A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date, only 400 cases have been reported in the literature, and the severity of the features varies among individuals with the condition. Here, we describe a 55-year-old male who had been diagnosed with Bloom Syndrome during childhood due to the suggestive physical features such as short stature, chronic facial erythema, poikiloderma in face and extremities, microtia and microcephaly. However, the genetic test demonstrated that the patient carried two pathogenic variants resulting in compound heterozygous in the RECQL4 gene (c.2269C>T and c.2547_2548delGT). He subsequently developed a calcaneal osteosarcoma, which was successfully treated, and has currently been oncologic disease-free for 3 years.

Treatment of Complex Cutaneous Leishmaniasis with Liposomal Amphotericin B.

BACKGROUND: There is no consensus for the best treatment of complex cutaneous leishmaniasis (CL). We aimed to describe a cohort of CL, focusing on liposomal amphotericin B (L-AmB) treatment outcome. METHODS: We performed a retrospective study in Vall d'Hebron University Hospital (Barcelona, Spain). All patients with parasitologically proven CL diagnosed from 2012 to 2018 were included. RESULTS: The analysis included 41 patients with CL. The median age was 39 years (IQR 12- 66); 12 (29%) were children, and 29 (71%) were men. Regarding treatment, 24 (59%) received local treatment, whereas 17 (41%) had complex CL and were offered intravenous systemic treatment. Sixteen patients received L-AmB; eight (50%) had adverse events, and three (19%) discontinued treatment for safety reasons. All cases were considered cured within the first year post-treatment. CONCLUSIONS: L-AmB for complex CL showed no treatment failures, offering an alternative treatment option for patients with complex CL. Clinicians should pay close attention to the potential adverse events of L-AmB and adopt an active drug safety surveillance scheme to rapidly detect reversible side effects.

Paniculitis lúpica: características clínico-patológicas de una serie de 12 pacientes / Lupus panniculitis: Clinicopathological features of a series of 12 patients

Antecedentes y objetivo: La paniculitis lúpica (PL) es una forma infrecuente de lupus eritematoso cutáneo crónico, cuyo diagnóstico requiere una adecuada correlación clínico-patológica, especialmente si constituye la primera manifestación de lupus eritematoso (LE). Dependiendo del estado evolutivo de las lesiones, la biopsia puede mostrar cambios poco específicos que dificultan el diagnóstico. Existen pocas series publicadas sobre esta entidad. Aportamos la experiencia de nuestro centro en su diagnóstico y manejo. Materiales y métodos: Estudio clínico-patológico retrospectivo descriptivo de 12 casos diagnosticados de PL en nuestro servicio. Resultados: Todos los pacientes tenían placas y/o nódulos dolorosos recurrentes, característicamente localizados en la zona proximal de las extremidades, la cara y el cuero cabelludo. En la biopsia había paniculitis de predominio lobulillar con infiltrados linfoplasmocitarios. Esto, junto con la coexistencia de otras manifestaciones clínicas de LE y el estudio de expresión de CD123, permitió establecer el diagnóstico de PL. En 3 pacientes la PL fue la primera manifestación de LE. Conclusiones: La PL es una entidad de difícil diagnóstico. La presencia de otras manifestaciones clínicas y/o histológicas de lupus y la utilización de técnicas inmunohistoquímicas pueden ser útiles para el diagnóstico diferencial con otras paniculitis

Background and objective: Lupus panniculitis (LP) is a rare variant of chronic cutaneous lupus erythematosus, which diagnosis requires clinicopathological correlation, especially in those patients without any other manifestation of lupus erythematosus (LE). According to the phase when the biopsy is performed, histological findings can be non-specific. Few series have been published to date. Hence, we report our own experience in the diagnosis and management of this disease. Materials and methods: We conducted a retrospective descriptive clinicopathological study of 12 patients diagnosed in our centre. Results: All the patients had painful and recurrent plaques and/or nodules, with a predilection for proximal extremities, face and scalp. Histopathologic examination showed mostly lobular panniculitis and lymphoplasmacytic infiltrate. For the diagnosis, we also considered the coexistence of other clinical manifestations of LE as well as the expression of CD123 by immunohistochemistry. In 3 patients, LP was the first manifestation of LE. Conclusions: The diagnosis of LP can be difficult. The presence of other clinical and/or histological manifestations of LE along with immunohistochemistry techniques could help in the differential diagnosis with other panniculitis

Lupus panniculitis: Clinicopathological features of a series of 12 patients. / Paniculitis lúpica: características clínico-patológicas de una serie de 12 pacientes.

BACKGROUND AND OBJECTIVE: Lupus panniculitis (LP) is a rare variant of chronic cutaneous lupus erythematosus, which diagnosis requires clinicopathological correlation, especially in those patients without any other manifestation of lupus erythematosus (LE). According to the phase when the biopsy is performed, histological findings can be non-specific. Few series have been published to date. Hence, we report our own experience in the diagnosis and management of this disease. MATERIALS AND METHODS: We conducted a retrospective descriptive clinicopathological study of 12 patients diagnosed in our centre. RESULTS: All the patients had painful and recurrent plaques and/or nodules, with a predilection for proximal extremities, face and scalp. Histopathologic examination showed mostly lobular panniculitis and lymphoplasmacytic infiltrate. For the diagnosis, we also considered the coexistence of other clinical manifestations of LE as well as the expression of CD123 by immunohistochemistry. In 3 patients, LP was the first manifestation of LE. CONCLUSIONS: The diagnosis of LP can be difficult. The presence of other clinical and/or histological manifestations of LE along with immunohistochemistry techniques could help in the differential diagnosis with other panniculitis.

Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis.

Objectives: To analyse the influence of genetic alterations and differential expression of transcription intermediary factor 1 (TIF1) genes in the pathophysiology of cancer-associated myositis (CAM). Methods: Paired blood and tumour DNA samples from patients with anti-TIF1γ-positive CAM and from controls were analysed by whole-exome sequencing for the presence of somatic mutations and loss of heterozygosity (LOH) in their TIF1 genes. The genesis and maintenance of the autoimmune process were investigated immunohistochemically by studying TIF1γ expression in the different tissues involved in CAM (skin, muscle and tumour) based on the immunohistochemical H-score. Results: From seven patients with anti-TIF1γ-positive CAM, we detected one somatic mutation and five cases of LOH in one or more of the four TIF1 genes compared with just one case of LOH in tumours from TIF1γ-negative myositis patients (86% vs 17%; P = 0.03). Compared with type-matched control tumours from non-myositis patients, TIF1γ staining was more intense in tumours from anti-TIF1γ-positive patients (H-score 255 vs 196; P = 0.01). Also, TIF1γ staining in muscle was slightly more intense in anti-TIF1γ-positive than in anti-TIF1γ-negative myositis (H-score 22 vs 5; P = 0.03). In contrast, intense TIF1γ staining was detected in the skin of both myositis and control patients. Conclusion: Tumours from paraneoplastic anti-TIF1γ-positive patients showed an increased number of genetic alterations, such as mutations and LOH, in TIF1 genes. These genetic alterations, in the context of a high expression of TIF1γ in the tumour, muscle and skin of these patients may be key to understanding the genesis of paraneoplastic myositis.

Úlceras sobre placas psoriásicas en paciente con infección avanzada por el virus de la inmunodeficiencia humana / Ulcers on psoriatic plaques in a patient with advanced Human Immunodeficiency Virus infection

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Radiodermitis tras procedimientos diagnósticos-terapéuticos guiados por fluoroscopia / Radiodermatitis after fluoroscopy-guided diagnostic and therapeutic procedures

No disponible