Marta Feito Rodríguez

Treatment of primary follicular mucinosis with imiquimod 5% cream.

Abstract:  Follicular mucinosis can develop as a primary form or associated with other benign or malignant skin conditions. We present a case of primary follicular mucinosis in which complete clinical remission was achieved after treatment with topical imiquimod 5%. Primary follicular mucinosis (PFM), also called idiopathic alopecia mucinosa, is considered a distinct entity, the clinical course of which is usually benign, but its pathogenesis remains unclear. There is no standard treatment for PFM, and a wide variety of therapies have been described. There are no previous reports of treatment of PFM with imiquimod.

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy

BACKGROUND Interferon regulatory factor 4 (IRF4) is a fundamental transcription factor in adaptive and innate immunity, due to its key role in the differentiation and functional specialization of lymphoid and myeloid lineage cells. In mouse models, IRF4 participates in bone marrow central tolerance, naïve B cell activation, germinal centre formation, plasma cell differentiation, immunoglobulin secretion, T helper subset differentiation, macrophage polarization, and dendritic cell differentiation, among other processes. OBJECTIVE To describe the first case of autosomal recessive human IRF4 deficiency. METHODS Clinical, histological, immunophenotypic and genotypic features of a patient with an autosomal recessive complete IRF4 deficiency are described. RESULTS We report the first case of autosomal recessive complete IRF4 deficiency in a 5-month-old Spanish girl caused by an uncommon mechanism for monogenic diseases, a maternal isodisomy of chromosome 6. The girl was homozygous for a maternal splicing mutation that abolished IRF4 expression and exhibited severe immunological as well as non-immunological abnormalities. Major clinical manifestations were severe dermatitis, gastro-intestinal and respiratory infections, failure to thrive, fever of unknown origin, hyperthyrotropinaemia, and severe fast hypoglycaemia. The immunological findings recapitulate many of the features observed in mouse models, including combined immunodeficiency with reduced total memory B and T cells, alteration of the κ/λ light chain ratio in immature B cells, absence of germinal centres in lymph nodes, absence of plasma cells and agammaglobulinaemia. Macrophage and T helper cell differentiation were also impaired. The patient died at 20 months of age of acute multiorgan failure after haematopoietic stem cell transplant. CONCLUSIONS This case demonstrates the relevance of IRF4 in the human immune system previously only inferred from mouse and cell models and expands our knowledge of the complexity of genetic mechanisms that lead to the appearance of primary immunodeficiencies.

Hidradenitis ecrina neutrofílica en un niño sano

Nino de un ano de edad que consulta en el mes de julio por lesiones cutaneas asintomaticas en region preesternal, con posterior extension a porcion proximal de miembros superiores e inferiores, tras un cuadro infeccioso de vias altas que no requirio tratamiento. A la exploracion presenta papulas y placas infiltradas, eritematoedematosas, no dolorosas, de 1-3 cm de diametro. No hay lesiones en las mucosas ni en el cuero cabelludo. Tampoco se objetivan lesiones palmoplantares.

Usefulness of high-frequency ultrasonography in the assessment of cutaneous lesions in children with hematologic malignancies

High‐frequency ultrasonography is a bedside tool increasingly used for the assessment of skin lesions, but there have been few reports about its importance in children with skin signs of hematologic disease. We present three cases to highlight the usefulness of high‐frequency ultrasonography in assisting with the diagnosis of these skin lesions.

Jellyfish-like sonographic pattern can help recognition of dermatofibrosarcoma protuberans. Report of 3 new cases and review of the literature

High‐frequency ultrasonography (HFUS) can help improve dermatofibrosarcoma protuberans (DFSP) recognition. We present three cases of DFSP in which a “jellyfish‐like” sonographic pattern was a useful adjunct in formulating the diagnosis. In addition, we review all DFSP ultrasound images available in the literature.