Skin cancer in congenital X-linked agammaglobulinaemia

Sá, Ana; Palha, Vanessa; Condez, Elisa; Oliveira, Narciso

doi:10.1136/bcr-2020-240523

Cited by 1 publication

(1 citation statement)

References 5 publications

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“…Cutaneous manifestations in XLA mainly present with severe skin infections like chronic skin ulcers, refractory cellulitis, skin abscesses, skin edema and discoloration and folliculitis [ 142 , 143 ]. Wheal and erythema, typical atopic dermatitis, and skin cancer were also reported in XLA patients [ 144 , 145 , 146 ].…”

Section: Immunodeficiency Related Diseasesmentioning

confidence: 99%

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Pan

Zhao

2022

Diagnostics

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Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, STAT5B deficiency, Omenn syndrome, atypical complete DiGeorge syndrome; metabolic disorders such as acrodermatitis enteropathy, multiple carboxylase deficiency, prolidase deficiency; and other rare syndromes like severe dermatitis, multiple allergies and metabolic wasting syndrome, Netherton syndrome, and peeling skin syndrome frequently perform with eczema-like lesions. These genodermatosis may be misguided in the context of eczematous phenotype. Misdiagnosis of severe disorders unavoidably affects appropriate treatment and leads to irreversible outcomes for patients, which underlines the importance of molecular diagnosis and genetic analysis. Here we conclude clinical manifestations, molecular mechanism, diagnosis and management of several eczema-related genodermatosis and provide accessible advice to physicians.

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