Two siblings with uncombable hair syndrome: A new pathogenic variant.

Two siblings presented with straw-colored, frizzy, and wiry hair. They had no associated abnormalities and no family history of abnormal hair. Trichoscopy showed the longitudinal groove in the hair shafts, characteristic of uncombable hair syndrome. Molecular genetic analysis revealed a new pathogenic variant (c.1374dup; p. Val459ArgfsTer15) in PADI3, not previously described.

Omalizumab as an alternative therapeutic tool in the treatment of bullous pemphigoid: A case report.

Bullous pemphigoid (BP) is an acquired autoimmune bullous disease characterized by autoantibodies against the hemidesmosomal proteins found in the basal keratinocytes of the basement membrane zone (BMZ): a 180 kDa protein (type XVII collagen) mainly and the 230 kDa antigen. There is such evidence that the antibodies against the BMZ components are not only of IgG type, but also this bullous disease may have IgE antibodies directed to the BMZ that contribute to the pathogenesis of the disorder. IgE is not only thought to contribute to the pathogenesis of BP, it has also been suggested that eosinophils play a role in the development of the first signs associated with BP. A humanized monoclonal antibody directed to IgE, omalizumab, is approved for the treatment of severe asthma and chronic spontaneous urticaria, and it may be useful in the treatment of BP in the first stages of the disease.

Subcutaneous panniculitis-like T-cell lymphoma: Clinical features, therapeutic approach, and outcome in a case series of 16 patients.

BACKGROUND: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous lymphoma of mature cytotoxic T cells. Initially, patients with SPTCL were treated with doxorubicin-based polychemotherapy. OBJECTIVE: To analyze clinical, biologic, immunophenotypical, molecular, imaging, treatment, and outcome data reflecting the current state of knowledge. METHODS: A retrospective multicenter study of 16 patients with SPTCL that was diagnosed between 1996 and 2016. RESULTS: The female-to-male ratio was 1.7. The median age at diagnosis was 46.5 years. Patients presented with multiple nodular or plaque-like lesions preferentially affecting the legs and/or trunk. Histopathology typically showed a lobular panniculitis with individual adipocytes surrounded by atypical lymphocytes, usually with a CD3+, CD4-, CD8+, CD56-, TIA1 cytotoxic granule associated RNA binding protein 1-positive phenotype and high proliferation rate. SPTCL was associated with autoimmune diseases in 25% of patients, and with the development of hemophagocytic syndrome in 18% of patients. Oral steroids alone or in combination with low-dose methotrexate or cyclosporine A were the most common initial treatment, achieving a complete response in 85% of the treated patients. The median follow-up time was 14 months. The 5-year disease-specific survival rate was 85.7%. LIMITATIONS: This was a retrospective study. CONCLUSIONS: SPTCL has an excellent prognosis. Immunosuppressive agents can be considered for first-line treatment.

Urticarial vasculitis after meningococcal serogroup B vaccine in a 6-year-old girl.

The first vaccine that shows significant potential in providing broad coverage against serogroup B meningococcal disease has recently been approved. Because of its newness, potential adverse events need to be reported. Here we report a case of urticarial vasculitis, a rare disease in children, in probable relationship with the novel vaccine.

Dramatic resolution of disseminated pyoderma gangrenosum associated with monoclonal gammopathy after therapy with bortezomib and dexamethasone.

Pyoderma gangrenosum (PG) is an uncommon inflammatory and ulcerative skin disorder, which is commonly associated with systemic conditions such as inflammatory bowel disease, arthritis and haematological malignancies. It is widely stated that control of the underlying diseases may lead to resolution of PG. However, standard of care dictates that patients suffering with monoclonal gammopathy of undetermined significance or smouldering multiple myeloma (MM) should not receive therapy unless they progress to symptomatic MM. Here, we report a woman in her 40s with a disseminated corticodependent PG, resistant to any treatment attempted, including anti-tumoral necrosis factor (TNF) therapy in which bortezomib-dexamethasone regimen results in dramatic healing of all lesions in only a month. This case supports the belief that treatment of the underlying monoclonal gammopathy could be necessary when PG presents as an aggressive, non-responding skin disease.