31 documents found, page 1 of 4

Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-Year Exper...

Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpa...

Hemophagocytic Lymphohistiocytosis in an Adolescent with NLRP12‐Related Autoinf...

Case Report: Patient with Deficiency of ADA2 Presenting Leukocytoclastic Vascul...

Ectodermal Dysplasias

Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn helps to explain clinical signs, with variability in severity, associated non-ectodermal abnormalities and overlap seen in many patients. We herein review the curr...

Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene

C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.

Sirolimus in the Treatment of Cystic Lymphangioma in a Pediatric Patient

Cystic lymphangioma (CL) is a rare benign tumor, which occurs typically during childhood, with craniofacial, cervical or axillary being the most common locations. Lymphangiomas management can be challenging due to their permeative growth throughout tissue layers. Sirolimus is an immunosuppressive and antitumor agent that can inhibit abnormal vascular proliferation by blocking the mTOR/PI3K pathway. It is typica...

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of...

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure...

Atypical presentation of erythema multiforme

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

nborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation...

In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndr...