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Journals and Conferences
BACKGROUND Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis… (More)
BACKGROUND Organ transplant recipients are at an increased risk of nonmelanoma skin cancer. Few data concern heart transplantation and populations from southern Europe. METHODS A total of 1,329 patients who received their first kidney (1,062 subjects) or heart allograft (267 subjects) were included in a partly retrospective cohort study to evaluate the… (More)
BACKGROUND Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype-genotype analysis has suggested that EBS-MD is due mostly to genetic mutations affecting the central rod domain of plectin, and EBS-PA to… (More)
Relapsing polychondritis (RP) is a rare disease of unknown etiology characterized by recurrent episodes of inflammation resulting in the destruction of cartilaginous tissues. We describe a young girl with RP unresponsive to conventional therapy.
Congenital presentation of neonatal lupus erythematous is very rare. We describe an infant who had congenital neonatal lupus erythematosus with atrophic lesions on the face and scarring lesions on the trunk. All radiologic, virologic, and hematologic assays were normal. Skin biopsy specimen and immunofluorescence findings led us to suspect neonatal lupus, a… (More)
Inherited epidermolysis bullosa (EB) refers to a clinically and genetically heterogeneous group of rare disorders characterized by fragility of the skin and mucous membranes. Despite the preclinical development of different molecular and cell-based treatment strategies, no cure is still available for EB. Therefore it is important to establish the management… (More)
Here we report a lethal case of Netherton syndrome presenting with neurologic complications, hypernatremic dehydration, failure to thrive, and episodes of sepsis. Molecular analysis of the serine protease inhibitor Kazal-type 5 gene identified a homozygous mutation (c.1111C>T, p.Arg371X). This case highlights the importance of early diagnosis to start… (More)
Polyarteritis or panarteritis nodosa (PAN) is a necrotizing, focal segmental vasculitis that affects predominantly medium-sized arteries in many different organ systems. It is extremely rare in childhood. Involvement of the oral mucosa at diagnosis is uncommon in PAN. Here, we report a case of a pediatric patient with tongue necrosis.
We report the case of a vesiculopustular eruption associated with a transient myeloproliferative disorder (TMD) in a neonate with trisomy 21 syndrome. Examination of a skin biopsy showed a dermal mixed inflammatory infiltrate including atypical megakaryoblasts. As the white blood cell count spontaneously normalized, the eruption disappeared. This case… (More)