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.

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.

BACKGROUND: Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a spectrum of clinical manifestations of blistering disorders caused by different mutations in the same KRT1 gene.
OBJECTIVE: To analyse the phenotypic spectrum of blistering disorders caused by the KRT1 mutations.
METHODS: Four patients with an epidermal barrier defect manifesting as blistering with the KRT1 mutations were included to the study. The clinical course of the disease was analysed, histology, immunofluorescence and electron microscopic examinations were performed.
RESULTS: An adult patient with severe ichthyosis with p.Asn188Lys mutation in exon 1 of KRT1 who occasionally develops blisters in adolescence represents epidermolytic hyperkeratosis, a newborn child who died 4 days after birth due to disruption of the epidermal barrier (extensive blister and erosions) with mutation p.Ser193Pro in the KTR1 gene and two adult sisters harbouring heterozygous mutation c.591+1A>G in the KRT1 gene who present superficial blisters induced by mild trauma from the birth up to adolescent life without ichthyosis suggesting the diagnosis of epidermolysis bullosa simplex. Histopathology in all adult patients showed cytoplasm disruption in keratinocytes of the stratum spinosum with keratohyalin granule-like structures and, on the ultrastructural level, the presence of keratin clumping confirming the pathology of keratin intermediate filaments.
CONCLUSIONS: This study extends the knowledge of the clinical spectrum for the KRT1 gene mutations. This is the first description of familial dominant epidermolysis bullosa simplex linked to the KRT1 mutation.

Epidermolytic acanthoma (EA) is a rare benign tumor, which usually appears as a solitary small papule. However, there are a few case reports of multiple EA, most of which occurs on the genital area. Cases of multiple EA may mimic verruca vulgaris, condyloma accuminatum, seborrheic keratosis, and bowenoid papulosis, and therefore, can be easily misdiagnosed. A 78-year-old male presented with a 2-week history of discrete, small skin-colored papules around the anus. The other case involved a 47-year-old male with a 5-year history of skin-colored papules on the scrotum. Skin biopsy of both cases revealed a well-demarcated papular lesion characterized by compact hyperkeratosis, perinuclear vacuolization, and reticular degeneration in the granular and upper spinous layer with coarse basophilic keratohyalin granules. Epidermal invagination was consistent with a cup-shaped type of EA. Both cases tested negative for human papillomavirus. We report typical cases of multiple EA, which should be considered as the differential diagnosis of small skin-colored papules in the anogenital area, to prevent the misdiagnosis.

Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.

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.

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.

暂无摘要。

Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder which has been observed to affect 1 in over 200,000 infants as a consequence of a significant mutation in the genes responsible for the keratin proteins, mostly keratin 1 and 10. The features present at birth include erythema and blistering. In adults, the hallmarks include hyperkeratosis, erosions, and blisters. The major symptoms including xerosis, pruritus, and painful fissuring lead not only to cosmetic problems but also stress, inferiority complex and other psychological conditions. While clinical inspection followed by confirmatory tests including histopathology and electron microscopic assessment is used for diagnosis, treatment modalities can be further improved for better diagnosis. This article reviews subtypes of ichthyosis, with a focus on EHK, genetics behind the disease, recently reported mutations, the existing diagnostics and treatments for the same and potential of new modalities in diagnosis/treatment.

BACKGROUND: Hypergranulotic dyscornification (HD) is a rarely reported histological reaction pattern that may be observed in solitary benign keratoses.
OBJECTIVE: We retrospectively reviewed all cases described as displaying \"hypergranulotic dyscornification\" at our institution between January 1st 1990 to September 1st 2018. We excluded cases that on retrospective review displayed changes of epidermolytic hyperkeratosis. We conducted electron microscopy (EM) of two lesions.
RESULTS: Thirty cases were identified in our search. Eleven patients were men and 19 were women. Their mean age was 56.9 ± 21.2 years. In contrast to previous reports, we found that HD does not spare the head and neck area. Frequent clinical impressions were inflamed seborrheic keratosis, Bowen disease or inflamed verruca. The most distinctive histopathologic finding was the presence of a prominent granular layer with clumped perinuclear keratohyaline granules. Some cases had mounds of rounded, anucleate glassy eosinophilic corneocytes in the stratum corneum. We observed one case of incidental HD occurring in an epidermoid cyst. EM of HD showed dense perinuclear bands which appeared to match areas of positive staining by keratin immunohistochemistry, without evidence of pale cytoplasmic areas devoid of keratin filaments, characteristic of epidermolytic hyperkeratosis.
CONCLUSIONS: HD is a reproducible finding in some benign keratoses, probably because of abnormal keratinization. Awareness of this unique reaction pattern will help prevent misdiagnosis.