Abstract:
:We describe a patient with thrombocytopenia-absent radius (TAR) syndrome, multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas. A mutational study by massive sequencing identified the Val600Glu (V600E) BRAF mutation in the Langerhans cell histiocytosis lesions, but no molecular alterations were found in the reticulohistiocytoma lesions. The concomitant presence in the same patient of more than one type of histiocytosis from two different groups recognized in the most recent Histiocyte Society classification is an extremely rare event. Our case is the first reported case of multisystemic Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome.
journal_name
J Cutan Patholjournal_title
Journal of cutaneous pathologyauthors
Hipólito LN,Mendoza-Cembranos MD,Villaescusa MT,Jo-Velasco M,Requena L,Alegría-Landa Vdoi
10.1111/cup.13483subject
Has Abstractpub_date
2019-08-01 00:00:00pages
609-612issue
8eissn
0303-6987issn
1600-0560journal_volume
46pub_type
abstract::Atypical fibroxanthoma (AFX) is an uncommon cutaneous neoplasm of pleomorphic myofibroblast-like cells. Diagnosis requires exclusion of other undifferentiated spindle and pleomorphic cell neoplasms by immunohistochemistry. We report two patients with p63-non-reactive spindle cell neoplasms which resembled AFX but demo...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12548
更新日期:2015-11-01 00:00:00
abstract::Factor XIIIa (FXIIIa), a blood and intracellularly produced coagulation factor, has been found in a variety of cell types including fibroblast-like mesenchymal cells, and has been shown to stimulate the proliferation of fibroblasts and some neoplastic cells in vitro. We have already shown that the dendritic fibroblast...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1989.tb00050.x
更新日期:1989-10-01 00:00:00
abstract:BACKGROUND:Recently, an intriguing concept was introduced into the literature that defines the area underlying the nail bed as a specific mesenchymal substructure unique to the nail organ. It has been termed onychodermis. The onychodermis expresses CD10 with remarkable specificity. Herein, we compare adult and fetal hu...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12101
更新日期:2013-05-01 00:00:00
abstract::Two patients with solitary lesions of pagetoid reticulosis are presented. A third case with disseminated lesions and similar microscopic detail is also reported. Lighg microscopic findings include an abnornal cell infiltrate confined to the epidermis and distributed diffusely in a pagetoid pattern. In ultrathin sectio...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1979.tb01112.x
更新日期:1979-04-01 00:00:00
abstract::Trichilemmoma is considered a benign neoplasm derived from the outer root sheath of the hair follicle. Although the histogenesis of the lesion is unknown, a relationship between human papillomavirus (HPV) infection and development of these tumors has been suggested on morphologic observations. In order to determine wh...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1991.tb00152.x
更新日期:1991-06-01 00:00:00
abstract::Papillary renal cell carcinoma (RCC) is an uncommon subtype of RCC that is typically encountered at early stages and has a high survival rate. Histopathology typically shows well-defined papillary architecture with tumor cells lining fibrovascular cores and can be further subdivided into type 1 and type 2 tumors based...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13546
更新日期:2019-12-01 00:00:00
abstract::Lymphomatoid granulomatosis (LG) is a rare Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative disorder presenting in middle adulthood that nearly always affects the lungs and shows cutaneous involvement in up to 50% of cases. Skin lesions are present at the time of diagnosis in roughly one-third of patient...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12402
更新日期:2015-03-01 00:00:00
abstract::Antibodies reactive with S100 protein are useful markers in a diagnostic immunohistochemistry laboratory dealing with cutaneous tumors. However, S100 protein is not a single protein but instead a group of S100 proteins with diverse functions. S100 proteins constitute a family of acidic calcium-binding proteins that ar...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0560.1998.tb01735.x
更新日期:1998-11-01 00:00:00
abstract::The low-fat and fat-free spindle cell lipomas (SCLs) are rare and often mistaken for other benign and malignant morphological mimics, because of the fact that the diagnosis relies on its non-lipogenic component analysis. Here, we report the clinicopathological features of two oral SCLs (low-fat and fat-free variants)....
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章,评审
doi:10.1111/cup.13512
更新日期:2019-10-01 00:00:00
abstract::Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare cutaneous adnexal malignancy with predilection for the eyelids of older adults. It must be distinguished from metastatic adenocarcinomas of extracutaneous origin and from benign adnexal proliferations on partial samples when a solid growth component an...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.13831
更新日期:2021-01-01 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::Long-term survivors of harlequin ichthyosis (HI) have raised a controversy over the differences between HI and lamellar ichthyosis (LI). Abnormal lamellar granules and the failure of conversion from profilaggrin to filaggrin have been reported in HI. On the other hand, malformation of the cornified cell envelope as a ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1996.tb01452.x
更新日期:1996-12-01 00:00:00
abstract::Large cell neuroendocrine carcinoma (LCNEC) of the larynx is an aggressive form of neuroendocrine carcinoma that affects smokers at an average age of 60 years. LCNEC is characterized by large cells with round to ovoid nuclei distributed in a trabecular or nested growth pattern. Previously, laryngeal LCNEC and atypical...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13090
更新日期:2018-03-01 00:00:00
abstract::This report documents the case of a 64-year-old African-American female with new end-stage renal disease (ESRD), diagnosed with systemic lupus erythematosus (SLE) on renal biopsy and serologies including a positive ANA (>1:2560), positive anti-Sm antibodies, low titer anti-RNP antibodies, high titer anti-Ro antibodies...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13493
更新日期:2019-09-01 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::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::The expression and localization of connexin 43 (Cx43) were investigated in normal human epidermis, pilosebaceous apparatus, basal cell carcinoma, and squamous cell carcinoma by immunofluorescence as well as by immunoelectron microscopy. In the normal epidermis the immunofluorescence was weak in the basal layer, increa...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1997.tb01094.x
更新日期:1997-11-01 00:00:00
abstract::The authors report the occurrence of lichenoid and/or subacute lupus erythematosus-like eruptions in a group of patients receiving agents with antihistaminic properties. In 1 of the patients the eruption clinically resembled lichen planus, while in 5 patients the eruption resembled subacute cutaneous lupus erythematos...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1999.tb01809.x
更新日期:1999-02-01 00:00:00
abstract::Misonidazole, a hypoxic cell radiation-sensitizer, has been used in vivo to analyze its effect on normal and x-irradiated epidermis. The drug action was evaluated 3 days after being implanted subcutaneously. The response of the epidermis and especially of the basal cells to the drug alone and in combination with x-rad...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1981.tb00991.x
更新日期:1981-04-01 00:00:00
abstract::We carried out a quantitative study of the matrix and dermal papilla of the human hair follicle of the scalp, both normal and in various degrees of androgenetic alopecia. A stereological study showed the measured parameters to decrease with increase in the degree of alopecia, particularly as regards the total volume o...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1993.tb01273.x
更新日期:1993-08-01 00:00:00
abstract:BACKGROUND:Cutaneous epithelioid angiosarcoma is a type of cutaneous angiosarcoma and usually arise both on the head or neck of the elderly. CASE REPORT:An 86-year-old male with an epithelioid angiosarcoma of the scalp that mimicked malignant melanoma. RESULTS:A large irregular dark grey-blue plaque with an adjacent ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.0303-6987.2006.00387.x
更新日期:2006-01-01 00:00:00
abstract::We report an unusual case occurring in a 25-year-old male of a balloon cell nevus which also showed clinical and pathological features of a halo nevus. ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1986.tb01512.x
更新日期:1986-04-01 00:00:00
abstract::Folliculo-sebaceous cystic hamartoma (FCH) was described as an entity recently and was defined as an adnexal hamartoma, showing above all an infundibular cystic structure linked to many sebaceous lobules. Differentiation toward the inferior segment of the hair follicle also occurs, although to a markedly lesser degree...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1998.tb01758.x
更新日期:1998-08-01 00:00:00
abstract::Adult-onset Still disease (AOSD) is a rare autoinflammatory syndrome characterized by recurring fevers, arthralgia, and consistent laboratory abnormalities that include leukocytosis and hyperferritinemia. Skin findings accompany the disease in nearly 90% of the cases. Early reports described evanescent, pruritic, salm...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12935
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Nickel can induce cellular and nuclear damages responsible for chronic diseases, like allergic contact dermatitis (ACD). We previously showed that matrix metalloproteinase-2 (MMP-2) gene expression was induced by nickel in nontumorigenic human keratinocytes cell line (HaCat). OBJECTIVE:To investigate the si...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00647.x
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Diagnosis of autoantibody- and immune complex-induced skin diseases is primarily based on direct immunofluorescence (DIF) microscopy. DIF staining is usually performed manually and, therefore, is labor intensive. The quality of immunohistochemical results considerably depends on the experience of the person ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12637
更新日期:2016-03-01 00:00:00
abstract::A 31 year old Indian woman presented with bilateral axillary masses that became noticeable with the onset of puberty. The masses exhibited similar consistency to the adjacent normal breast tissue but lacked an associated nipple complex. The clinical impression was lipoma; however, mammography, ultrasonography and skin...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00713.x
更新日期:2007-12-01 00:00:00
abstract::Keratoacanthoma (KA), an epithelial neoplasm occurring in sun-exposed skin of the elderly, is considered a well-differentiated form of conventional squamous cell carcinoma (SCC) that often follows a course of spontaneous regression. Distinguishing KA from conventional SCC or pseudocarcinomatous epithelial hyperplasia ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12247
更新日期:2014-02-01 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::We carried out a cytophotometric study of the DNA content of matrix cells from normal hair follicles and those affected by androgenetic alopecia (early and established baldness), using the Feulgen technique. We thereby obtained a 2C reference value from lymphocyte nuclei from normal skin, from which we established a 2...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1994.tb00709.x
更新日期:1994-08-01 00:00:00