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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)
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)
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)
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.
BACKGROUND The incidence of Kaposi's sarcoma (KS) in patients transplanted at the Organ Transplant Center of Catholic University in Rome appears to have increased in recent years. OBJECTIVE To describe the clinical characteristics of KS in a group of transplant recipients. METHODS Over 8 years, a total of 302 renal-transplant recipients were followed.… (More)
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)
BACKGROUND Families of children affected with atopic dermatitis (AD) often report fear and anxiety regarding treatment with topical corticosteroids (TCS), which may lead to reduced compliance. The objective of our study was to measure, through a standardized questionnaire, fear of TCS in families of pediatric patients with AD and to identify items… (More)