Treatment with bisphosphonates in severe hypercalcemia due to subcutaneous fat necrosis in an infant with hypoxic-ischemic encephalopathy.

Subcutaneous fat necrosis (SCFN) is a rare entity that occurs generally in term or post-term newborns exposed to perinatal stressing factors. These cutaneous lesions appear during the first weeks of life and their potential complications, such as hypercalcemia, determine the prognosis. We present a full-term newborn with SCFN lesions that appeared at the age of 12 days and who, 1 week later, developed moderate hypercalcemia. In our patient, the standard treatment was not enough to normalize calcemia and, in order to prevent secondary effects, etidronate therapy was initiated and it successfully normalized calcium levels. When SCFN is diagnosed, it is important to detect early hypercalcemia and treat it aggressively. This case provides further evidence of etidronate as an alternative and effective treatment for moderate-severe hypercalcemia.

[Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society]. / Documento de Consenso de la Sociedad de Infectología Pediatrica y la Sociedad de Reumatología Pediatrica sobre el diagnóstico diferencial y el abordaje terapéutico de la fiebre recurrente.

Recurrent fever is a relatively common problem during childhood. Diagnosis is often easy and related to mild viral infections. However a small proportion of these cases originate from an underlying non-infectious process that is generally difficult to diagnose. In this paper we describe the differential diagnosis of recurrent or periodic fever versus other processes, with especial attention to autoinflammatory disorders (AD). AD are alterations of innate immunity, and they have been recently classified as an immunodeficiency. Anyhow, since infections are not present, these processes are different to the classic primary immunodeficiency. An important part of AD is of known genetic aetiology. The symptoms originate from an underlying inflammatory process and can have different clinical expressions. One of the most relevant groups is the hereditary syndromes of periodic fever. This group of diseases associates recurrent fever and several clinical symptoms with a relative periodicity, separated by intervals free or almost free of symptoms. We include the diagnostic criteria for some processes as well as the characteristics that should, eventually, lead to a genetic study. Although treatment should be individualised, we also include some general recommendations.

[The clinical spectrum of cutaneous neonatal lupus erythematosus]. / Espectro clínico del lupus eritematoso neonatal cutáneo.

BACKGROUND: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. OBJECTIVE: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. METHODS: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006. RESULTS: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male:female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. CONCLUSIONS: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease.

[Tumor necrosis factor receptor-associated periodic syndrome]. / Síndrome periódico asociado al receptor del factor de necrosis tumoral.

Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abdominal symptoms may also be present. We describe the case of a 4-year-old boy with recurrent inflammatory episodes, fever and cutaneous symptoms who was diagnosed with TRAPS. We review the clinical and laboratory findings, genetic diagnosis, and treatment approach in this disease.