Abstract:
:Langerhans cell histocytosis (LCH) and Erdheim-Chester disease are two rare histiocytic disorders. Their occurrence in the same patient is more infrequent, but has been described. We report a case of a 38-year-old woman who presented with a diagnosis of single system cutaneous LCH. Subsequently, she developed multiple papules on her extremities consistent with a non-LCH xanthogranuloma type lesion. BRAF(V600E) mutation immunostain, VE1 was positive in the skin lesion, which was confirmed by molecular polymerase chain reaction (PCR) studies, initiating a complete systemic workup for Erdheim-Chester disease. Systemic involvement was confirmed with bilateral sclerotic bone lesions and retroperitoneal and pelvic fibrosing disease. She was also found to have a BRAF(V600E) mutation positive papillary thyroid carcinoma. New suspicious cutaneous lesions presenting in patients with a history of LCH need to be biopsied. A BRAF(V600E) mutation in a non-LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim-Chester disease workup. This is a unique case of a woman with BRAF(V600E) mutation positive Erdheim-Chester disease and cutaneous LCH, while also being, to our knowledge, the first reported case in the English literature of it occurring in a patient with a BRAF(V600E) mutation positive papillary thyroid carcinoma.
journal_name
J Cutan Patholjournal_title
Journal of cutaneous pathologyauthors
Johnson WT,Patel P,Hernandez A,Grandinetti LM,Huen AC,Marks S,Ho J,Monaco SE,Jaffe R,Picarsic Jdoi
10.1111/cup.12636subject
Has Abstractpub_date
2016-03-01 00:00:00pages
270-5issue
3eissn
0303-6987issn
1600-0560journal_volume
43pub_type
杂志文章abstract:BACKGROUND:The histopathologic findings of localized reactions to tick bites may present as diagnostic dilemmas, especially if there is no history of a tick bite, or if the tick's mouthparts are not present in the biopsied skin. OBJECTIVE:Skin biopsies of patients with a clinical history of a tick bite were selected a...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2001.290207.x
更新日期:2002-02-01 00:00:00
abstract::Agminated, or grouped Spitz nevi are a curious expression of nevomelanocytic growth; and represent an uncommon manifestation of these nevi. We encountered an example of agminated Spitz nevi present at birth, which showed progression and rapid growth over months. All showed histologic Spitz nevus features. Avidin-bioti...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1988.tb00537.x
更新日期:1988-06-01 00:00:00
abstract::Verruciform xanthoma (VX) is an uncommon lesion occurring primarily in the oral cavity. Cutaneous lesions are much less common and they preferentially arise on anogenital skin. They are not necessarily associated with a pre-existing inflammatory process. We report a VX in association with a long-standing lesion of dis...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1992.tb01359.x
更新日期:1992-04-01 00:00:00
abstract::The rare presentation of choriocarcinoma as a cutaneous metastasis in a 23-year-old male is reported. Histological and immunohistochemical analysis of the biopsy material demonstrated two distinct cell populations, syncytiotrophoblasts and cytotrophoblasts, with syncytiotrophoblasts strongly positive for human chorion...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1995.tb01423.x
更新日期:1995-08-01 00:00:00
abstract:BACKGROUND:p53 mutations are etiologically associated with the development of squamous cell carcinomas (SCCs) or with exposure to specific carcinogens. The study was conducted to examine the relationship of immunohistochemistry (IHC) scores between altered p53 protein expression in relation to patient's habits and hist...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2008.01040.x
更新日期:2009-03-01 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:Cutaneous tumor metastasis may be the first manifestation of cancer, but more often is a harbinger of advanced disease that portends an ominous prognosis. All skin accessions over the past 10 years from a large Veterans Administration (VA) hospital were reviewed. METHODS:Archived histories, glass slides, an...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.0303-6987.2004.00207.x
更新日期:2004-07-01 00:00:00
abstract::Pleomorphic fibromas represent dome-shaped or polypoid cutaneous lesions characterized by a paucicellular and densely fibrotic background punctuated by scattered atypical to pleomorphic spindle and multinucleated giant cells. Some of these tumors will have incorporated adipose tissue, although these adipocytic areas l...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12095
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Elastophagocytosis, or elastic fiber phagocytosis by multinucleate macrophages, has been observed in different skin conditions that may or may not occur on sun-exposed skin. Although loss of elastic fibers has been well documented in the homogenized papillary dermal zone in lichen sclerosus (LS), elastophago...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2010.01575.x
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Ulceration and osteoclast-like giant cells are two pathological features uncommonly seen in dermatofibromas. To our knowledge, the presence of these features has not been previously described within the same lesion. METHODS:We report the clinical, histopathological and immunohistochemical findings of a 38-y...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2009.01195.x
更新日期:2009-10-01 00:00:00
abstract::We report a new case of a Japanese man who developed a tubular apocrine adenoma in association with syringocystadenoma papilliferum. The differences in the histopathological and immunohistochemical findings in these 2 tumors are described. This is the first immunohistochemical study of tubular apocrine adenoma. ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1989.tb00047.x
更新日期:1989-08-01 00:00:00
abstract::Medallion-like dermal dendrocyte hamartoma is a rare congenital lesion that is more commonly seen in females. It often presents at birth on the neck or upper trunk as a well-circumscribed, atrophic patch with wrinkling of the overlying skin. Clinically, the differential diagnosis includes atrophoderma, anetoderma, and...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13421
更新日期:2019-04-01 00:00:00
abstract::Many melanocytic nevi contain areas similar to nerve sheath tumors (NST) and NSTs with melanin have been described. There are some NSTs with at least partial intraneural location, including neurofibromas, plexiform neurofibromas, granular cell tumors and the recently described, dendritic cell neurofibroma with pseudor...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2007.00733.x
更新日期:2007-12-01 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::We first report a case of granular cell histiocytosis occurring as a solitary polypoid lesion of the nipple in a 15-year-old girl. Histologically, the lesion was composed of a dermal population of medium- to large-sized, short spindle- to round- to epithelioid-shaped cells with eosinophilic cytoplasm containing numero...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2009.01305.x
更新日期:2010-02-01 00:00:00
abstract::Verrucous hemangioma represents a rare congenital vascular proliferation that may be mistaken for angiokeratoma. Histopathological examination of a deep biopsy is necessary to confirm the diagnosis of verrucous hemangioma based on its involvement of the deep dermis and subcutaneous tissue. We present two cases of verr...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0560.2011.01733.x
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Fatty acid synthase (FAS), the key enzyme responsible for the synthesis of fatty acids, is weakly expressed in some normal human tissues. Recently, FAS has been demonstrated to be overexpressed in many non-neoplastic highly proliferative lesions and in aggressive carcinomas with poor outcome, including colon...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2003.300104.x
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:Direct immunofluorescence (DIF) testing is an important procedure in the diagnosis of autoimmune bullous dermatoses. We investigated the expression of C3d in formalin-fixed, paraffin-embedded tissue of autoimmune bullous dermatoses. METHODS:The immunohistochemical expression of C3d in bullous pemphigoid (BP...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2009.01450.x
更新日期:2010-06-01 00:00:00
abstract::Mycosis fungoides (MF) is a rare type of non-Hodgkin's lymphoma affecting the skin. Because MF develops slowly over several years and may have a variety of clinical presentations, including itchy patches, plaques or tumors that may be confused with common benign conditions such as eczema and psoriasis, the disease pre...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0560.2006.00662.x
更新日期:2007-07-01 00:00:00
abstract::Sinonasal non-keratinizing squamous cell carcinoma (SCC), previously designated as transitional cell carcinoma or cylindrical cell carcinoma, is an uncommon malignant neoplasm with distinct histopathological features, considered to be a low-grade malignancy that usually occurs in elderly patients. Extensive local inva...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2012.01939.x
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:The use of immunohistochemical (IHC) stains in dermatopathology is commonplace; however, little is known regarding utilization trends in melanoma diagnosis. Current Medicare local coverage determinations (LCDs) state that most pigmented lesions, including melanoma, can be diagnosed using H&E alone. METHODS:...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.13648
更新日期:2020-05-01 00:00:00
abstract::Study of 14 patients with prurigo nodularis revealed that clinically the lesions were multiple, verrucous, and discrete and were set in normal-appearing skin. Microscopically, the lesions showed a vascular acanthomatous mass. The dermal nerves showed a tendency toward hyperplasia in parallel with the epidermal and vas...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1979.tb01161.x
更新日期:1979-10-01 00:00:00
abstract:BACKGROUND:Among the pigmented lesions with a central area of scar, we found a group of cases histologically characterized by striking architectural alteration of the melanocytic component, but with no cytological atypia and mitotically quiescent. The aim of the current study was to assess the biological nature of such...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2007.00941.x
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:Hypertrophic lichen planus (LP) is a variant of LP favoring the lower extremities and showing prominent epidermal hyperplasia and hyperorthokeratosis. Contrary to dogma that eosinophils are rare in LP and variants, we noticed that some cases of hypertrophic LP have eosinophils in the absence of drug history....
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12275
更新日期:2014-04-01 00:00:00
abstract::Imiquimod (AldaraTM), a Toll-like receptor 7 agonist (TLR7), is known for its unique properties of being an immune response modifier and stimulator. Upon topical application, this TLR7 agonist triggers a cell-mediated immune response predominantly expressed by dendritic cells and monocytes. Local skin irritation at th...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2010.01592.x
更新日期:2011-04-01 00:00:00
abstract::True human tails are rare vestigial structures that are typically removed in childhood. Here a case is presented in which an inconspicuous sacrococcygeal tail was incidentally discovered in late adulthood. A 56-year-old man with no significant past medical history presented to a dermatology clinic with a chief complai...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.12820
更新日期:2017-01-01 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::Pigmented extramammary Paget disease (PEMPD) is a rare intraepithelial carcinoma which can clinically resemble other pigmented neoplasms. Similarities to melanoma on dermoscopy, histopathology, and reflectance confocal microscopy (RCM) increase the risk of misdiagnosis and, consequently, mismanagement. Here, we descri...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13804
更新日期:2020-12-01 00:00:00
abstract::Pigment-synthesizing melanoma (PSM) describes a morphologically and genetically diverse group of melanomas. In contrast, pigmented epithelioid melanocytoma (PEM) encompasses a spectrum of indolent tumors now classified as borderline/intermediate melanocytic tumors. Herein, we report a case of widely metastatic heavily...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13485
更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:The diagnosis of 'cellular dermal nodule in melanocytic nevi' is challenging, as it can simulate invasive and tumorigenic melanoma. Because cellular nodules are presumed benign, it is essential to differentiate them from true malignant melanoma arising within a nevus, which portends a poor prognosis. Althoug...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.0303-6987.2004.00156.x
更新日期:2004-02-01 00:00:00