epidermolytic hyperkeratosis

  • 文章类型: Case Reports
    背景:金黄色葡萄球菌菌血症(SAB)是菌血症和感染性心内膜炎的主要原因之一。SAB患者中感染性心内膜炎(IE)的发生率为5%至10%-12%。在成年人中,表皮松解性角化过度(EHK)的特征包括角化过度,侵蚀,和水泡。患有炎性皮肤病和一些涉及表皮的疾病的患者倾向于表现出受干扰的皮肤屏障并且倾向于具有差的细胞介导的免疫力。
    方法:我们描述了一个43岁男性的SAB和感染性心内膜炎的病例,该病例表现为不明原因的发烧和皮肤病。经过基因测试,该皮肤病被诊断为EHK。
    结论:继发于EHK的皮肤屏障破裂,加上卫生条件不足,可能为细菌接种提供了机会,导致IE和深部脓肿或器官脓肿。EHK可能与皮肤感染和皮肤外感染的多种危险因素有关。EHK患者应及早治疗,以尽量减少其后果。如果EHK患者出现不明原因的长期发烧,IE和器官脓肿应该排除,包括转移性扩散。
    BACKGROUND: Staphylococcus aureus bacteraemia (SAB) is among the leading causes of bacteraemia and infectious endocarditis. The frequency of infectious endocarditis (IE) among SAB patients ranges from 5% to 10%-12%. In adults, the characteristics of epidermolytic hyperkeratosis (EHK) include hyperkeratosis, erosions, and blisters. Patients with inflammatory skin diseases and some diseases involving the epidermis tend to exhibit a disturbed skin barrier and tend to have poor cell-mediated immunity.
    METHODS: We describe a case of SAB and infective endocarditis in a 43-year-old male who presented with fever of unknown origin and skin diseases. After genetic tests, the skin disease was diagnosed as EHK.
    CONCLUSIONS: A breached skin barrier secondary to EHK, coupled with inadequate sanitation, likely provided the opportunity for bacterial seeding, leading to IE and deep-seated abscess or organ abscess. EHK may be associated with skin infection and multiple risk factors for extracutaneous infections. Patients with EHK should be treated early to minimize their consequences. If patients with EHK present with prolonged fever of unknown origin, IE and organ abscesses should be ruled out, including metastatic spreads.
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  • 文章类型: Case Reports
    粉刺痣(NC)是毛囊皮脂腺器官的罕见发育异常,看起来像许多扩张的丘疹,含有坚硬的,深色色素,角质插头。它出现在出生后不久,大多在10岁之前;然而,已经报道了迟发性病例。没有性别或种族偏好。此外,NC可能是粉刺痣综合征的一个组成部分,骨骼神经皮肤疾病,眼,中枢神经系统异常.NC中的EHK属性并不常见,并且很少与彼此相关联。这篇论文报道了一个健康的,一名27岁的年轻女性,她的胸部出现了许多无症状的单侧线性皮肤病变,腰部,右大腿,和pop窝呈单侧线性模式超过十年。皮肤活检显示滤泡口扩张伴角膜角化过度,角化不全的列,触角鞭打,表皮松解性角化过度,墙上有轻度棘皮病.
    Nevus comedonicus (NC) is a rare developmental anomaly of the folliculosebaceous apparatus, which appears as numerous dilated papules containing firm, darkly pigmented, horny plugs. It appears shortly after birth and mostly before the age of 10; however, late-onset cases have been reported. There is no gender or racial predilection. Moreover, NC can be a component of nevus comedonicus syndrome, a neurocutaneous disorder with skeletal, ocular, and central nervous system abnormalities. EHK properties in NC are not a common finding and are rarely seen in association with each other. This paper reports a healthy, 27-year-old young woman who has been developing numbers of asymptomatic unilateral linear skin lesions on her chest, waist, right thigh, and popliteal fossa in a unilateral linear pattern over ten years. Skin biopsy revealed dilated follicular ostia with orthokeratotic hyperkeratosis, columns of parakeratosis, cornoid flagellation, epidermolytic hyperkeratosis, and mild acanthosis on its wall.
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  • 文章类型: Case Reports
    EN是角质形成细胞的错构瘤增殖。EN最常见的皮肤镜特征是在没有色素网络的情况下的大棕色圆圈,这在包括表皮过度角化在内的不同组织病理学变体中是相似的。
    EN is a hamartomatous proliferation of keratinocytes. The most common dermoscopic feature of EN is large brown circles in the absence of pigment network which is similar in different histopathological variants including epidermolytic hyperkeratotic.
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    文章类型: Case Reports
    Epidermolytic acanthoma (EA) is a rare benign tumor that is characterized by epidermolytic hyperkeratosis on histopathology. It usually presents in adulthood as an asymptomatic tumor <1 cm in diameter with a verrucous surface. We report a very uncommon case of epidermolytic acanthoma. A 21-year-old woman came to our hospital with a pale black papule on the left lower eyelid near the Inner canthus for 2 months. Two months ago the patient noted a pale brown spot on the inside of the left lower eyelid, which gradually enlarged, forming a papule with a deepened color. There were no associated symptoms, such as itching or pain. There were no local injuries, scratches, or other incidents before the crash occurred. The patient was always healthy, with no history of chronic disease or other skin diseases, and no similar cases existed in the family. We diagnosed it as EA.
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  • 文章类型: Case Reports
    BACKGROUND: Epidermolytic acanthoma (EA) is a rare benign skin lesion, usually found in the genital area of men and women, with epidermolytic hyperkeratosis as its distinguishing histologic characteristic. It is commonly misdiagnosed as condyloma accuminatum, verruca, and seborrheic keratosis. Since this lesion is benign, treatment is not necessary. However, it is often misdiagnosed, and patients are likely to undergo incorrect counseling and unnecessary treatment, causing undue burden to the patient. This study seeks to increase awareness of this rare condition to prevent future misdiagnoses.
    METHODS: A 55-year-old man living with human immunodeficiency virus presented for anal cancer screening. His physical examination revealed a flesh colored papule at the anal margin. The initial differential diagnosis included molluscum contagiosum, anal condyloma, and basal cell carcinoma. The lesion was excised to obtain a definitive diagnosis and was discovered to be EA.
    CONCLUSIONS: EA is often misdiagnosed due to its similarity to other dermatologic conditions. Careful examination and pathologic evaluation should be obtained to ensure proper diagnosis.
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  • 文章类型: Journal Article
    Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All of them affect the 2B domain of KRT10. In the present study we describe four patients with EI (including one lethal case) born from unaffected parents in a consanguineous family of a native Venezuelan community. The objective of this study was to characterize the clinical, genetic and morphological aspects of the disease in this family, as well as understand its functional implications. Genomic DNA was sequenced for KRT10 and KRT1. Immunofluoresence for keratin expression was performed on cutaneous biopsies. After examination of cutaneous biopsies histology, our results showed hyperkeratosis and acantholysis with an expanded granular layer. Sequencing of KRT10 demonstrated a non-sense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. The loss of K10 was compensated by upregulation of K14 and K17. In conclusion, this novel mutation in KRT10 is the first recessive genetic variation that is not located in the so called \"hot spot\" for recessive EI, suggesting that other areas of the gene are also susceptible for such mutations.
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