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Dirk Elston 《Journal of cutaneous pathology》2013,40(8):701-707
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Disseminated epidermolytic acanthoma probably related to trauma 总被引:3,自引:0,他引:3
Epidermolytic acanthoma is a rare benign tumour, which may occur in both isolated and disseminated forms. Only seven cases of disseminated epidermolytic acanthoma (DEA) have been described. This entity should be distinguished from other hereditary or acquired conditions which involve epidermolytic hyperkeratosis and other benign acanthomas. On the basis of the clinical history and the histological findings, we diagnosed a case of DEA which was probably secondary to repeated trauma. 相似文献
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A 52-year-old man presented to our department with a scrotal skin nodule, first noted as a papule two to three years previously. The nodule was red and pedunculated with a granular surface and a diameter of 10 mm. Three red papules were scattered around the nodule. Histopathologic examination of the nodule showed epidermal papillary hyperplasia, collections of foam cells in the papillary dermis, and a dense infiltration of inflammatory cells into all dermal layers. In addition, granular degeneration was seen in the pedunculated lesion of the nodule free from the foam cells. Microscopic examination of the red papules also showed granular degeneration. The patient was diagnosed with verruciform xanthoma associated with isolated epidermolytic acanthoma. This is the first report of these two lesions occurring at the same site on the scrotum. 相似文献
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5岁女性患儿,全身皮肤潮红5年,出现干燥及角化增厚4年。皮损组织病理示:表皮显著角化过度,颗粒层细胞内见不规则的透明角质颗粒呈空泡样变性改变,棘层不规则增厚,真皮浅层血管周围少量炎性细胞浸润。基因突变检测示KRT10位点突变,基因编码区478号碱基由T变为A。诊断:表皮松解性角化过度鱼鳞病。给予局部外用0.1%维A酸乳膏每日2次及皮肤保湿剂治疗,40 d复诊时皮损明显好转,全身皮肤基本正常。 相似文献
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Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis 总被引:1,自引:0,他引:1
Epidermolytic hyperkeratosis (EHK) is a hereditary skin disorder typified by blistering due to cytolysis. One in 100,000 individuals is affected by this autosomal-dominant disease. The onset of the disease phenotype is typically at birth. Histological and ultrastructural examination of the epidermis shows a thickened stratum corneum and tonofilament clumping around the nucleus of suprabasal keratinocytes. Linkage studies localized the disease genes on chromosomes 12q and 17q which contain the type II and type I keratin gene clusters. Recently, several point mutations in the genes encoding the suprabasal keratins, K1 and K10, have been reported in EHK patients. We have investigated a large kindred affected by EHK and identified a new point mutation in the 2B region of keratin 1 (I107T), resulting from a T to C transition in codon 478. 相似文献
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Haruna K Suga Y Mizuno Y Hasegawa T Kourou K Matsuba S Muramatsu S Ikeda S 《The Journal of dermatology》2007,34(8):545-548
A 37-year-old Japanese male presented to us with persistent asteatotic skin with mild erythema on the trunk and extremities. Skin biopsy from the left knee showed marked epidermal acanthosis and hyperkeratosis, and milder granular degeneration. Ultrastructural analysis revealed clumping of the keratin filaments within suprabasal keratinocytes of the epidermis. Following direct sequencing, we found a single nucleotide substitution in one allele at the residue position 466 of the 1A rod domain segment (CGC to TGC, arginine to cysteine; R156C) in keratin 10. Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case. 相似文献
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Arin MJ Longley MA Küster W Huber M Hohl D Rothnagel JA Roop DR 《Experimental dermatology》1999,8(2):124-127
Epidermolytic hyperkeratosis (EHK) is a congenital, autosomal dominant disorder of cornification characterized by hyperkeratosis and blister formation. The clinical manifestations are heterogeneous, with respect to the extent of body surface involvement, palmar and plantar hyperkeratosis and the presence of erythroderma. Point mutations in the genes encoding the suprabasal-specific keratins, keratins 1 and 10 have been identified in EHK patients. The inappropriate amino acid substitutions cause a collapse of the keratin filament network, resulting in cytolysis of the involved keratinocytes. We report a severe case of EHK with a single base pair mutation that causes a threonine for asparagine substitution in residue 8 (N8T) of the 1A region of the keratin 1 protein. This is the region involved in molecular overlaps between neighboring keratin heterodimers. These findings suggest that even conservative amino acid substitutions in overlap regions can cause tonofilament clumping. 相似文献
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Navid Farahbakhsh Colton Nielson Eric Rudnick Salma Pothiawala Vincek Vladimir 《ANNALS OF DERMATOLOGY》2022,34(3):221
Epidermolytic acanthomas (EA) are uncommon benign tumors clinically presenting as single to multiple papules. Histologically, EA display hyperkeratosis, hypergranulosis, acanthosis, and epidermal degeneration—also known as epidermolytic hyperkeratosis (EH). EA may be misdiagnosed as condyloma both clinically and histopathologically when located on the genitalia. Thus, this diagnosis carries a significant psychological burden and must remain in the differential when initially considering genital warts. We utilize the case of a 62-year old female referred to dermatology for a 5-year history of multiple pruritic and hypopigmented vulvar papules—misdiagnosed as genital warts—to highlight the impact of differentiating EA from genital warts. This patient was initially misdiagnosed with common genital warts at her gynecologist’s office and treated unsuccessfully for years. A shave biopsy was performed and histology revealed EH, consistent with EA. 相似文献
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A case of a dilated pore containing a histologic focus of epidermolytic hyperkeratosis was reported. Our case widened the spectrum to include the association of epidermolytic hyperkeratosis with acquired solitary skin lesions. 相似文献
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A 40-year-old man who had received long term immunosuppressive treatment for 14 years following kidney transplantation developed multiple skin lesions on both antecubital fossae, scalp, and both lower extremities. Histopathologic findings from three skin regions revealed characteristic features of epidermolytic hyperkeratosis, verruca vulgaris, and disseminated superficial porokeratosis, respectively. Although immunocompromised individuals may demonstrate verruca vulgaris or porokeratosis, disseminated epidermolytic acanthoma (DEA) has not been reported to be associated with immunosuppressed status. We suggest that immunosuppression may play a role in the pathogenesis of DEA, as shown in our case. 相似文献
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C. Covaciu M. Castori N. De Luca P. Ghirri A. Nannipieri G. Ragone G. Zambruno D. Castiglia 《The British journal of dermatology》2010,162(6):1384-1387
Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. 1 EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively. 1 Usually, mutations are missense substitutions into the highly conserved α‐helical rod domains of the proteins. 2 , 3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described. 4 - 6 相似文献
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K Niizuma 《Dermatologica》1979,159(1):30-36
A solitary scrotal lesion of isolated epidermolytic acanthoma was studied by optical microscopy. The lesion displayed typical granular degeneration. The tumor parenchyma comprised several foci extending deep in the cutis to the continuation of the invaginated epithelium. Serial sections showed the parenchyma was free from acrosyringium and epidermis proper. The findings with hematoxylin-eosin stain and Fontana-Masson stain indicated that the tumor had originated from portion B of the hair follicle. 相似文献
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Hs Inalöz †‡ G Patel † Ag Knight† 《Journal of the European Academy of Dermatology and Venereology》2000,14(6):511-512
Clear cell acanthoma of Degos is a rare benign tumour of epidermal origin with distinct histological features. Clinically, clear cell acanthoma is characterized by a 'stuck on' appearance of a nodule or dome-shaped plaque that usually occurs on the legs of middle-aged or elderly persons. We observed an unusual case of polypoid clear cell acanthoma on the right thigh of a 58-year-old male. 相似文献
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López JC Taldibaeva G Sperhake K Park BH Stege H Böer-Auer A 《Journal of cutaneous pathology》2011,38(5):432-434
Reticulated acanthoma with apocrine differentiation (RAAD) represents a rare variant of adnexal neoplasm first described by Ackerman et al. in 1998. It consists of cords and columns of adnexal keratinocytes that form a reticulated pattern. Variable signs of apocrine, sebaceous and follicular differentiation may be present. Since 1998, no further cases of this condition have been published. We report on a lesion excised from the leg of a 46-year-old man, which displayed histopathological features diagnostic of RAAD. Criteria for diagnosis and differential diagnoses are discussed. 相似文献
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表皮松解性掌跖角化病1例 总被引:1,自引:1,他引:0
报告1例表皮松解性掌跖角化病。患者女,26岁。双侧掌跖角化20余年。皮肤科检查见双侧掌跖对称性角化性斑块。皮损组织病理检查示表皮角化过度,颗粒层增厚,棘层及颗粒层中有较多裂隙,裂隙处细胞界限不清,由淡染物质或透明角质颗粒组成。组织病理改变符合表皮松解性掌跖角化病诊断。采用阿维A治疗后皮损明显改善。 相似文献