Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

Objective: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p.Met41, with recent studies showing that these variants are frequent causes of recurrent inflammation in older individuals.

Facial lichen striatus in children: retracing the lines of Blaschko.

We report seven patients with facial lichen striatus along the lines of Blaschko who presented to our pediatric dermatology unit between 2003 and 2009. The mean age of diagnosis was 4.6 years (range 2.

Effect of probiotic bacteria on microbial host defense, growth, and immune function in human immunodeficiency virus type-1 infection.

The hypothesis that probiotic administration protects the gut surface and could delay progression of Human Immunodeficiency Virus type1 (HIV-1) infection to the Acquired Immunodeficiency Syndrome (AIDS) was proposed in 1995. Over the last five years, new studies have clarified the significance of HIV-1 infection of the gut associated lymphoid tissue (GALT) for subsequent alterations in the microflora and breakdown of the gut mucosal barrier leading to pathogenesis and development of AIDS. Current studies show that loss of gut CD4+ Th17 cells, which differentiate in response to normal microflora, occurs early in HIV-1 disease.

Narrowband ultraviolet B phototherapy for the treatment of steroid-refractory and steroid-dependent acute graft-versus-host disease of the skin.

Background: Acute graft-versus-host disease (aGvHD) is a common complication of allogeneic stem cell transplantation. It is usually treated with high doses of corticosteroids and other immunosuppressive agents. When cutaneous features are predominant, narrowband ultraviolet B (NB-UVB) phototherapy may be an attractive option for its steroid-sparing effect.

Pompholyx and eczematous reactions associated with intravenous immunoglobulin therapy.

Introduction: Intravenous immunoglobulin (IVIG) is used to treat many inflammatory and autoimmune disorders and although generally well tolerated, cutaneous side effects occur.

Objective: We reviewed reports of pompholyx and eczematous reactions associated with IVIG.

Methods: A literature search was performed using the PubMed and MEDLINE databases with the search terms "intravenous immunoglobulin pompholyx," "intravenous immunoglobulin eczema," "intravenous immunoglobulin cutaneous adverse effects," "intravenous immunoglobulin cutaneous effects," "intravenous immunoglobulin skin effects," and "intravenous immunoglobulin adverse effects.

Cryptococcal panniculitis in an immunocompromised patient: a case report and review of the literature.

Cryptococcus neoformans is a dimorphic fungus known to cause disease predominately in immuno-compromised patients. It is not uncommon for cryptococcal disease to manifest within the cutaneous tissues of these patients, and it can have drastically varied presentations, from ulcerated nodules to a more subtle cellulitis. We present a patient who underwent a cardiac transplant and developed a fever and mildly erythematous, indurated plaques on his legs and flank several years later.

Necrolytic acral erythema as a cutaneous marker of hepatitis C: report of two cases and review.

Necrolytic acral erythema (NAE) is a member of the necrolytic erythemas, which include necrolytic migratory erythema (NME), acrodermatitis enteropathica, and various dermopathies secondary to nutritional deficiencies. NAE is distinct from the other necrolytic erythemas by virtue of its consistent association with hepatitis C (HCV) together with the acral distribution of its lesions, in particular, dorsal hands and feet. Although its etiology is unknown, NAE has been reported to respond to zinc replacement, suggesting a causal relationship.

Evaluation of the long-term tolerability and clinical benefit of vorinostat in patients with advanced cutaneous T-cell lymphoma.

Introduction: Vorinostat, an orally active histone deacetylase inhibitor, was approved in October 2006 by the US Food and Drug Administration for the treatment of cutaneous manifestations of cutaneous T-cell lymphoma (CTCL) in patients with progressive, persistent, or recurrent disease during or after treatment with 2 systemic therapies.

Patients And Methods: A multicenter, open-label phase IIb trial evaluated the activity and safety of vorinostat 400 mg orally daily in patients with > or = stage IB, persistent, progressive, or treatment-refractory mycosis fungoides or Sézary syndrome CTCL subtypes. We report the safety and tolerability of long-term vorinostat therapy in patients who experienced clinical benefit in the previous phase IIb study.

Development of lichen sclerosus et atrophicus while receiving a therapeutic dose of imatinib mesylate for chronic myelogenous leukemia.

Background: Imatinib mesylate (Gleevec) is a selective Bcr-Abl protein tyrosine-kinase inhibitor, and it also inhibits the receptor tyrosine kinases for stem cell factor (c-kit) and platelet-derived growth factor (PDGFR). It is being investigated for use in the treatment of sclerosing dermatoses.

Observation: A 44-year-old woman with a history of chronic myelogenous leukemia (CML) was referred for the evaluation of a pruritic eruption that developed over 6 months.