Amyloidosis cutis dyschromica in two siblings and review of the epidemiology,clinical features and management in 48 cases

Amyloidosis cutis dyschromica (ACD) is a rare form of primary cutaneous amyloidosis (PCA). There is a paucity of information in the dermatology literature to guide its diagnosis, investigation and treatment. We present two siblings with ACD and summarise the epidemiology, clinical features, natural history and treatments in 48 cases of ACD from the literature. Familial cases were more common (37) than sporadic cases. ACD is predominantly reported in those of East and South‐East Asian ethnicity (63%). The mean age of onset was 6 years in familial cases, and 23 years in sporadic cases. The clinical features of familial and sporadic ACD do not differ substantially. Pruritus was the only symptom, and was reported in 19% of all cases. There were no reported ACD cases with systemic amyloidosis. Acitretin was reported to result in improvement in seven of 10 patients treated. Routine investigation for systemic involvement is not necessary. Acitretin may be helpful.     

青春期后发病的色素异常性皮肤淀粉样变家系相关基因突变研究

目的:青春期后发病的色素异常性皮肤淀粉样变少见,本文报道一家系,并检测该家系中OSMR及IL31RA基因的突变情况。方法:经知情同意后采集该先证者及家系4例患者外周血后用PCR扩增OSMR基因第12～15号外显子和IL31RA基因12号外显子并进行测序。结果:该家系所有成员OSMR基因第12～15号外显子和IL31RA基因第12号外显子均未发现明显突变。结论:该家系未在OSMR基因第12～15号外显子和IL31RA基因第12号外显子发现突变,可能存在其他基因突变位点有关,需要进一步验证。     

Case of localized bullous pemphigoid with unique clinical manifestations in the lower legs

We report the case of a 71-year-old Japanese woman who presented with persistent band-like erosions in the lower legs. Histological examination suggested subepidermal blister formation. Direct and indirect immunofluorescence studies revealed tissue-deposited and circulating immunoglobulin G autoantibodies against the basement membrane. Western blotting revealed autoantibodies to BP230, but not to BP180. Based on these findings, the patient was diagnosed as having a localized type of bullous pemphigoid. We suggest that the unique clinical manifestations in this patient could be attributable to bacterial or fungal infection, and/or mechanical trauma, such as the pressure of her socks.     

Nodular localized primary cutaneous amyloidosis: a long-term follow-up study

We present long-term follow-up data on patients with nodular localized primary cutaneous amyloidosis (NLPCA) seen at the St John's Institute of Dermatology between 1968 and 1999. This is the largest clinical follow-up study of this type of amyloid to date. Based on these cases we estimate the rate of progression of NLPCA to systemic amyloidosis to be only 7%, much lower than the 50% rate currently quoted in the literature.     

Extragenital bullous lichen sclerosus: A case report and literature review

Lichen sclerosus (LS) is a chronic dermatosis characterized by atrophic white papules or plaques, most commonly occurring on the anogenital skin. Blisters have been rarely described developing in the background of extragenital LS. A 74-year-old woman with a 4-year history of sclerotic patches on the trunk showed a flaccid bulla on the lower back for 3 months. The histopathological finding of the skin biopsy was consistent with the diagnosis of bullous LS. In this paper, we present this uncommon case, review the literature on extragenital bullous LS, discuss the pathogenesis, and provide some treatment options for the case.     

Clinical effect of tocoretinate on lichen and macular amyloidosis

Lichen amyloidosis and macular amyloidosis are commonly therapy-resistant. Tocoretinate is a hybrid compound of retinoic acid and tocopherol that is commonly used for the treatment of skin ulcers. Although beneficial effect of oral retinoic acid on lichen amyloidosis is reported, tocoretinate has not been reported to be useful for the treatment of lichen amyloidosis or macular amyloidosis. We evaluated the effects of topical tocoretinate on lichen amyloidosis and macular amyloidosis lesions. Tocoretinate was topically applied daily to the lesions and clinical improvement and histological changes were evaluated. The outcome was very good for four, good for two, moderate for two and poor for two of 10 treated patients. Epidermal hypertrophy was reduced and expression of involucrin, keratin 1 and keratin 10 was decreased by tocoretinate treatment, suggesting the normalization of epidermal differentiation. Amyloid deposits remained histologically detectable, even in clinically responsive patients. Together, topical application of tocoretinate reduced the clinical symptoms of lichen amyloidosis and macular amyloidosis, and normalized disturbed epidermal differentiation.     

伴抗基底膜自身抗体的皮肤异色症样淀粉样变病1例

报道1例伴抗基底膜自身抗体阳性的皮肤异色症样淀粉样变病,并对相关文献进行复习.患者女,22岁.面颈部、躯干、四肢出现瘙痒性红斑、水疱及弥漫性网状色素沉着性斑片8年余.皮损组织病理示：表皮角化过度,基底细胞液化变性,真皮乳头均一化物质沉积,结晶紫染色阳性;直接免疫荧光（DIF）示：基底膜带及乳头IgG、IgM、IgA和C3沉积.     

伴抗基膜自身抗体的皮肤异色病样淀粉样变病

报告1例伴抗基膜自身抗体的皮肤异色病样淀粉样变病.患者男,37岁.双上肢、上腰腹部及面颈部起丘疹、红斑、张力性水疱,色素沉着和色素减退相间,无自觉症状7年.皮损组织病理学检查示表皮基膜下有红色团块样物质,淋巴细胞呈带状浸润,可见噬黑素细胞,刚果红染色阳性.直接及间接免疫荧光示基膜带有IgG、C3沉积.     

Mucocutaneous bullous amyloidosis with an unusual mixed protein composition of amyloid deposits

We describe a case of fatal systemic amyloidosis presenting with mucocutaneous bullous lesions in a patient with IgA kappa monoclonal gammopathy. The amyloid plaques were composed of an unusual mixture of immunoglobulin kappa light chain and amyloid A proteins. Whereas oesophageal and oropharyngeal blisters are known to occur in several types of bullous dermatoses, to our knowledge this is the first report of oesophagopharyngeal blisters complicating bullous amyloidosis.     

特殊部位的原发性皮肤淀粉样变性3例

报告3例部位特殊的原发性皮肤淀粉样变性。3例患者皮损分别发生于外耳、乳房及额部,由小而密集的褐色斑疹或丘疹组成,或呈苔藓样改变,不伴或伴有瘙痒。皮损组织病理检查示:真皮乳头层淀粉样蛋白沉积,刚果红和结晶紫染色阳性。诊断:原发性皮肤淀粉样变性。     

A monoclonal anti-keratin antibody reactive with amyloid deposit of primary cutaneous amyloidosis

Specimens from cutaneous amyloidoses (lichen amyloidosis and macular amyloidosis) were stained immunohistochemically with monoclonal anti-keratin antibodies. One monoclonal antibody raised against hair keratin (HKN-6) reacted with the amyloids of both primary amyloidoses. Another monoclonal antibody, HKN-2, did not decorate the amyloid deposit. HKN-6 did not stain the interfollicular epidermis, but HKN-2 did. The possible explanations of these findings are 1) amyloid deposits contain keratin protein modulated to react with HKN-6; 2) amyloid deposits contain a protein unrelated to keratin protein, but reactive to HKN-6.     

原发性皮肤淀粉样变对患者生活质量和睡眠质量的影响

目的：评价原发性皮肤淀粉样变对患者生活质量和睡眠质量的影响。方法：对皮肤科门诊原发性皮肤淀粉样变患者和健康对照者进行问卷调查。文中采用皮肤病生活质量指数表（DLQI）和匹兹堡睡眠质量指数表（PSQI）分别评价原发性皮肤淀粉样变对患者生活质量和睡眠质量的影响,分值越大,表明生活质量和睡眠质量越低。结果：52例患者DLQI评分为0～26分,平均(6.14±3.88)分。PSQI评分为1～13分,平均(5.69±3.10)分,高于104例对照的(4.39±2.88)分,差异具有统计学意义（P=0.016）。结论：原发性皮肤淀粉样变影响患者的生活质量和睡眠质量。     

原发性皮肤淀粉样变一家系OSMR基因突变检测

目的: 明确原发性皮肤淀粉样变（PCA）的致病基因抑瘤素M受体（OSMR）突变情况。方法：提取一PCA家系3例患者及22名正常成员的外周血DNA,应用PCR扩增OSMR基因外显子,并对产物进行测序。 结果：该家系3例患者OSMR基因的第15外显子中均检测出c.2081C>T（p.Pro694Leu）错义突变,而家系内正常人未见该突变。结论：该家系患者发病可能与OSMR基因第15外显子突变有关。     

Transcutaneous electrical nerve stimulation for reduction of pruritus in macular amyloidosis and lichen simplex

Lichen simplex (LS) is characterized by circumscribed, lichenified, pruritic patches that may develop on any part of the body. Macular amyloidosis (MA) is the form of primary localized cutaneous amyloidosis. Transcutaneous electrical nerve stimulation (TENS) uses a pulsed electric current generated transcutaneously by a device to cause impulses to be carried along large-diameter afferent nerves. In this article, we report the effects of TENS on the Dermatology Life Quality Index (DLQI) measures and visual analogue scale (VAS) scores in patients with pruritus, in whom LS and MA were diagnosed. All patients with MA and six (75%) patients with LS had relief of their pruritus with TENS therapy. At week 2, there was a significant difference in median VAS scores between baseline in the group of LS (P = 0.007). At 4 weeks of therapy, statistically significant differences were observed compared with the baseline and week 2 in the median VAS scores in the group of MA (P < 0.001). There was also a statistically significant improvement in median DLQI total scores with respect to baseline, which was achieved as early as week 2 in patients with LS and MA who were on the TENS treatment (P = 0.006, P = 0.001, respectively).     

Nodular primary localized cutaneous amyloidosis: immunohistochemical evaluation and treatment with the carbon dioxide laser

Nodular primary localized cutaneous amyloidosis is an uncommon disorder for which there is no consistently satisfactory treatment. The amyloid fibrils are thought to have an immunoglobulin light chain derivation and systemic involvement must be excluded in all cases. We report a patient with a large scalp lesion of nodular primary localized cutaneous amyloidosis whose immunohistochemical evaluation revealed lambda light chain deposits and who thus far has no apparent systemic involvement. The lesion was treated by the carbon dioxide (CO2) laser with excellent cosmetic results and minimal morbidity.     

Unusual manifestations of primary cutaneous amyloidosis in association with Raynaud''s phenomenon and livedo reticularis

A patient with unusual manifestations of primary cutaneous amyloidosis, including macules, papules, oedematous plaques and urticarial lesions is described. Raynaud's phenomenon and livedo reticularis were an associated finding. During the acute phase, single doses of systemic corticosteroids resulted in an impressive, long-lasting improvement in cutaneous manifestations.