (Case 1 and 2) had neutropenia on the first days of admission, which resolved after treatment.…”

Section: Discussionmentioning

confidence: 81%

Ecthyma Gangrenosum in Three Unrelated Patients with Combined Immunodeficiency

2023

JCPCCR

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Background: Ecthyma Gangrenosum (EG) is a necrotizing vasculitis characterized by cutaneous manifestation ranging from a nodule or papule to necrotic ulceration with surrounding erythema, especially with black eschar or central crust. The most common pathogen that causes EG is Pseudomonas aeruginosa (PA). PA is an opportunistic pathogen with predominance incidence among patients with primary immunodeficiency with hypo or agammaglobulinemic, malignancies, and acquired immune deficiency. Case Presentation: In this case study, we present three unrelated patients (three male toddlers, mean age: 0.75 years) with the primary manifestation of EG, who underwent immunological assessment and were diagnosed with combined immunodeficiency. All patients were alive although EG has a high mortality rate, the prognosis depends on the host and the degree of immunosuppression. A history of Persistent fever followed by skin lesions was common in our cases. Surprisingly, the initial immunological assessment reported different cellular and humoral immune deficiencies with the overall diagnosis of combined immunodeficiency based on the ESID criteria. For patients suspected of EG, early diagnosis and administration of appropriate systemic antibiotic therapy can considerably reduce morbidity and potential mortality. Conclusions: This case report illustrates the importance of immunodeficiency evaluation in patients with a skin lesion and considers pseudomonas aeruginosa culture for initiating appropriate antipseudomonal antibiotic therapy. Although recent studies show high EG-related mortality with predisposing factors, hopefully, due to appropriate intravenous antibiotics and immunoglobulin therapy, all patients remained alive.

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“…Bu bulgularla beraber özellikle büyüme geriliği, çoklu sistem tutulumu, rekurrent ve tedaviye dirençli (refrakter) bir bulgu mevcut ise mutlaka PİY hastalığı ekarte edilmelidir. [43][44][45][46][47][48][49] Sakarya Tıp Derg s 2022;12(2):349-354…”

Section: Akılda Kalması Gereken Mesajlarunclassified

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Özdemir¹

2022

Sakarya Medical Journal

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Primer immün yetmezlik hastalık tipleri günümüzde bilindiği gibi 450 hastalığı geçmiş bulunmaktadır. Farkındalığın artması ve tanı yöntemlerinin gelişmesi ile nadir olarak görülmekten çıkmışlar ve sık görülen hastalıklar haline gelmeye başlamışlardır. Bu hastalıklara cilt bulguları açısından yaklaşmak ve tanımak bu derlemenin asıl amacıdır. Primer immün yetmezlik hastalıklarının 10 uyarıcı işaretlerinden ikisi cilt bulgularından olmakla beraber sadece (bakteriyel ya da fungal) enfeksiyöz cilt bulgularını düşündürtmektedir. Bunlardan ilki tekrarlayan derin cilt apseleri ve diğeri cilt üzerindeki persistan mantar enfeksiyonu (tinea / dermatofitoz) olmasıdır. Cilt bulgularının sık olarak primer immün yetmezlik hastalıklarında görüldüğü bilinmelidir. En sık enfeksiyonlara (bakteriyel) ait cilt bulguları görünmesine rağmen, onu enfeksiyöz olmayan (non-enfeksiyöz) tipte immüno-alerjik bulgu olarak egzama (atopik dermatit) izler. İmmüno-alerjik olmayan bulgulardan bazıları ise epidermal displazi, telenjiektazi vb. belirtilerdir. Bu deri belirtileri, bazen primer immün yetmezlik hastalığının ilk geliş bulgularından biri olabilir. Her zaman bu bulgular çok özgün de olmayabilir.

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Cutaneous manifestations of genodermatoses and primary immunodeficiency

Cited by 5 publications

References 0 publications

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

Ecthyma Gangrenosum in Three Unrelated Patients with Combined Immunodeficiency

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

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