Sun-Kyum Kim

Epidermolysis bullosa acquisita

Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal bullous disease with clinical features similar to the genetic form of dystrophic epidermolysis bullosa. EBA is characterized by the presence of autoantibodies against type VII collagen which is a major component of the anchoring fibrils at the dermal‐epidermal junction. EBA can be divided into two main clinical types; mechanobullous and inflammatory EBA. Mechanobullous EBA, referred to as classic EBA, presents with skin fragility, blisters and dystrophic changes on trauma‐prone areas. Inflammatory EBA resembles other autoimmune subepidermal bullous diseases. Compelling evidence from mouse models supports a pathogenic role of autoantibodies against type VII collagen in EBA. Treatment of EBA is often unsatisfactory. The most widely used systemic treatment is corticosteroids. Colchicine and dapsone have been reported to be good treatment modalities when combined with corticosteroids. Some intractable cases of EBA have successfully been treated with intravenous immunoglobulin or rituximab.

Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions.

Background  Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal bullous disease characterized by circulating autoantibodies against type VII collagen. Detecting these autoantibodies is crucial for the diagnosis of this disease, and is also useful for measuring disease activity. Enzyme‐linked immunosorbent assay (ELISA), a quantitative method to measure anti‐type VII collagen antibody levels, is currently available to diagnose EBA.

Recessive dystrophic epidermolysis bullosa associated with dilated cardiomyopathy.

congenital FM. The patient was treated with mild-potency topical corticosteroids and, after 2 months, we observed a resolution of the lesion. Follicular mucinosis is an epithelial reaction pattern characterized by the accumulation of mucin within hair follicles. After the initial report by Pinkus, several publications proposed the existence of two main types of FM. The first type of FM (type I FM) occurs mostly in children and young adults, in the absence of cutaneous or extracutaneous disorders, and shows localized lesions with a tendency to resolve within 2 months to 2 years. The second type (type II FM) occurs in older patients and is associated with mycosis fungoides or Sézary syndrome. Follicular mucinosis is rare in the paediatric population. Most of the cases have a benign prognosis, and undergo a spontaneous resolution. However, cases have been reported in association with Hodgkin disease, other lymphomas and leukaemias. In our case, the favourable evolution under local corticosteroid therapy and the absence of recurrence after 6 months of follow-up favours type I FM. However, we cannot be sure that this evolution has been induced by corticosteroids; it also could be a spontaneous resolution. Nevertheless, a clinical follow-up is still ongoing as malignancies have also been associated with paediatric cases of FM and there are no clear-cut criteria to initially differentiate type I from type II FM. To the best of our knowledge, this is the first reported case of congenital follicular mucinosis.

No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis

J Am Acad Dermatol 1991; 24:987–1001. 3 Gibson V, Tschen JA, Bean SF. Localized cicatricial pemphigoid (Brunsting–Perry syndrome). Cutis 1986; 38:252–3. 4 Lee JB, Liu Y, Hashimoto T. Cicatricial pemphigoid sera specifically react with the most C-terminal portion of BP180. J Dermatol Sci 2003; 32:59–64. 5 Hashimoto T, Han-Yaku H, Higashiyama M et al. Four Japanese patients with cicatricial pemphigoid showing both IgG and IgA antibodies against the 180kDa bullous pemphigoid antigen. Br J Dermatol 1997; 137:305–6. 6 Nie Z, Hashimoto T. IgA antibodies of cicatricial pemphigoid sera specifically react with C-terminus of BP180. J Invest Dermatol 1999; 112:254–5. 7 Chan LS, Ahmed AR, Anhalt GJ et al. The first international consensus on mucous membrane pemphigoid. Arch Dermatol 2002; 138:370–9. 8 Poskitt L, Wojnarowska F. Treatment of cicatricial pemphigoid with tetracycline and nicotinamide. Clin Exp Dermatol 1995; 20:258–9. 9 Mallon E, Wojnarowska F. Cicatricial pemphigoid presenting with unusual palmar involvement, successfully treated with a combination of nicotinamide and tetracycline. Clin Exp Dermatol 1994; 19:526–30. 10 Reiche L, Wojnarowska F, Mallon E. Combination therapy with nicotinamide and tetracyclines for cicatricial pemphigoid: further support for its efficacy. Clin Exp Dermatol 1998; 23:254–7.

COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) is an inherited blistering skin disorder, characterized by mucocutaneous blistering, scarring and nail dystrophy following minor trauma. DEB is caused by mutations in the COL7A1 gene and occurs either as an autosomal dominant (DDEB, MIM 131750) or as a recessive (RDEB, MIM 226600) trait. The phenotypic variability results from the different types of mutations in COL7A1 and their positions within the gene. In most cases, RDEB has a more severe clinical presentation. The most severe type of DEB, the recessive Hallopeau–Siemens variant (HS-RDEB), is caused by the presence of mutations that lead to premature termination codons (PTCs) in both alleles, whereas the autosomal dominant cases are frequently caused by heterozygous glycine substitutions (GSs) within the collagenous triple helix. To date, more than 500 different mutations of COL7A1 have been reported. In this study, mutational analysis was performed in 18 distinct Korean families with DEB, and a computational study of each mutation was carried out.

A Direction Entropy-Based Forwarding Scheme in an Opportunistic Network

In an opportunistic network, one of the most challenging issues is the equilibrium of the network traffic and transmission delay for forwarding messages. To resolve this problem, we propose a new forwarding scheme, called the direction entropy-based forwarding scheme (DEFS), using the main direction and direction entropy based on the information collected about the directions of the nodes in the network. Since each node sends a message to another node with a different location and less direction entropy, DEFS utilizes those nodes that are more likely to travel to various locations to forward the messages to the destination nodes. Experiments were performed on the network simulator NS-2. The results show that DEFS provides better balance than the typical forwarding schemes, such as Epidemic, PRoPHET, and WAIT. Category: Ubiquitous computing

A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue

Epidermolysis bullosa simplex (EBS) is a group of inherited skin disorders characterized by lysis of basal keratinocytes leading to the development of intraepidermal blisters from mild trauma. 1 EBS is known to be an autosomal dominant disorder; however, a few recessive cases have been reported. In EBS, the risk of cutaneous malignancy is not higher than in the normal population. 2 We present a patient who showed generalized blistering after minor trauma followed by brownish reticulated hyperpigmentation and squamous cell carcinoma of the tongue. We identified a novel homozygous KRT14 mutation (E392X) inherited in an autosomal recessive fashion.

An enhanced super-peer system considering mobility and energy in mobile environments

As mobile technology advances, more services on peer-to peer(P2P) systems in mobile ad-hoc networks are available in various forms. Recently double-layered P2P systems have been proposed to reduce the network traffic. Peers in a double-layered system are classified into super peers in the upper layer and sub-peers in the lower layer. One of the double-layered systems, called the MOB(MOBility) system, considers the mobility of peers and shows higher performance among other systems. But since the battery power of a mobile device is limited, the energy status of each peer should also be considered. In this paper, we propose a super-peer system considering both energy and mobility of peers when selecting super peers. The experiments have been performed on the network simulator NS-2 and the results showed that the proposed system improved the hit ratio about 5.70% over the MOB system, while maintaining more robust networks.

HCS: hierarchical cluster-based forwarding scheme for mobile social networks

Clustering has been shown to be a highly effective way to reduce network traffic in mobile ad hoc networks. Many clustering schemes have been proposed. However, none of these schemes can be directly applied to a mobile social network because they are designed for well-connected networks and require timely information sharing among the nodes. In this paper, we propose the hierarchical clustering-based forwarding scheme (HCS), which implements hierarchical clustering on social information. Each node constructs hierarchical clusters based on common neighbor similarity at the end of the warm-up period. The nodes then forward a message to other nodes based on the clustering information and similarity scores. HCS exploits the shortcuts on the path toward the destination node with the help of social similarity and node movement patterns. Experiments were performed on an NS-2 network simulator. The results show that HCS reduces network traffic compared to non-clustering schemes, such as Epidemic, SimBet, PRoPHET, and common neighbor similarity schemes, while maintaining acceptable transmission delay compared to the Wait scheme.

Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria

© 2008 The Authors JEADV 2009, 23, 441–496 Journal compilation