Eosinophilic pustular folliculitis of infancy is a sterile, inflammatory dermatosis that mainly affects children younger than 36 months. The underlying physiopathologic mechanism is unclear. Clinical diagnosis is challenging, and a skin biopsy may be necessary.
View Article and Find Full Text PDFFibrosarcomatous transformation of dermatofibrosarcoma protuberans is associated with a significantly worse prognosis in adults, but is a very rare feature in the pediatric population. Here, we report a case that occurred in a child. The diagnosis of fibrosarcomatous transformation of dermatofibrosarcoma protuberans was confirmed by a histopathological assessment and fluorescence in situ hybridization.
View Article and Find Full Text PDFIntroduction: Pityriasis lichenoides (PL) is an infrequent skin disorder. The clinical manifestations are usually specific enough for a reliable diagnosis, although the histopathological assessment of a biopsy is sometimes needed to differentiate between PL and a range of other diseases. The objectives of this study were to review cases of PL managed in our hospital, confirm the classical histopathological features of PL, and identify signs that may be of value in the diagnosis of PL.
View Article and Find Full Text PDFVerrucous hemangioma or verrucous venous malformation is a superficial venous malformation frequently misdiagnosed as a lymphatic malformation because of its classical hyperkeratotic appearance. Clinical characteristics of VVM were studied in patients with a histologically confirmed VVM, and validated in a prospective study of 18 patients. VVM was made of separated vascular elements with irregular shape, in a linear disposition, with variable thickness and keratosis.
View Article and Find Full Text PDFLarge congenital melanocytic naevi (LCMN) represent the main risk factor for development of melanoma in childhood. This retrospective study of 10 cases of melanoma in patients with LCMN used fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) (6 cases) to elucidate the clinical, histological, and cytogenetic characteristics of this rare disorder. Six melanomas were found within the LCMN, the others in lymph nodes, subcutis and brain.
View Article and Find Full Text PDFMargin resection status is a major risk factor for the development of local recurrence in breast conservation therapy for carcinoma. Tumor bed excision sent as separate orientated cavity margins represents a tool to verify the completeness of the carcinoma resection. We aimed to (1) determine the prevalence of positive cavity margin and its influence on subsequent surgical treatment and (2) identify potential predictive factors for positive cavity margins.
View Article and Find Full Text PDFBackground & Aims: Adenosine triphosphate-binding cassette subfamily B, member 4 (ABCB4) mutations have not been investigated in patients with unexplained cholestasis. We aimed to investigate ABCB4 mutations in adult patients with unexplained anicteric cholestasis and to describe liver injury associated with ABCB4 mutations.
Methods: Between February 2004 and March 2007, all adults with unexplained cholestasis despite multiple investigations including liver biopsy and 124 healthy volunteers had ABCB4 sequencing.