Abstract:
BACKGROUND:Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. The locus for autosomal dominant HHS was mapped to 18p11.32-p11.23 and 6p21.3, respectively, suggestive of genetic heterogeneity. AIM:To identify the disease-causing gene for a four-generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics. METHODS:Genome-wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program. RESULTS:The highest two-point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at theta = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease-causing gene was mapped to 13q12.12 approximately 12.3 in this family. CONCLUSIONS:A novel locus for HHS maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
journal_name
J Cutan Patholjournal_title
Journal of cutaneous pathologyauthors
Xu C,Zhang L,Chen N,Su B,Pan CM,Li JY,Zhang GW,Liu Z,Sheng Y,Song HDdoi
10.1111/j.1600-0560.2009.01415.xsubject
Has Abstractpub_date
2010-07-01 00:00:00pages
758-63issue
7eissn
0303-6987issn
1600-0560pii
CUP1415journal_volume
37pub_type
杂志文章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:BACKGROUND:Although a range of cytomegalovirus (CMV)-induced cutaneous manifestations is described in AIDS patients, skin involvement in immunocompromised patients is rare, and intraneural CMV inclusions or CMV neuritis has not been documented in skin biopsies. METHODS AND RESULTS:Cutaneous biopsies of CMV lesions wer...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2002.290709.x
更新日期:2002-08-01 00:00:00
abstract::Nevic corpuscle in the pigmented nevus was studied under light microscopy in comparison with Meissner corpuscle of the human sole skin in order to determine its ontogenesis. No nerve fibers within nevic corpuscle but coiled fibers in Meissner corpuscle could be demonstrated by Bodian stain. Presence of S-100 protein i...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1984.tb00364.x
更新日期:1984-04-01 00:00:00
abstract::The plasma membrane ultrastructure of the extramammary Paget cells was characterized by freeze-fracture electron microscopy, which was first employed for the study of Paget cells. The Paget cell plasma membrane revealed a flat fractured plane with much fewer and smaller desmosome-particle aggregations than those of th...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1980.tb01210.x
更新日期:1980-12-01 00:00:00
abstract::Perivascular epithelioid cell tumors (PEComas) are a group of lesions sharing the common features of co-expression of melanocytic and myogenic markers, with focal association of the cells with vascular walls. The PEComa group exhibits a wide range of morphologies. A "fibroma-like" variant of PEComa has been recently d...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13647
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Sebaceous tumors are adnexal neoplasms showing sebocytic differentiation. They range from benign to malignant and are associated with Muir-Torre syndrome (MTS). Several clinical and histopathological features associated with MTS have been described. Sebaceous tumors with an overlying cutaneous horn are extre...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12321
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Psoriasis vulgaris is a common chronic inflammatory dermatosis. Disorders in keratinocyte proliferation, differentiation, inflammation and immune dysregulation are the major factors implicated in the pathogenesis of psoriasis vulgaris. METHODS:The study was performed in skin specimens of 25 patients with ps...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00719.x
更新日期:2007-03-01 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::As many as 40% of all primary cutaneous melanomas can have histologic remnants of nevomelanocytic nevi adjacent to the tumor. There is increasing evidence that dysplastic nevi are at least a clinical marker for melanoma risk. Spitz nevi are not known for such an association, but are noteworthy because of their histolo...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1990.tb00110.x
更新日期:1990-12-01 00:00:00
abstract::Endocrine mucin-producing sweat gland carcinoma is a cutaneous adnexal tumor that is rarely reported in the literature. We identified only 29 previously reported cases. All these cases share some clinical morphologic and immunohistochemical features. Among the immunohistochemical markers, cytokeratins 5/6, 8 and 18 (C...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12512
更新日期:2015-08-01 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::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::Epidermolytic hyperkeratosis (EH) is a well-described histopathologic pattern characteristic of bullous congenital ichthyosiform erythroderma, an autosomal dominant genodermatosis. It is also noted in cutaneous disorders where mosaicism leads to containment of the clinical and histopathologic changes. EH has been obse...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00612.x
更新日期:2007-04-01 00:00:00
abstract:BACKGROUND:The Fli-1 transcription factor functions in cellular proliferation and tumorigenesis. Its role in various neoplasms and its presence in lymphocytes suggest a link between Fli-1 dysregulation and the pathogenesis of mycosis fungoides (MF). In this study, we further elucidate this possible link. METHODS:Secti...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00535.x
更新日期:2006-09-01 00:00:00
abstract::Lesions of seborrheic keratoses were studied by scanning electrom microscopy. Numerous yeasts were present on the karatinized cells and hairs associated with the lesions. Surfaces of some yeasts were smooth and others were ruffled. The ruffles suggested the presence of a glycocalyx. The yeasts exhibited the morphologi...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1980.tb00971.x
更新日期:1980-02-01 00:00:00
abstract::Post-vaccinial non-viral folliculitis has been recognized in the past decade as a new adverse cutaneous reaction to smallpox vaccination. Contrary to more serious smallpox vaccine reactions, post-vaccinial non-viral folliculitis has a benign course and resolves spontaneously within approximately 7 days. We describe ad...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12064
更新日期:2013-03-01 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:BACKGROUND:Glial cell line-derived neurotrophic factor (GDNF) and a related family member, neurturin (NTN), as well as their cognate receptors (GDNF receptors, GFRalpha-1 and GFRalpha-2, respectively) are involved in nervous system development and murine hair cycle control. To date, their expression in human scalp skin...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00561.x
更新日期:2006-12-01 00:00:00
abstract::The main histopathological features in the cutaneous lesions of Churg-Strauss syndrome (CSS) are dermal leukocytoclastic vasculitis with a variable eosinophilic infiltrate and non-vasculitic tissue eosinophilia with granuloma formation. This wide histopathological spectrum may account for the various skin manifestatio...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2010.01513.x
更新日期:2011-03-01 00:00:00
abstract::The diagnosis of a CD30+ cutaneous infiltrate is often difficult and requires clinicopathologic correlation. To further evaluate this challenge, initial clinical and histopathologic diagnoses were correlated with final clinicopathologic diagnosis in 44 cases with CD30 immunopositivity. Dermatopathologic evaluation con...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12510
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Pyoderma gangrenosum (PG) is a non-infectious, autoimmune, chronic ulcer of the skin, often co-existing with inflammatory bowel disease (IBD). Matrix metalloproteinases (MMPs) have been implicated as mediators of tissue destruction in chronic cutaneous and intestinal wounds. METHODS:Twenty-four skin biopsie...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2007.00744.x
更新日期:2007-12-01 00:00:00
abstract::The internal organization of plasma membranes was studied in seven subjects with pemphigus vulgaris and in one subject with familial pemphigus using the freeze-fracture technique. The results obtained seem to suggest that the acantholytic process is produced in a similar fashion whatever the pathogenic agent and that ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1980.tb01184.x
更新日期:1980-04-01 00:00:00
abstract:BACKGROUND:Silver dressings have been widely and successfully used to prevent cutaneous wounds, including burns, chronic ulcers, dermatitis and other cutaneous conditions, from infection. However, in a few cases, skin discolouration or argyria-like appearances have been reported. This study investigated the level of si...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2008.01141.x
更新日期:2009-07-01 00:00:00
abstract::Ten patients with traumatic alopecia (trichotillomania) were being investigated histologically and, in five of them, hairs from the affected scalp area were plucked out for direct microscopic examination. Some histologic features appear to be specific markers for traumatic alopecia: empty hair ducts, plucked out hair ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1977.tb00890.x
更新日期:1977-01-01 00:00:00
abstract::CD8+ T-cell lymphomas presenting in the skin are rare. We describe the clinical and histological features of 18 patients with CD8+ cutaneous T-cell tumors, which have been divided into four groups. Seven patients had precedent long histories of rashes, which progressively spread in a presentation similar to that of CD...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2002.290804.x
更新日期:2002-09-01 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
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::The non-specific clinical findings and variable histopathological features of cutaneous tuberculosis and non-tuberculous mycobacterial infections often make it difficult to establish a diagnosis and initiate appropriate therapy. We investigated 25 patients diagnosed with mycobacterial infections of the skin in Hanyang...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2012.01903.x
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:Angiosarcomas arise in the scalp and face in the elderly, in association with chronic lymphedema (Stewart-Treves syndrome), and in irradiated areas. Rarely in these settings, angiosarcomas exhibit pure spindle cell phenotype. METHODS:Herein, the clinicopathologic features of a 72-year-old-woman with spindle...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2002.290206.x
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:The Wnt-signaling pathway, involving beta-catenin, apc, and axin, plays a critical role in numerous developmental events. Alterations in the Wnt-signaling pathway have been detected in a wide variety of neoplasms. However, similar aberrations have not been described in Merkel cell carcinoma (MCC). The aim of...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2006.00577.x
更新日期:2007-01-01 00:00:00