Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and have been shown to be major predisposing factors for atopic dermatitis (AD). Approximately 40 loss-of-function FLG mutations have been identified in patients with ichthyosis vulgaris (IV) and/or atopic dermatitis (AD) in Europe and Asia. Major differences exist in the spectra of FLG mutations observed between different ancestral groups. Notably, prevalent FLG mutations are distinct between European and Asian populations. Many cohort studies on FLG mutations in AD have revealed that approximately 25-50% of AD patients harbour filaggrin mutations as a predisposing factor. In addition, FLG mutations are significantly associated with AD-associated asthma. The risk for developing allergic rhinitis is also significantly higher with a FLG mutation, both with and without accompanying AD. Recent studies have hypothesized that skin barrier defects caused by FLG mutations allows allergens to penetrate the epidermis and to interact with antigen-presenting cells, leading to the development of atopic disorders including asthma. The restoration of skin barrier function seems a feasible and promising strategy for prophylactic treatment of AD patients with FLG mutations.
Abbreviations: AE, atopic eczema; CI, confidence interval; Con, healthy control; OR, odds ratio. For combined genotype: asthma+AE, exact P-value of Pearson w 2 -test=0.0122, OR and 95% CI for dominant models (AA vs aX)=7.3692 (1.7715-30.6748); asthmaÀAE, exact P-value of Pearson w 2 -test=0.5563, OR and 95% CI for dominant models (AA vs aX)=1.6124 (0.4979-5.2219); all asthma, exact P-value of Pearson w 2 -test=0.1968, OR and 95% CI for dominant models (AA vs aX)=2.2523 (0.7609-6.6667).www.jidonline.org 2835 R Osawa et al.
Several reports have suggested the efficacy of radiotherapy for treating extramammary Paget's disease (EMPD); however, these reports comprised only clinical observations, without in-depth histopathological observations. We report our experience of genital EMPD treated by radiotherapy in two elderly women, and the marked efficacy of radiotherapy, confirmed both by clinical observation and by detailed histopathological investigations. Our cases agree with the notion that radiotherapy is useful as an alternative therapy for EMPD, and should be considered particularly in elderly patients who may not tolerate surgery well.
It has been suggested that both bullous pemphigoid (BP) and dermatomyositis are associated with internal malignancies. However, there are no reports of the coexistence of these three conditions in one patient. We report the first case, to our knowledge. of coexistent BP, dermatomyositis and colon carcinoma. An 81-year-old Japanese woman was diagnosed with dermatomyositis based on muscular weakness and tenderness of the extremities, increased levels of circulating muscle enzymes and histological inflammatory changes in skeletal muscle and skin. Carcinoma of the sigmoid colon was detected during screening for internal malignancy; she was therefore surgically treated. Ten days after the operation, several large bullous eruptions appeared on her extremities. From the histopathological, immunofluorescence microscopy and BP180 ELISA study findings, we diagnosed the bullous eruptions as BP. Coexistence of BP with dermatomyositis or colon carcinoma is rare. Although the reason why our case exhibited these three disorders is not understood, it is suggested that these conditions may be associated with epitope spreading.
401. 7 Miller JJ. Relaxer-induced alopecia. Am J Contact Dermat 2001; 12:238-9. 8 Sperling LC, Sau P. The follicular degeneration syndrome in black patients. 'Hot comb alopecia' revisited and revised. Arch Dermatol 1992; 128:68-74. 9 Sperling LC. Scarring alopecia and the dermatopathologist. J Cutan Pathol 2001; 28:333-42. 10 Keita S, Faye O, Kane BD et al. Hair care and hair styles in women in Bamako, Mali. Int J Dermatol 2005; 44 (Suppl. 1):26-9.Conflicts of interest: none declared.
Primary cutaneous CD30+ anaplastic large-cell lymphoma (PCALCL) in adults is rare, and the prognosis is generally excellent. Multifocal PCALCL tends to relapse after multiagent chemotherapy and is generally considered more prone to progress to extracutaneous involvement than is the localized disease. We report a 43-year-old woman with PCALCL who had generalized skin involvement accompanied by involvement of one peripheral draining lymph-node region. Although the disease relapsed after multiagent chemotherapy regimens, the disease was successfully treated with low-dose etoposide. We reviewed the previously reported cases of PCALCL treated with low-dose etoposide. We suggest that oral etoposide might be a useful effective treatment for treatment of relapsed multifocal PCALCL.
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