IPMN: intraductal papillary mucinous neoplasm POIKTMP: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis RTS: Rothmund-Thomson syndrome H ereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP [MIM#615704]) is an extremely rare syndromic form of autosomal dominant poikiloderma. This genetic disorder was fir...

AN important location of reticulo-endothelial tissue is the dermis of the skin (Robb-Smith, 1944). As in other sites, this tissue can undergo proliferation, ultimately to give a lymphoma, the clinical presentation being termed mycosis fungoides by dermatologists. Evolution is slow, 20 years or more usually elapsing before frank malignancy occurs. At this stage the fungating skin tumours which A...

Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features. Approximately 50% of DC patients remain genetically uncharacterized. All the DC genes identified to date are important in telomere maintenance. To determine the genetic basis ...

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosens...

AN important location of reticulo-endothelial tissue is the dermis of the skin (Robb-Smith, 1944). As in other sites, this tissue can undergo proliferation, ultimately to give a lymphoma, the clinical presentation being termed mycosis fungoides by dermatologists. Evolution is slow, 20 years or more usually elapsing before frank malignancy occurs. At this stage the fungating skin tumours which A...

clericuzio-type poikiloderma with neutropenia (pn) is characterized by poikiloderma, non-cyclic  neutropenia,  recurrent  sinopulmonary  infections,  pachyonychia,  and  palmo- plantar hyperkeratosis. mutations in the c16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of pn. pn was first described by clericuzio in navajo indians. herein, we reported the clini...