Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations. Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed. Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient.

Ustekinumab Drug Survival in Patients with Psoriasis: A retrospective Study of Real Clinical Practice.

Background and objectives: The efficacy and safety of ustekinumab have been proved in clinical trials. In daily clinical practice, knowing the factors that determine survival differences of biological drugs allows psoriasis treatment to be optimized as a function of patient characteristics. The main objectives of this work are to understand ustekinumab drug survival in patients diagnosed with plaque psoriasis in the Hospital Universitario Central de Asturias (HUCA Dermatology Department, and to identify the predictors of drug discontinuation. Materials and Methods: A retrospective hospital-based study, including data from 148 patients who were receiving ustekinumab (Stelara®) between 1 February 2009 and 30 November 2019, were collected. Survival curves were approximated through the Kaplan-Meier estimator and compared using the log-rank test. Proportional hazard Cox regression models were used for multivariate analyses while both unadjusted and adjusted hazard ratios (HR) were used for summarizing the studied differences. Results: The average duration of the treatment before discontinuation was 47.57 months (SD 32.63 months; median 41 months). The retention rates were 82% (2 years), 66% (5 years), and 58% (8 years). Median survival was 80 months (95% confidence interval. CI 36.9 to 123.01 months). The survival study revealed statistically significant differences between patients with arthritis (log-rank test, p < 0.001) and those who had previously received biological treatment (log-rank test, p = 0.026). The five-year prevalence in patients still under treatment was 80% (those without arthritis) and 54% (arthritis patients). In the multivariate analysis, only the patients with arthritis had a lower rate of drug survival. No statistically significant differences were observed for any of the other comorbidities studied. The first and second most frequent causes of discontinuation were secondary failure and arthritis inefficacy, respectively. Conclusion: Ustekinumab is a biological drug conferring high survival in plaque psoriasis patients. Ustekinumab survival is lower in patients with arthritis.

[Subcutaneous infection by Curvularia pallescens in a lung transplant recipient: First report in Spain]. / Micosis cutánea por Curvularia pallescens en un paciente trasplantado pulmonar: primer caso descrito en España.

BACKGROUND: Curvularia is a filamentous dematiaceous fungus increasingly recognized as a pathogen in immunocompromised patients. The most common clinical entities associated with this fungus are allergic sinusitis, cutaneous infection and keratitis. In this article, a report on the first clinical case of Curvularia pallescens cutaneous infection in Spain and its treatment is described. CASE REPORT: A 68 year-old man with a history of lung transplantation presented to Dermatology Unit due to a skin lesion in the knee that had been evolving for 6 months. A skin biopsy was performed for its study. In the histopathological study, an intense and non-specific inflammatory reaction in the dermis was observed, and with Grocott stain and periodic acid Schiff abundant septate hyphae and spores were found in the dermis. The culture of the sample revealed a filamentous fungus whose microscopic examination allowed to identify the genus as Curvularia. Using MALDI-TOF mass spectrometry and molecular identification, the fungus was finally identified as Curvularia pallescens. The patient underwent surgical resection of the lesion and was treated with posaconazole, evolving favorably. CONCLUSIONS: The species of Curvularia should be considered causal agents of fungal skin infections in immunosuppressed patients. This clinical case, which showed good clinical response after surgical resection and treatment with posaconazole, is the first described in Spain due to this species.

Micosis cutánea por Curvularia pallescens en un paciente trasplantado pulmonar: primer caso descrito en España / Subcutaneous infection by Curvularia pallescens in a lung transplant recipient: first report in Spain

ANTECEDENTES: El género Curvularia incluye hongos filamentosos dematiáceos cada vez más reconocidos como patógenos en pacientes inmunocomprometidos. Las entidades clínicas más comunes con las que se asocia este hongo son la sinusitis alérgica, la infección cutánea y la queratitis. En este trabajo se describe el primer caso descrito en España de infección cutánea por Curvularia pallescens y su tratamiento. CASO CLÍNICO: Un varón de 68 años con antecedente de trasplante pulmonar acudió al servicio de dermatología por presentar una lesión cutánea en la rodilla de 6 meses de evolución. Se realizó una biopsia cutánea para estudio. La histopatología mostró una intensa reacción inflamatoria inespecífica en la dermis y mediante la tinción de Grocott y ácido peryódico de Schiff se observaron abundantes hifas septadas y esporas en la dermis. El cultivo de la muestra reveló un hongo filamentoso cuyo examen microscópico permitió identificar el género como Curvularia. Mediante espectrometría de masas MALDI-TOF e identificación molecular, el hongo finalmente se identificó como Curvularia pallescens. Se realizó resección quirúrgica de la lesión y el paciente recibió tratamiento con posaconazol, con resolución clínica de la lesión. CONCLUSIONES: El género Curvularia debe ser considerado un agente causal de micosis subcutáneas en pacientes inmunodeprimidos. Este caso clínico constituye el primero descrito en España producido por esta especie, el cual presentó buena respuesta clínica tras resección quirúrgica y tratamiento con posaconazol

BACKGROUND: Curvularia is a filamentous dematiaceous fungus increasingly recognized as a pathogen in immunocompromised patients. The most common clinical entities associated with this fungus are allergic sinusitis, cutaneous infection and keratitis. In this article, a report on the first clinical case of Curvularia pallescens cutaneous infection in Spain and its treatment is described. CASE REPORT: A 68 year-old man with a history of lung transplantation presented to Dermatology Unit due to a skin lesion in the knee that had been evolving for 6 months. A skin biopsy was performed for its study. In the histopathological study, an intense and non-specific inflammatory reaction in the dermis was observed, and with Grocott stain and periodic acid Schiff abundant septate hyphae and spores were found in the dermis. The culture of the sample revealed a filamentous fungus whose microscopic examination allowed to identify the genus as Curvularia. Using MALDI-TOF mass spectrometry and molecular identification, the fungus was finally identified as Curvularia pallescens. The patient underwent surgical resection of the lesion and was treated with posaconazole, evolving favorably. CONCLUSIONS: The species of Curvularia should be considered causal agents of fungal skin infections in immunosuppressed patients. This clinical case, which showed good clinical response after surgical resection and treatment with posaconazole, is the first described in Spain due to this species

Expression of the CXCL12/CXCR4 chemokine axis predicts regional control in head and neck squamous cell carcinoma.

Expression of the CXCL12/CXCR4 chemokine axis has been related with the appearance of metastatic recurrence survival, including regional and distant recurrence, in patients with head and neck squamous cell carcinoma (HNSCC). RT-PCR was used to determine mRNA expression levels of CXCL12 and CXCR4 in biopsy tumor samples in 111 patients with HNSCC. Five-year regional recurrence-free survival for patients with low CXCR4 expression (n = 39, 31.5 %) was 97.4 %, for patients with high CXCR4/high CXCL12 expression (n = 22, 19.8 %) it was 94.7 %, and for patients with high CXCR4/low CXCL12 expression (n = 50, 45.0 %) it was 63.3 %. We found significant differences in the regional recurrence-free survival according to CXCR4/CXCL12 expression values (P = 0.001). HNSCC patients with high CXCR4 and low CXCL12 expression values had a significantly higher risk of regional recurrence and could benefit from a more intense treatment of lymph node areas in the neck.

Hysteroscopic hydrosalpinx occlusion with Essure device in IVF patients when salpingectomy or laparoscopy is contraindicated.

OBJECTIVE: To evaluate, in patients with hydrosalpinges, the effect on in vitro fertilization (IVF) outcome of the insertion by hysteroscopy of an intratubal blocking device, in cases where laparoscopic salpingectomy or laparoscopy was contraindicated. STUDY DESIGN: A prospective interventional case series study was conducted in fifteen women with unilateral (N=6) or bilateral hydrosalpinges (N=9) submitted for IVF. In all of them, laparoscopic salpingectomy was contraindicated. Hysteroscopic insertion of the Essure intratubal device in a consultation room setting was performed. IVF results were compared with those of women where hydrosalpinx was treated by laparoscopic salpingectomy (48 women, 76 cycles). RESULTS: There were no complications during or immediately after the procedure in any of the patients. There were four pregnancies from 16 embryo-transfers with own oocytes, one spontaneous pregnancy after unilateral Essure insertion, and one pregnancy after oocyte donation. In one case the hydrosalpinx grew and pelvic inflammatory disease developed 6 months after the insertion, requiring bilateral adnexectomy. Although not of statistical significance, IVF pregnancy rates were somewhat lower than in the laparoscopic salpingectomy group, which was attributed to the lower ovarian reserve before Essure insertion. CONCLUSION: The hysteroscopic insertion of the Essure intratubal device prior to IVF is a reasonable option in cases where laparoscopic salpingectomy is contraindicated. Larger series are required to assess pregnancy outcome.

Progressive facial hemiatrophy with associated osseous lesions.

Progressive facial hemiatrophy (PFH) is a rare condition characterized by the slow, progressive appearance of a unilateral facial atrophy that affects the skin, subcutaneous tissue, muscle and bone. We report the case of a 60-year-old female patient whose cutaneous symptoms commenced in 1987 in the form of a purplish erythema on the left side of her face and neck, which subsequently remitted giving rise to an indurated region in the left maxillary region. Since 1995 until the present day, she has developed facial hemiatrophy on the left side accompanied by progressive osseous reabsorption of the upper maxilla and left mandible with atrophy of soft tissue. The association of the onset of PFH with progressive osteolysis of the maxilla has not been previously reported in an adult patient.

Progressive facial hemiatrophy with associated osseous lesionsd

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Progressive facial hemiatrophy (PFH) is a rare condition characterized by the slow, progressive appearance of a unilateral facial atrophy that affects the skin, subcutaneous tissue, muscle and bone. We report the case of a 60-year-old femalepatient whose cutaneous symptoms commenced in 1987 in the form of a purplish erythema on the left side of her face and neck, which subsequently remitted giving rise to an indurated region in the left maxillary region. Since 1995 until the present day, she has developed facial hemiatrophy on the left side accompanied by progressive osseous reabsorptionof the upper maxilla and left mandible with atrophy of soft tissue. The association of the onset of PFH with progressive osteolysis of the maxilla has not been previously reported in an adult patient (AU)

[Acquired flat angiomas in the form of a port-wine stain]. / Angiomas planos adquiridos en mancha de vino de Oporto.

The development of flat angiomas in the form of a "port-wine stain" is an infrequent event in adults. We describe two cases of acquired flat angioma in the form of a "port-wine stain", which began in the second decade of life and grew slowly and steadily until reaching a large size. In the first case, it affected the front and back of the trunk, and in the second patient, the neck and left shoulder. Histopathology showed ectatic vessels in the papillary and reticular dermis, with no proliferation of endothelial cells.

Angiomas planos adquiridos en mancha de vino de Oporto / Acquired flat angiomas in the form of a port-wine stain

El desarrollo de angiomas planos en mancha de vino de Oporto en la edad adulta es un hecho infrecuente. Describimos 2 casos de angioma plano adquirido en mancha de vino de Oporto, que comenzaron en la segunda década de la vida y crecieron de forma lenta y progresiva hasta alcanzar una gran extensión. En el primer caso afectaba a la cara anterior y posterior del tronco, y en el segundo paciente, al cuello y el hombro izquierdo. La histopatología mostró vasos ectásicos en dermis papilar y reticular, sin proliferación de células endoteliales

The development of flat angiomas in the form of a «port-wine stain» is an infrequent event in adults. We describe two cases of acquired flat angioma in the form of a «port-wine stain,» which began in the second decade of life and grew slowly and steadily until reaching a large size. In the first case, it affected the front and back of the trunk, and in the second patient, the neck and left shoulder. Histopathology showed ectatic vessels in the papillary and reticular dermis, with no proliferation of endothelial cells

Escleromixedema: estudio ultraestructural / Scleromyxedema: ultrastructural study

El escleromixedema es un tipo de mucinosis que presenta unas características clínicas e histopatológicas bien definidas. En este artículo se describen los hallazgos observados con el microscopio electrónico de transmisión de un caso estudiado recientemente. Se trataba de una paciente de 56 años con una erupción de pápulas liquenoides localizadas en la cara, la parte superior del tronco y en los miembros. Se acompañaba de gammapatía IgG l. El estudio con el microscopio óptico mostró los hallazgos típicos de escleromixedema. El estudio de microscopia electrónica puso de manifiesto la existencia de un elevado número de fibroblastos con una gran actividad de síntesis y liberación de fibras de colágena y sustancia mucoide

Scleromyxedema is a type of mucinosis that presents with some well defined clinical and histopathological characteristics. We describe the findings observed with transmission electron microscopy in a case that we recently studied. The patient was a 56-year-old female with a localized eruption of lichenoid papules on the face, upper trunk and limbs. It was accompanied by IgG lambda gammopathy. Optical microscopy showed the findings typical of scleromyxedema. Electron microscopy revealed the existence of a large number of fibroblasts with high activity levels in the synthesis and release of collagen fibers and a mucoid substance

[Scleromyxedema: ultrastructural study]. / Escleromixedema: estudio ultraestructural.

Scleromyxedema is a type of mucinosis that presents with some well defined clinical and histopathological characteristics. We describe the findings observed with transmission electron microscopy in a case that we recently studied. The patient was a 56-year-old female with a localized eruption of lichenoid papules on the face, upper trunk and limbs. It was accompanied by IgG lambda gammopathy. Optical microscopy showed the findings typical of scleromyxedema. Electron microscopy revealed the existence of a large number of fibroblasts with high activity levels in the synthesis and release of collagen fibers and a mucoid substance.

Escleromixedema / Scleromyxedema

El escleromixedema es un tipo de mucinosis que se caracteriza por la presencia de pápulas liquenoides e induración difusa de la piel. En muchos casos se asocia a gammapatía monoclonal y trastornos sistémicos. Histológicamente se observan depósitos de mucina en dermis y un grado variable de fibrosis. Se describe un nuevo caso en el que hemos tenido oportunidad de estudiar su evolución a lo largo de 15 años. Se trataba de una paciente de 55 años y sexo femenino. El cuadro cutáneo comenzó hace 15 años en forma de pápulas liquenoides en las localizaciones típicas con edema y endurecimiento cutáneo. Se acompañaba de gammapatía monoclonal IgG . La enfermedad ha seguido un empeoramiento lento y progresivo con acentuación de las lesiones cutáneas y sistémicas que imposibilitaban la vida normal. Ha recibido diferentes tratamientos, respondiendo sólo inicialmente al clorambucilo y posteriormente a la asociación de ciclos de melfalán con prednisona (AU)

Síndrome cardiofaciocutáneo con acantosis nigricans / Cardiofaciocutaneous syndrome with acantthosis nigricans

Se describe un nuevo caso de síndrome cardiofaciocutáneo, y se hace especial referencia a la presencia de lesiones típicas de acantosis nigricans en axilas. Se trataba de un varón de 17 años que presentaba como rasgos generales retraso mental moderado, anomalías en el fenotipo craneofacial y miocardiopatía hipertrófica. Desde el punto de vista cutáneo mostraba queratosis folicular diseminada con alopecia cicatrizal en cejas, múltiples nevos pigmentarios, acantosis nigricans en axilas y cabello ensortijado (AU)

Síndrome cardiofaciocutáneo con acantosis nigricans / Cardiofaciocutaneous syndrome with acanthosis nigricans

Se describe un nuevo caso de síndrome cardiofaciocutáneo, y se hace especial referencia a la presencia de lesiones típicas de acantosis nigricans en axilas. Se trataba de un varón de 17 años que presentaba como rasgos generales retraso mental moderado, anomalías en el fenotipo craneofacial y miocardiopatía hipertrófica. Desde el punto de vista cutáneo mostraba queratosis folicular diseminada con alopecia cicatrizal en cejas, múltiples nevos pigmentarios, acantosis nigricans en axilas y cabello ensortijado (AU)