LDS may manifest as EN-like lesions. Therefore LDS should be included in the differential diagnosis of EN. Clinicopathologic correlation is essential for diagnosis. Differentiating the acute LDS from the early EN is more difficult. A constellation of the findings of septal/lobular panniculitis, hemorrhage in the subcutaneous tissue, and lipophages and/or ischemic fat necrosis in the fat lobules favors the diagnosis of acute LDS.
Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by numerous skin-coloured papules on the central face. Mutations in the CYLD gene, which is also the gene responsible for familial cylindromatosis, have been reported recently. Recent studies indicate that CYLD is a tumour-suppressor gene. The CYLD protein is a negative regulator of the activation of transcription factor nuclear factor-kappaB, and loss of CYLD contributes to oncogenesis. We report a novel splicing mutation (IVS12 + 1 G-->A) in the CYLD gene in a Taiwanese pedigree with MFT, and discuss new developments in treatment options.
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