Unilateral milia-type intradermal tophi associated with underlying urate subcutaneous deposition: an uncommon cutaneous presentation of gout.

Tophi develop during the most advanced clinical stage of gout, and are usually located on or around the joints. However, unusual skin features caused by intradermal and/or subcutaneous deposition of tophaceous material at locations other than articular regions have been reported. We present the case of a patient with a condition that has been recently termed 'miliarial gout'. which is only the second such case, to our knowledge. A 51-year-old woman, who had a chronic joint disease that had been diagnosed and treated as psoriatic arthritis, presented with multiple asymptomatic, yellowish-white, firm papules (1-3 mm in size) on erythematous areas on the outside of her left leg. On histological examination of a skin biopsy, uric acid crystals were seen in the dermis and subcutis. The patient also had a raised level of serum urate, consistent with a diagnosis of gout. Treatment with allopurinol led to rapid improvement. Intake of corticosteroids and diuretics was a possible triggering factor for the development of cutaneous tophi in this patient.

[Thymus carcinoid associated with type 1 multiple endocrine neoplasm syndrome]. / Carcinoide tímico asociado al síndrome de neoplasia endocrina múltiple tipo 1.

Thymus carcinoid tumors are unusual and can be differentiated from thymomas by clinical, histological and prognostic characteristics. The clinicopathological findings of a new case of carcinoid tumor of the thymus associated with type 1 multiple endocrine neoplasm, the presentation of which was conditioned by its metastasis, is herein presented.

Sprouty1 is a candidate tumor-suppressor gene in medullary thyroid carcinoma.

Medullary thyroid carcinoma (MTC) is a malignancy derived from the calcitonin-producing C-cells of the thyroid gland. Oncogenic mutations of the Ret proto-oncogene are found in all heritable forms of MTC and roughly one half of the sporadic cases. However, several lines of evidence argue for the existence of additional genetic lesions necessary for the development of MTC. Sprouty (Spry) family of genes is composed of four members in mammals (Spry1-4). Some Spry family members have been proposed as candidate tumor-suppressor genes in a variety of cancerous pathologies. In this work, we show that targeted deletion of Spry1 causes C-cell hyperplasia, a precancerous lesion preceding MTC, in young adult mice. Expression of Spry1 restrains proliferation of the MTC-derived cell line, TT. Finally, we found that the Spry1 promoter is frequently methylated in MTC and that Spry1 expression is consequently decreased. These findings identify Spry1 as a candidate tumor-suppressor gene in MTC.

Paciente diabética con hipertensión acelerada que ingresa con clínica de insuficiencia cardíaca / Diabetic patient with accelerated hypertension admitted to hospital with clinical signs of heart failure

Presentamos el caso de una paciente de 48 años diabética que ingresó en nuestro centro con clínica de fallo biventricular e hipertensión acelerada. Un análisis superficial del cuadro orientaba a esta hipótesis, ya que la paciente presentaba retinopatía hipertensiva de grado III, derrame pleural bilateral, severa disfunción diastólica comprobada por ecocardiografía y proteinuria atribuible a nefropatía hipertensiva o diabética. La evidencia de la existencia de elementos inexplicados (derrame pleural exudativo, anemia inflamatoria, velocidad de sedimentación glomerular y PCR elevadas) nos llevan a sospechar un proceso de mayor complejidad inflamatorio-sistémico subyacente que finalmente se confirma con unos anticuerpos antinucleares positivos titulo 1/1.280 patrón homogéneo y la realización de biopsia renal que muestra nefropatía lúpica de grado IV. Todo ello nos lleva a cambiar todo el enfoque diagnóstico (AU)