A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.

A novel missense mutation (p.Thr198Ser) in the 1A helix of keratin 5 (K5) has been identified in a four-generation family with a history of the localized variant of epidermolysis bullosa simplex (EBS-loc), a genetic skin fragility disorder caused by K5 or K14 mutations. Genomic DNA was isolated from blood samples of patients and their healthy relatives, and all exons of the genes encoding K5 and K14 (KRT5 and KRT14) were amplified by PCR and directly sequenced. The identified mutation was confirmed by mismatch allele-specific (MM-AS)-PCR and restriction enzyme digestion with RsaI. K5 p.Thr198Ser lies at the C-terminal end of the 1A helical domain and is considered to be outside of the main mutation hotspot region. This is the first reported mutation to affect position 30 of the 1A helix (1A:T30S) in any of the 54 known keratins.

Generalised cutaneous necrosis: a complication of low-molecular-weight heparin.

Subcutaneous low-molecular-weight heparin (LMWH) injections have a predictable dose-dependent anticoagulant effect and have therefore become popular for the prevention and management of thromboembolic diseases. It was initially hoped that use of the smaller molecule and better dose titration would reduce the incidence of side-effects associated with conventional heparin therapy. However, case reports such as this have demonstrated that LMWHs still have the capacity to cause heparin-induced thrombocytopaenia and heparin-induced thrombocytopaenia with thrombosis, as well as heparin necrosis. To our knowledge, this is the first-ever-reported case of heparin necrosis associated with tinazaparin. Heparin necrosis is characterised by widespread life-threatening cutaneous necrosis and systemic thrombosis, in which fatal progression of disease can only be halted by stopping heparin therapy. As heparin necrosis is an uncommon disorder, in this report we focus on the clinical clues that may help woundcare professionals consider and confirm the diagnosis.

An aggressive treatment for aggressive digital papillary adenocarcinoma.

Aggressive digital papillary adenoma (ADPA) and adenocarcinoma (ADPAca) are adnexal tumors that are not often recognized because of their rarity. We present a rare case of ADPAca involving the left middle finger of a 43-year-old man. Histopathological features of ADPAca are distinct from those of other eccrine sweat gland tumors; however, ADPAca may be misdiagnosed particularly for a metastasis of papillary adenocarcinoma originating in the colon, thyroid, or breast. Clinicopathological correlation is essential to ule out a possible risk of metastatic carcinoma of the skin. Recognition of these tumors is important because of a potential risk of local recurrence nd distant metastases. Aggressive surgical treatment consisting of digit amputation is advocated in the treatment of ADPAca.