Postvaccinal, corticosteroid-resistant bullous pemphigoid in infancy: treatment with intravenous immunoglobulin.

Bullous pemphigoid is an autoimmune subepidermal blistering disorder that typically affects elderly adults but can also occur in childhood. We report on a 3-month-old boy who developed bullous pemphigoid 1 week after the second routine administration of a hexavalent vaccine. The disease was resistant to standard therapies (including oral and topical corticosteroids) but was relieved by intravenous immunoglobulin treatment.

Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.

Background: NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease.

Aims And Methods: We evaluated the recently developed Multiplex Ligation-dependent Probe Amplification (MLPA) method to assess the relative copy number of genes.

[Assessment of the management of acute otitis media in children by family practitioners in the North of France].

Objectives: To assess the management of acute otitis media in children by paediatricians and general practitioners in the North of France compared with the AFSSAPS (Agence Française de Sécurité Sanitaire des Produits de Santé) guideline's recommendations of 2005.

Methodology: All eligible family paediatricians (n=68) and a group of general practitioners (n=200) first received a phone call invitation to participate to the study. The volunteers responded to a questionnaire by phone call.

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present study were (i) detection of NKX2-1 mutations in patients with CH associated with pneumopathy and/or BHC, (ii) functional analysis of new mutations in vitro and (iii) description of the phenotypic spectrum of brain-lung-thyroid syndrome. We identified three new heterozygous missense mutations (L176V, P202L, Q210P), a splice site mutation (376-2A-->G), and one deletion of NKX2-1 at 14q13.

Childhood pustular psoriasis associated with Panton-Valentine leukocidin-producing Staphylococcus aureus.

We report the association of a generalized pustular psoriasis and infection by Staphylococcus aureus which produced Panton-Valentine leukocidin in a 5-year-old child. Another S. aureus strain with the same toxin gene content was also isolated among three family members presenting with cutaneous lesions.

Is agranulocytosis following infectious mononucleosis caused by autoimmunity?

A patient developed agranulocytosis after Epstein-Barr infection. Bone marrow examination revealed normal myelopoiesis with reduced mature neutrophil polymorphonuclear cells. IgG-specific antineutrophil antibodies (anti-HNA-1a) were found in serum and on polymorphonuclear cells, suggesting that the agranulocytosis after infectious mononucleosis was caused by an autoimmune mechanism.

Atypical varicella with palm and sole involvement.

Varicella is a common disease characterized by a typical presentation. We report a case of an atypical presentation of varicella with a centrifugal distribution, eruption with many vesicles, no pustular stage in evolution and distal involvement. There were none of the known modifying factors (immunosuppression, skin disease, injury or sun exposure).