Abstract：
:We report a 2-year-old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lymphocytic vasculitis with fibrinoid necrosis and thrombi formation, both superficial and deep dermal lymphocytic infiltrate, lymphocytic eccrine hidradenitis and absence of marked dermal edema. Subsequent investigations suggested a clinical diagnosis of Aicardi-Goutières syndrome (AGS), a rare genetic leukoencephalopathy. Recently, both AGS and familial chilblain lupus, an autosomal dominant form of systemic lupus erythematosus (SLE), have been shown to be allelic thus suggesting a common pathogenic basis. In addition, a phenotypic overlap is apparent between SLE and AGS. To our knowledge, this is the first comprehensive dermatopathological report of the cutaneous lesions seen in AGS, and our paper highlights the importance of considering AGS in the differential diagnosis of perniosis and chilblain lupus.
journal_name
J Cutan Patholjournal_title
Journal of cutaneous pathologyauthors
Kolivras A,Aeby A,Crow YJ,Rice GI,Sass U,André Jdoi
10.1111/j.1600-0560.2007.00900.xsubject
Has Abstractpub_date
2008-08-01 00:00:00pages
774-8issue
8eissn
0303-6987issn
1600-0560pii
CUP900journal_volume
35pub_type
杂志文章abstract：:Cutaneous syncytial myoepithelioma (CSM) is a recently recognized, histopathological variant of myoepithelial (ME) tumors of the skin. It is characterized by a syncytial arrangement of spindled, ovoid, and/or epithelioid cells forming a well-circumscribed, unencapsulated dermal nodule. There is a paucity of intervenin...
journal_title：Journal of cutaneous pathology
pub_type：
doi：10.1111/cup.13450
更新日期：2019-06-01 00:00:00
abstract：:Spontaneous regression (SR) of cancer is a rare but well-documented biological phenomenon, which is even rarer in the context of metastatic breast carcinoma. Different mechanisms of SR are still under debate, including immune-mediated response. We herein report a case of the SR of intralymphatic cutaneous metastases o...
journal_title：Journal of cutaneous pathology
pub_type：
doi：10.1111/cup.13694
更新日期：2020-08-01 00:00:00
abstract：:A prospective, controlled epidemiologic survey performed in El Bagre, Colombia revealed a new variant of endemic pemphigus disease, occurring in a gold mining region. The disease resembled Senear-Usher syndrome, and occurred in an endemic fashion. The aim of this study is to describe the most frequent histopathologic ...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2009.01315.x
更新日期：2010-02-01 00:00:00
abstract：INTRODUCTION:The atypical fibroxanthoma (AFX) is considered by most authorities to represent a superficial or minimally invasive variant of malignant fibrous histiocytoma that most often presents as a solitary nodule on the sun-exposed skin of the elderly. Among the rarest variants is the clear cell AFX, a lesion which...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1034/j.1600-0560.2002.290609.x
更新日期：2002-07-01 00:00:00
abstract：:Two young patients with conjunctival compound nevi are presented to illustrate two types of abnormalities that lead to difficulty in distinction of these nevi from invasive melanomas. In Case 1, inflammation is associated with disruption of the nevus cell architecture and cytologic atypia. In Case 2, the occurrence of...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1999.tb01838.x
更新日期：1999-05-01 00:00:00
abstract：:Cutaneous leiomyomata, which are benign smooth muscle neoplasms, commonly present as dermal-based nodules or papules with smooth borders and firm consistency. Digital, particularly subungual leiomyomata are quite rare. A 16-year-old female presented to nail clinic complaining of discoloration of the lunula of the left...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/cup.12645
更新日期：2016-04-01 00:00:00
abstract：:Eccrine nevi are rare hamartomas characterized by an increase in the number or size of eccrine glands. A polypoid form located in the coccygeal area has been described in a few cases and termed coccygeal polypoid eccrine nevus (CPEN). No association with internal malformations was reported in any of these cases. We de...
journal_title：Journal of cutaneous pathology
pub_type：
doi：10.1111/cup.12718
更新日期：2016-08-01 00:00:00
abstract：:We report a case of a 68-year-old man with cutaneous leiomyosarcoma of the penis. Leiomyosarcoma of the penis is an extremely rare neoplasm that usually presents in middle to old age, and to our knowledge only approximately 30 cases have been reported in the literature to date. This is an important diagnosis in the di...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2007.00846.x
更新日期：2008-06-01 00:00:00
abstract：:Linear dermatoses are fascinating entities that likely reflect embryologically derived cutaneous mosaicism, even when they occur after childhood. Adult blaschkitis is a rare, relapsing inflammatory dermatitis that most often presents in middle age. It presents clinically as a pruritic eruption of linear papules, vesic...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/cup.12412
更新日期：2014-12-01 00:00:00
abstract：:Two cases of tubular apocrine adenoma were studied by light, histochemical, and electron microscopic methods. This benign apocrine hamartoma must be considered in the classification of appendage tumors, particularly those associated with organoid epithelial nevus, and may be confused with metastatic adenocarcinoma. Th...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1976.tb00850.x
更新日期：1976-01-01 00:00:00
abstract：BACKGROUND:Pemphigoides gestationis (PG) is a blistering disorder of pregnancy caused by antibodies against basement membrane proteins. They are directed against the 180 kD bullous pemphigoid antigen (BPAg2), towards the epitopes within the NC 16A domain. There are many similarities between pemphigoid gestationis and b...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.0303-6987.2006.00458.x
更新日期：2006-04-01 00:00:00
abstract：BACKGROUND:Chromoblastomycosis is a chronic, suppurative, granulomatous mycosis usually confined to skin and subcutaneous tissues. The host defense mechanisms in chromoblastomycosis have not been extensively investigated. The purpose of the present study was to determine the distribution and pathways of the fungal anti...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1046/j.0303-6987.2004.0131.x
更新日期：2004-01-01 00:00:00
abstract：:Biopsies from a 5-year-old girl with dermatomyositis and universal calcinosis were studied histopathologically and by means of electron optical techniques. The dermis was infiltrated by fibroblasts, lymphocytes and plasma cells. In the lower part of the dermis, dense basophilic areas were present. In the vicinity of t...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1979.tb01175.x
更新日期：1979-12-01 00:00:00
abstract：:Traditionally, the pigmented purpuric eruptions (PPE) have been subdivided into four histologic categories, based upon variations in histologic pattern and clinical morphologies. In recent years, it has become apparent that the lesions behave similarly, and this family of eruptions has become grouped under the term PP...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1991.tb01378.x
更新日期：1991-12-01 00:00:00
abstract：BACKGROUND:The migration of circulating monocytes into the dermis is considered to be essential for both the initiation and the progression of xanthoma. The contribution of vascular endothelial cells to the migration process is unclear. METHODS:Twenty cases of xanthelasma and six cases of tuberous xanthoma lesions wer...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2006.00701.x
更新日期：2007-10-01 00:00:00
abstract：:Brooke-Spiegler syndrome represents an autosomal dominant disease characterized by the occurrence of multiple cylindromas, trichoepitheliomas and (sporadically) spiroadenomas. Patients with Brooke-Spiegler syndrome are also at risk of developing tumors of the major and minor salivary glands. Patients with Brooke-Spieg...
journal_title：Journal of cutaneous pathology
pub_type： 临床试验,杂志文章
doi：10.1111/j.1600-0560.2011.01813.x
更新日期：2012-03-01 00:00:00
abstract：:Mucinous cutaneous adnexal tumors are an uncommon occurrence. We describe three cases of mucinous hidradenoma characterized by diffuse and prominent mucinous cell proliferation and discuss the relevant literature. The patients (two men and one woman) ranged in age from 32 to 72 years. The lesions were completely excis...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2006.00645.x
更新日期：2007-06-01 00:00:00
abstract：:Lobular capillary hemangioma, which is also named as pyogenic granuloma, is a common vascular proliferation of skin and mucous membranes. Hormonal influence in the development of lobular capillary hemangioma on the mucosal surfaces has been demonstrated but for cutaneous lesions located on the skin, this association h...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章,评审
doi：10.1046/j.0303-6987.2004.0137.x
更新日期：2004-01-01 00:00:00
abstract：:Light and electron-microscopic studies were performed on the amelanotic and adjacent normal-appearing skin in patients with vitiligo. The amelanotic skin revealed complete loss of pigment and absence of melanocytes. In addition to severe degenerative changes of melanocytes, varying degree of damage was also seen in th...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1983.tb00328.x
更新日期：1983-06-01 00:00:00
abstract：:The distinction of metastatic carcinomas to the skin from poorly differentiated primary cutaneous carcinomas and sometimes primary benign adnexal tumors can pose a significant diagnostic challenge. The purpose of this study was to evaluate the role of p63 and podoplanin (D2-40) immunoreactivity for separating primary ...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2010.01517.x
更新日期：2010-04-01 00:00:00
abstract：:The lesions of nine patients with early striae distensae (SD) during puberty were examined by light and electron microscopy. Specific changes were seen in very early stage SD, and in clinically uninvolved skin 0.5 to 3 cm remote from the edge of the long axis of the SD lesions. Sequential changes of elastolysis accomp...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1991.tb01376.x
更新日期：1991-12-01 00:00:00
abstract：:A 48 year-old white male with basal cell nevus syndrome presented with a metastatic basal cell carcinoma with neuroendocrine features. The tumor manifested aggressive behavior, having deep local invasion and metastases to para-aortic lymph nodes and bone. Neuroendocrine differentiation has rarely been associated with ...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1999.tb01849.x
更新日期：1999-07-01 00:00:00
abstract：AIM:Adnexal tumors with divergent lines of differentiation are uncommon. Herein, I report a hamartoma of the eyelid with follicular, sebaceous and apocrine differentiation that exhibited prominent melanin pigmentation. METHODS:A 63-year-old white woman had a nodule present on her left upper eyelid for 15 years. The no...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2007.00745.x
更新日期：2007-11-01 00:00:00
abstract：BACKGROUND:Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is associated with an increased risk of a second malignancy. METHODS:We conducted a retrospective clinicopathologic review of 12 patients with CLL/SLL who developed a second lymphoma in the skin. Demographic data, clinical information, and hi...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/cup.13956
更新日期：2021-01-07 00:00:00
abstract：:Galli-Galli disease (GGD) and Dowling-Degos disease (DDD) are inherited skin diseases with variable progressive course. They are of benign and harmless behaviour but aesthetically annoying. They are subsumed within the group of reticulate pigmented disorders of the skin to which, additionally, Kitamura's and Haber's d...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2008.00995.x
更新日期：2009-01-01 00:00:00
abstract：:Epidermal growth factor (EGF) and transforming growth factor alpha (TGF alpha) are important keratinocyte mitogens. Their effects are mediated by a cell membrane receptor (EGFR), quantitative and qualitative abnormalities of which may be responsible for deranged keratinocyte proliferation and differentiation. We have ...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1992.tb01561.x
更新日期：1992-02-01 00:00:00
abstract：:Superficial acral fibromyxoma (SAFM) is an uncommon mesenchymal soft tissue tumor with a predilection for the acral extremites and nail bed involvement. SAFM is diagnosed with clinicopathological and immunohistochemical examination. Awareness of this rare tumor is important because of amounts of benign and malignant n...
journal_title：Journal of cutaneous pathology
pub_type：
doi：10.1111/cup.13128
更新日期：2018-06-01 00:00:00
abstract：BACKGROUND:BMI-1 is involved in the maintenance of stem cells and functions as an oncogene in both lymphomas and solid carcinomas, acting by downregulation of p16ink4a. We have investigated the expression profile of BMI-1 in normal and inflamed skin as well as in basal cell carcinomas (BCCs) and squamous cell carcinoma...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.2006.00587.x
更新日期：2007-02-01 00:00:00
abstract：BACKGROUND:Tumors with similar or identical histopathologic features have been termed basaloid follicular hamartoma (BFH) or infundibulocystic basal cell carcinoma (BCC). BCC typically lacks immunoreactivity with cytokeratin 20 (CK20) and pleckstrin homology-like domain, family A, member 1 protein (PHLDA1). AIM:A seri...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/cup.12410
更新日期：2014-12-01 00:00:00
abstract：:Two elderly patients with unusual hair-follicle tumors of the face are reported. The lesions showed some histologic resemblance to pilomatrixomas but differed by the presence at the advancing edge of cytologically-atypical cells without the usual shadow cell transformation and maturation of pilomatrixomas. The term ma...
journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
doi：10.1111/j.1600-0560.1980.tb00975.x
更新日期：1980-02-01 00:00:00
