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Background: Localized lymphedema is a nonneoplastic condition associated with obesity and predominantly involving the legs. This condition has distinctive clinical and histologic features and only rarely has been mentioned in the dermatologic literature., Objective: We sought to evaluate the clinical and histopathologic features., Methods: The clinicopathologic features in patients with localized lymphedema of the genital region were studied., Results: We identified 18 patients with localized lymphedema clinically presenting as large polypoid or verrucous lesions. The patients were 5 men and 13 women with a mean age of 46.5 years. Twelve patients were obese at diagnosis. Thirteen patients presented with tumors involving the vulva, 4 patients with tumors in the penis and scrotum, and 1 patient with scrotal and pubic lesions. Histologically, all cases showed marked dermal edema along with dilated lymphatic spaces, fibroplasia, and verrucous epidermal changes (papillomatous and hyperplastic epidermis)., Limitations: Only 18 cases were included in our study., Conclusions: This condition is an uncommon and recently described entity that could potentially be clinically and histologically misdiagnosed as a neoplasm; thus, it needs to be included in the differential diagnosis of polypoid and verrucous skin tumors with extensive dermal edema and fibroplasia., (Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.)

The authors report a case of cutaneous angiosarcoma, composed predominantly of cytologically bland foamy cells, mimicking cutaneous xanthoma, dermal clear cell mesenchymal neoplasm, or clear cell dermatofibroma. The tumor occurred on the forehead and scalp of an 86-year-old white man with no history of radiation exposure. The tumor cells were positive for CD31, CD34, D2-40, FLI-1, and ERG, and were negative for CD68 and CD163. Conventional vasoformative areas, with atypia and mitoses that led to the correct final diagnosis, were found only in 1 of the 2 performed biopsies. Foamy cell angiosarcoma is probably one of the least common variants of cutaneous angiosarcoma and represents an important diagnostic pitfall.

Three cases with CD8+ small- to medium-sized lymphoproliferations in the skin at extrafacial sites are described. Clinically, the patients presented with papulonodular or plaque-like lesions without preceding patches. Histopathologically, nonepidermotropic nodular or diffuse infiltrates were composed of small- to medium-sized pleomorphic lymphocytes, which expressed CD8 (more than 80% of the cells) and granzyme B (60%-70% of the cells), but were negative for CD4, CD30, and CD56. There was no association with Epstein-Barr virus. A clonal T-cell population was detected in 2 patients. Staging examinations did not reveal extracutaneous involvement. The 2 patients with solitary lesions underwent complete remission after radiation therapy, whereas 1 patient developed multifocal lesions and several recurrences. These CD8+ small- to medium-sized lymphoproliferations of the skin at extrafacial sites may belong to a spectrum of phenotypically and prognostically heterogeneous cutaneous small- to medium-sized lymphoid proliferations, which are characterized by an indolent course in most patients.

The blueberry muffin baby syndrome can be caused by a variety of entities, both neoplastic and nonneoplastic. We present a rare cause of this syndrome: congenital extraosseal Ewing sarcoma. The patient was a blueberry muffin baby with a retroperitoneal tumor, whose cells were negative for neuronal markers and CD-99 immunohistochemically but were positive for a breakpoint in EWSR1 gene. This tumor could be one of the most primitive/undifferentiated examples in the Ewing/peripheral primitive neuroectodermal tumor family.

The association of tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD), termed TSC2/PKD1 contiguous gene syndrome, is a result of molecular defect demonstrating by deletion disrupting TSC2 and PKD1. Dermatopathology of this syndrome has never been addressed. We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Both patients presented with a typical phenotype of TSC and early-onset renal polycystic requiring kidney transplantation in one of the patients. Of a total of 13 cutaneous lesions studied, there were 7 facial angiofibromas, 2 shagreen patches, 1 periungual fibroma, 1 hypopigmented macule, 1 epidermoid cyst, and 1 intradermal melanocytic nevus. The histological features were basically similar to those occurring in TSC, but some unusual features were identified. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test. It is concluded that the histopathological features of skin lesions in this syndrome are similar to those encountered in TSC. Clinical awareness and appropriate molecular investigation of TSC2/PKD1 contiguous gene syndrome is necessary in all patients with a typical phenotype of TSC in infancy, adolescence, or adult age, because of severity of the renal alterations.

We studied 53 cutaneous lymphoproliferative disorders, all of which manifested hair follicle hyperplasia. There were 42 cases conforming to the description of pseudolymphomatous folliculitis (PLF) and 11 cases of authentic lymphomas including mycosis fungoides, CD30+ anaplastic large cell lymphoma, diffuse large B-cell lymphoma, B-cell small cell lymphoma/leukemia, and peripheral T-cell lymphoma, not otherwise specified. All patients with PLF clinically presented with a solitary nodule preferentially involving the face. Beside hair follicle hyperplasia, the typical features were a dense infiltrate of small well-differentiated lymphocytes, lymphoplasmacytoid cells, plasma cells, and epithelioid histiocytes forming tiny granulomas. Some unusual or worrisome features recognized included eccrine/apocrine duct hyperplasia, subcutis/muscle infiltration, lymphocyte "smudging," single file infiltration, and large atypical cells. Immunohistochemically, T-cell predominant cases dominated in the series. All 34 tested cases revealed a polyclonal pattern of kappa and lambda immunoglobulin (Ig) light chain expression. In 4 cases, scattered CD30+ cells were identified. Monoclonal rearrangements of T-cell receptor (TCR) and IgH genes were detected in 19 and 3 cases respectively, including 1 case with dual T-cell receptor/IgH rearrangement. Three of 30 tested cases proved positive for herpes simplex virus-1, whereas herpes simplex virus-2 always tested negative. Of 31 cases tested for Borrelia burgdorferi, 30 specimens were negative. In 9 cases, fluorescent in situ hybridization for t(11;18) and t(14;18) revealed none of the above translocations. The most common treatment modality was surgical removal. Forty patients with a mean follow-up of 3.7 years included 39 patients with no evidence of disease and 1 individual with local recurrence. The comparison of "clonal cases of PLF" and those with polyclonal population or in which clonality remained undetermined revealed no differences between the 2 groups in the clinical presentation, pathologic, and immunohistochemical features. We conclude that hyperplasia of hair follicles and other adnexa can be seen not only in the condition currently known as PLF, but also in genuine cutaneous lymphomas and may be just a happenstance secondary to a basic pathologic process.

Background: Seventy-one cases of scar-related and spontaneous endometriosis of the skin and superficial soft tissue were studied, with a focus on atypical features and types of müllerian differentiation. All patients were women, whose ages ranged from 22 to 65 years (median, 32 years)., Methods: Histological, immunohistochemical, and electronmicroscopic studies were performed. Clinical information was ascertained via a questionnaire solicited by the referring physicians., Results: All types of metaplastic changes of müllerian epithelium were found, including tubal (61%), oxyphilic (15%), hobnail (10%), mucinous (4%), and papillary syncytial (3%) metaplasia. Atypical features included reactive atypia (23%) and atypical mitoses in glandular epithelium (6%). Stromal changes included smooth muscle metaplasia (31%), decidualization (<1%), stromal endometriosis (<1%), and elastosis (<1%). Other features recognized included lipoblast-like cells (15%), some with intranuclear inclusions; atypical/degenerative myocytes (10%); spiral arteries (4%); and perineurial invasion (<1%). CD56 staining identified large granular lymphocytes in 15 of 20 studied specimens. Ultrastructurally, these cells showed cytoplasmic granules, some with a delimiting membrane., Limitations: This study utilizes tissue specimens that mainly were received as consultations; therefore some inherent selection bias exists. Specimens were randomly selected for CD56 immunostaining, leading also to potential sampling error., Conclusions: All types of müllerian metaplasia can be encountered in cutaneous endometriosis. In addition, so-called atypical features described in endometriosis affecting other anatomic sites may be seen in the skin. Some features may represent a diagnostic pitfall.

We report a case of subcutaneous splenosis in the abdominal wall of a 23-year-old oligophrenic man. It presented as a well-demarcated 8 x 7 x 5-cm subcutaneous tumor in the left inguinal area closely above the scar after a previous operation for hernia. The lesion simulated clinically a hernia or a tumor due to its large size and location and, additionally, no history could be taken from the patient due to his mental handicap.

Hamartoma is a neoplasm-like lesion composed of an abnormal mixture of tissues native to the area. We report on an unusual example of a hamartomatous lesion that showed an abnormal mixture of elements of the folliculosebaceous-apocrine unit and arrector pili muscle. A 13-year-old female presented with two nodules situated 2 cm apart on the lower leg that were present since birth. The patient reported some enlargement and slight pain of the otherwise asymptomatic lesions during 2 years, before they were surgically removed. The patient obviously had no skin problems afterwards; her 12-year follow-up was significant for leucopenia and nephrolithiasis. The biopsies from both lesions looked identical. Each lesion was biphasic, i.e. composed of a predominant mesenchymal component and epithelial elements. The mesenchymal part resembled a leiomyoma, or in minor areas, the constituting cells had a myofibroblastic appearance. Encased within the mesenchymal component were large infundibulocystic structures and plentiful grouped and scattered roundish solid epithelial nodules, duct-like, glandular, and tubular elements. Some of the epithelial structures were reminiscent of those seen in tubular apocrine adenoma; others resembled syringomatous elements. We interpreted this unusual lesion as a hamartoma of the folliculosebaceous-apocrine unit.

This study characterizes the clinicopathological spectrum of lymphoproliferations involving the breast nipple and/or areola. Morphologic, immunohistochemical, molecular-genetic, and clinical features of 58 specimens from 56 patients were analyzed. They were re-diagnosed as cutaneous lymphoid hyperplasia (CLH, n = 44); other benign lymphoid infiltrates (OBLI, n = 8); peripheral T-cell lymphoma, not otherwise specified (n = 1); cases with overlapping features of CLH and B-cell lymphoma (n = 3), one of them composed of spindle cells. Cutaneous lymphoid hyperplasia infiltrates were dense, composed mainly of B cells forming follicles with germinal centers (GC). Cutaneous lymphoid hyperplasia frequently showed features suggesting a malignancy as coalescing follicles with non-polarized germinal centers lacking mantle zones, and smudged infiltrates of lymphoid cells spreading into collagen (often as "Indian files"), smooth muscle, vessel walls, and nerve sheaths. Only two cutaneous lymphoid hyperplasias recurred; otherwise all patients are without disease (mean follow-up 62 months). Monoclonal rearrangement of immunoglobulin heavy chain gene was detected in five, and of T-cell receptor gamma gene in two cutaneous lymphoid hyperplasias using polymerase chain reaction (PCR), but the patients fared well too. In 47% of cases Borrelia burgdorferi was detected by polymerase chain reaction and/or serology, of which one was monoclonal. We conclude that cutaneous lymphoid hyperplasia is the most common lymphoproliferation of the breast nipple, rarely recognized clinically, and often overdiagnosed histologically as lymphoma.

We report a case of reactive syringofibroadenomatous hyperplasia in peristomal skin. The patient was a 62-year-old woman who had undergone abdominoperineal resection of the rectum for rectal adenocarcinoma with subsequent colostomy 2 years earlier. Clinically, a nodule and small, whitish, warty lesions developed at the outer margin of the stoma extending onto the adjacent skin. Following a clinical suspicion of adenocarcinoma, recurrent at the colostomy site, a 5 x 4 x 3-cm excision of the peristomal skin and the affected portion of the stoma was performed and submitted for histologic examination. The biopsy revealed a peculiar composite lesion of reactive syringofibroadenomatous hyperplasia and the excised part of the stoma. Several unusual histopathological features were detected in the syringofibroadenomatous part of the lesion such as the formation of plentiful hybrid epidermal-colonic mucosa glandular structures, intraepidermal areas of sebaceous differentiation, koilocytic changes, induction of rudimentary hair follicles, and intradermal mucinous lakes. The cellular composition of the glandular structures was mainly similar to that seen in a normal colonic mucosa epithelium. They also contained occasional Paneth cells. Being located at a distance from the stoma, these accentuated colonic mucosa epithelial glands reaching the epidermis may be a diagnostic pitfall prompting the consideration of adenocarcinoma involving the stoma. The rudimentary follicles and sebaceous differentiation were probably induced by an altered stroma and/or human papillomavirus (HPV): HPV, type 36 was identified by PCR using consensus primers followed by sequencing of the PCR products.

Cutaneous squamous cell carcinoma (SCC) exhibiting microcystic adnexal carcinoma-like differentiation is an extremely rare tumor that shows both squamous and ductal differentiation. This tumor is often misdiagnosed clinically and histologically and is confused with other malignant and benign cutaneous neoplasms. It usually occurs in middle-aged to older adults. Here, we report a case of SCC with microcystic adnexal carcinoma-like differentiation on the left chin of a 71-year-old male. The histopathological examination revealed a nodular tumor infiltrating the dermis, subcutaneous fat, and striated muscle tissue, consisting of both prominent atypical squamous differentiation and foci of duct-like structures. [ABSTRACT FROM AUTHOR]

We report a hitherto undescribed unusual CD30+ clonal T-cell proliferation in a 46-year-old man with the lymphocytic variant of hypereosinophilic syndrome with a 17-year history of pruritus, generalized persistent papulonodular skin lesions and peripheral blood hypereosinophilia. A skin biopsy showed an eosinophil-rich infiltrate with small to medium-sized CD30+ lymphocytes and Churg-Strauss granulomas. Peripheral blood flow cytometry revealed an aberrant T-cell clone which, molecular genetically, was identical to the T-cell clone detected in the skin. No genetic aberrations of platelet-derived growth factor receptor alpha ( PDGFRA), FIP1L1-PDGFRA, PDGFRB or FGFR1 were found. The skin lesions showed transient response to systemic and topical corticosteroids. The skin lesions represent cutaneous involvement by clonal T-cells in hypereosinophilic syndrome and differ from known cutaneous CD30+ lymphoproliferative disorders. [ABSTRACT FROM AUTHOR]

Background: Detection of clonality has been reported to be a helpful tool in the diagnosis of cutaneous lymphomas. Monoclonal rearrangement of T-cell receptor genes (TCR) was reported in fresh frozen tissue of lymphomatoid papulosis (LyP) and primary cutaneous anaplastic large-cell lymphoma (ALCL), but the diagnostic value of T-cell clonality in formalin-fixed, paraffin-embedded biopsies has so far not been assessed. Methods: Detection of clonal rearrangement of TCRγ genes by highly sensitive polymerase chain reaction-based automated high-resolution fragment analysis (AHRFA) in archival LyP (n = 18) and ALCL (n = 17) tissue. Results: Detection of clonality differed significantly among the histologic forms of LyP as well as between LyP and ALCL with clonality found in none of the 10 biopsies of LyP type A and B, in 4/8 (50%) of the LyP type C specimens, and in 11/17 (65%) of ALCL cases. Conclusions: T-cell clonality can only be found in a minority (four of 18; 22%) of archival LyP specimens, even when employing a highly sensitive detection method and is thus of limited diagnostic value. Final diagnosis of LyP has to be based mainly on clinical, histologic, and immunohistochemical findings rather than on results of clonality studies. [ABSTRACT FROM AUTHOR]

Background Transformation into a high-grade lymphoma in cutaneous T-cell lymphoma (CTCL) occurs in approximately 25% of cases and is associated with an aggressive clinical course. Methods We identified four cases of transformation of Sézary syndrome (SS) into pleomorphic T-cell lymphoma. Results In all patients, transformation occurred first in the lymph nodes, an average of 43 months after the diagnosis of SS. These high-grade lymphomas were composed of CD30-positive (two patients) and CD30-negative (two patients) pleomorphic large cells. All patients died of lymphoma an average of 29 months after nodal transformation. Conclusion Because of an apparently poorer prognosis, the early recognition of transformation, especially by lymph node biopsy, is important for adequate therapy. [ABSTRACT FROM AUTHOR]