American Journal of Dermatopathology (AM J DERMATOPATH )


The American Journal of Dermatopathology offers outstanding coverage of the latest diagnostic approaches and laboratory techniques, as well as insights into contemporary social, legal, and ethical concerns. Each issue features review articles on clinical, technical, and basic science advances and illuminating, detailed case reports.

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    American Journal of Dermatopathology, The website
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    The American journal of dermatopathology
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Publications in this journal

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    ABSTRACT: : Brooke-Spiegler syndrome (BSS) and its phenotypic variants, multiple familial trichoepithelioma (MFT) and familial cylindromatosis, are rare autosomal dominant hereditary diseases. They are characterized by the presence of multiple adnexal tumors, especially cylindromas, spiradenomas, spiradenocylindromas, and trichoepitheliomas. Implicated in the pathogenesis of the disease is the gene CYLD, which is localized on the long arm of chromosome 16. This gene encodes an evolutionarily conserved protein belonging to the deubiquitinating enzymes family, which plays a key role in many signaling pathways, especially in NF-κB, JNK, and Wnt. Less than 90 germline mutations of CYLD have been identified in patients with BSS/MFT. These mutations are mostly small alterations in the coding sequence and at exon-intron junction sites. One patient with an intronic mutation and another with a large CYLD deletion have also been recorded. In this study, the authors have analyzed a cohort of 14 patients with BSS/MFT from 13 families for large genome rearrangements by array comparative genome hybridization followed by confirmatory sequencing. We identified 2 large deletions, namely c.-34111_*297858del378779 and c.914-6398_1769del13642ins20 in patients with MFT and BSS, respectively. All other analyzable patients did not reveal any copy number alteration. It is concluded that the large rearrangements are relatively rare in patients without a germline CYLD mutation demonstrable by conventional sequencing. The pathogenetic mechanisms in patients with BSS/MFT lacking germline sequence alterations or large rearrangements in the CYLD gene remain to be clarified.
    American Journal of Dermatopathology 11/2014; 36(11):868-74.
  • American Journal of Dermatopathology 10/2014;
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    ABSTRACT: : Primary cutaneous gamma-delta T-cell lymphoma (CGD-TCL) is a rare cutaneous T-cell lymphoma characterized by a rapidly progressive clinical course and a poor prognosis. We report a case of a 52-year-old man with a 10-year history of erythematous nodules and a rapid terminal progression diagnosed as CGD-TCL. Biopsies taken at the time of progression showed a dense lymphocytic infiltrate involving the subcutaneous adipose tissue and deep dermis. One of the biopsies displayed much more limited involvement by CGD-TCL that was nearly identical to the biopsies of the erythematous lesions 10 years before. In conclusion, this case demonstrates a case of CGD-TCL presenting as a longstanding indolent disease with a rapid terminal progression. The indolent clinical course and histological heterogeneity make diagnosing this entity during the initial stage extremely challenging. This case underscores a diverse clinical presentations and a need to consider CGD-TCL in patients showing subcutaneous lesions with an indolent clinical course.
    American Journal of Dermatopathology 10/2014; 36(10):839-842.
  • American Journal of Dermatopathology 10/2014;
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    ABSTRACT: : A subset of facial melanoma in situ has histological features that overlap with those of "dysplastic" nevi. The authors evaluated this important diagnostic pitfall by assessing the frequency of melanoma as the final diagnosis in skin biopsies submitted over a 1-year period with a clinical impression of "atypical" or dysplastic nevus from the head or neck of adults. A total of 1998 biopsies met inclusion criteria. Final diagnoses included both melanocytic and nonmelanocytic processes. Clear trends were noted based on the age of the patient with benign nevi encompassing nearly 70% of specimens in patients aged 21-29 years and <10% in patients aged 70 years and above. The incidence of atypical nevi decreased with age (16% in 21-29 years, 3% in age 70+ years). Nineteen of the 180 (10%) atypical nevi in our series were located on the face (7, cheek; 6, forehead; 3, jawline; and 3, temple), a location not traditionally associated with atypical nevi. Facial atypical nevi were found in all age groups. Malignant melanoma accounted for 1.8% of all specimens increasing from 0% in the patients aged 21-29 years to 5% in patients aged 70 years and above. Caution is warranted when evaluating skin biopsies from sun-damaged skin of the head or neck of an older adult submitted with a clinical diagnosis of atypical nevus. However, the authors' findings suggest that atypical nevi with histological features of dysplastic nevi occur on the head and neck of adults, including elderly adults. The incidence of such lesions decreases with age as the incidence of melanoma increases, and careful clinicopathologic correlation is vital.
    American Journal of Dermatopathology 10/2014; 36(10):829-831.
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    ABSTRACT: : Cutaneous manifestation as the first sign of Hodgkin lymphoma (HL) is very rare and diagnostically challenging; especially, because the clinical presentation of specific skin involvement by HL is polymorphous. We present a 44-year-old man with erythematous indurate papules and plaques in the right forearm and arm where skin biopsy showed an HL. He also has an enlarged epitrochlear node, and later histopathologic study confirmed the diagnosis of HL subtype-mixed cellularity. Immunohistochemical stains in both biopsies showed that the atypical cells were positive for CD30 and CD15, and negative for CD20 and CD3. PAX5 stained the nuclei of the atypical large lymphoid cells weakly and Oct-2 staining was negative in the atypical cells. EBER and LMP1 protein were negative in both biopsies. Epitrochlear involvement in HL, like in our case, is a rare event (<1%). We reviewed data about prognosis, clinical appearance, and treatment of all the cases of HL specific skin involvement published after Sioutos et al, emphasizing the cases where HL specific skin involvement was the first sign of the disease as in our patient.
    American Journal of Dermatopathology 07/2014;
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    American Journal of Dermatopathology 04/2011; 33(3):331-331.
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    ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
    American Journal of Dermatopathology 01/2011; 33(1):103-104.
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    ABSTRACT: Many of the histopathologic criteria used to diagnose melanoma overlap with atypical but otherwise benign naevi such as dysplastic or Spitz naevi. Galectin-3 is a member of the galectin gene family and is expressed at elevated levels in a variety of neoplastic cell types. The aim of the present study was to investigate the diagnostic value of galectin-3 expression compared with homatropine methyle bromide-45(HMB-45) (one of the established and widely used immunohistochemical melanocytic markers) together with assessment of its prognostic value in melanoma lesions. This study was carried out on 21 cases of melanoma and 20 benign pigmented naevi. Galectin-3 was expressed in all the examined benign and malignant melanocytic lesions. The nucleocytoplasmic pattern of galectin-3 appeared in malignant cases only with 42.86% sensitivity, 100% specificity, and 70.73% accuracy. This pattern tended to be associated with thick melanoma (P = 0.08) and reduced survival (P = 0.22). The intensity of galectin-3 assessed by H-score was significantly of higher values in malignant lesions compared with benign lesions (P < 0.0001). The best cut-off value for discrimination between benign and malignant melanocytic lesions was 295 with 95% sensitivity, 70% specificity, and 83% accuracy. The diagnostic power of galectin-3 in distinguishing between benign and malignant melanocytic lesions relies on the pattern and the intensity of its expression. The nucleocytoplasmic pattern of galectin-3 expression carries greater probability of a malignant phenotype and a poor prognostic impact on patients' outcome.
    American Journal of Dermatopathology 11/2010; 32(8):809-814.
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    American Journal of Dermatopathology 09/2010; 32(7):747.
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    ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
    American Journal of Dermatopathology 03/2009; 31(2):209.
  • American Journal of Dermatopathology 01/2008;
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    American Journal of Dermatopathology 11/2007; 29(6):597-598.
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    ABSTRACT: Dermatofibrosarcoma protuberans (DFSP) represents a locally aggressive mesenchymal neoplasm of skin and subcutis with characteristic clinicopathologic, immunohistochemical, and molecular findings. In addition to typical cases, morphologic variants such as pigmented, fibrosarcomatous, myofibroblastic, and granular cell DFSP have been described. Purely or predominantly myxoid DFSP is extremely rare, and may cause considerable diagnostic problems. Eight cases of predominantly myxoid DFSP were studied. Paraffin-embedded blocks and slides were retrieved from the files of the authors. Clinical data were obtained from the referring pathologists and dermatologists. Immunohistochemistry was performed using the ABC method, and three cases were studied by polymerase chain reaction technique. There were six male and two female patients (age range: 29 to 74 years). Locations included the inguinal area (three cases), thigh, upper arm, shoulder, abdominal wall, and back (one each). The patients were treated by wide excision as well as reexcision. Tumor size ranged from 1.5 to 12 cm. Histologically, a nodular growth with peripheral diffuse infiltration, as well as a diffusely infiltrating growth of relatively uniform spindled and stellated tumor cells containing slightly enlarged nuclei, was noted. Three cases were entirely myxoid, and in five cases more than 80% of the tumor area showed myxoid stromal changes. In two cases each, focal fibrosarcomatous and focal giant cell fibroblastoma-like changes were present. At least focally, hypocellular areas were evident in one case. Scattered enlarged tumor cells were seen in two cases. The mitotic rate ranged from 1 to 10 mitoses in 10 high-power fields. Numerous blood vessels with slightly fibrosed vessel walls were seen in seven cases. Immunohistochemically, tumor cells in all cases stained positively for CD34, and in one case each a focal expression of alpha-smooth muscle actin and epithelial membrane antigen (EMA) was noted. The remaining antibodies (CD99, CD31, S-100, Factor XIIIa) were all negative. Polymerase chain reaction technique showed in one case the characteristic COL1A1-PDGFB fusion gene. Follow-up information in seven cases (range: 2 months to 10 years; mean: 62 months; median: 48 months) revealed a local recurrence at 5 years. In conclusion, myxoid DFSP represents a very rare morphologic variant with characteristic changes that has to be distinguished from benign and malignant myxoid mesenchymal neoplasms as superficial angiomyxoma, superficial acral fibromyxoma, myxoid solitary fibrous tumor, myxoid perineurioma, low-grade myxofibrosarcoma, low-grade fibromyxoid sarcoma, myxoid liposarcoma, and myxoid synovial sarcoma.
    American Journal of Dermatopathology 11/2007; 29(5):443-8.
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    ABSTRACT: Although dendritic, melanin-containing melanocytes can be seen in a variety of epithelial neoplasms, only 0.01% to 7% of all squamous cell carcinomas (SCC) are pigmented. Furthermore, most reported cases have occurred in the oral and ocular mucosa, with relatively few cases reported to originate in the skin. Herein we report a case of a 61-year-old Caucasian male who presented with a large blue-black nodule on his left cheek, clinically suspicious for a melanoma; however, histological evaluation revealed an acantholytic pigmented squamous cell carcinoma. Previous cases are reviewed and the clinical and histological differential diagnoses are discussed.
    American Journal of Dermatopathology 11/2007; 29(5):486-9.
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    ABSTRACT: Hemophagocytic syndrome includes fever, hepatosplenomegaly, cytopenias, coagulopathy, and abnormal liver function tests, with some patients developing lymphadenopathy and cutaneous eruptions. Herein we report two cases of dermal perivascular hemophagocytosis identified in skin biopsies of two patients with no additional symptoms attributable to hemophagocytic syndrome. Biopsies showed capillary ectasia with dermal perivascular infiltrates. The overlying epidermis and adjacent subcutaneous fat was unremarkable. The infiltrate consisted of perivascular neutrophils and benign histiocytes with predominately phagocytized erythrocytes and occasional engulfed karyorrhectic debris. Perivascular nuclear dust (leukocytoclasia) and extravasated erythrocytes were present, but other factors typically found in leukocytoclastic vasculitis were absent, namely fibrin deposition and endothelial hypertrophy and/or necrosis. This appears to be hemophagocytosis, possibly associated with late lesions of leukocytoclastic vasculitis. Both hemophagocytosis and leukocytoclastic vasculitis are associated with activated immunity with increased cytokines and/or immune complexes. It is important to consider this uncommon finding in the evaluation of indeterminate cutaneous eruptions.
    American Journal of Dermatopathology 11/2007; 29(5):467-9.
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    ABSTRACT: Nephrogenic systemic fibrosis (NSF), also known as nephrogenic fibrosing dermopathy (NFD), occurs in renal failure patients after gadolinium contrast exposure. The fibrosis of the dermis and subcutaneous septae accompanies fibrosis of other organs, including the heart, liver, lungs, and muscle. The fibrotic skin demonstrates increased dermal collagen, fibroblasts, and mucin. The mechanism by which gadolinium is associated with fibrosis is not known. We tested the hypothesis that upregulation of transglutaminases contributes to the fibrosis seen in the organs, including skin, of renal failure patients exposed to gadolinium contrast. We performed immunohistochemical studies using antibodies to transglutaminase-2, factor XIIIa, transglutaminase isopeptide, and the histiocyte marker CD68 on five archived skin biopsies of NSF. The results indicate that the dermal fibroblasts and histiocytes of NSF express transglutaminase-2, CD68, factor XIIIa, and transglutaminase isopeptide, indicating increased expression and/or activation of transglutaminases in NSF. We recommend further research into the use of transglutaminase inhibitors in the treatment and prevention of NSF.
    American Journal of Dermatopathology 11/2007; 29(5):433-6.
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    ABSTRACT: Type I collagen arginine-to-cysteine (R-to-C) substitutions were found in three middle-aged adults suffering from spontaneous dissection of medium-size arteries. This disorder enters the heterogeneous spectrum of the Ehlers-Danlos syndrome (EDS). Despite similar genetic mutation and arterial alterations, two distinct clinical presentations were identified showing signs of either the EDS classic type or premature osteopenia alone. Ultrastructural changes were found in the dermal collagen fibrils, elastic fibers, and proteoglycan components. The cross-section of most collagen fibrils was rounded, but with diverse diameters. Flower-like outlines of collagen fibrils were rarely disclosed. Large hyaluronic acid globules pushed apart the collagen bundles in the case with EDS classic-type presentation. Elastic fibers contained unusual annular microcalcifications. In conclusion, ultrastructural changes were found in diverse connective-tissue components despite the fact that the mutations were found to be specific for the collagen molecules. In addition, two distinct clinical presentations were found and were correlated with peculiar ultrastructural alterations.
    American Journal of Dermatopathology 11/2007; 29(5):449-51.