Keratoderma-Like T-Cell Dyscrasia: A Case Report.

Introduction: Cutaneous T-cell dyscrasia (CTCD) encompasses a heterogeneous group of T-cell infiltrates, often clonal and epitheliotropic. While the etiology remains unclear, certain medications, including statins, have been linked to cutaneous T-cell lymphocytic infiltrate development.

Case Description: A patient presented with a pruritic, scaly eruption on her palms and soles unresponsive to topical steroids for 1 month.

Rare Case of Recurrent Adamantinoma of the Tibia: Limited Efficacy of Pazopanib as a Standalone Treatment.

BACKGROUND Adamantinoma is a rare low-grade malignant bone tumor, usually found in the tibial diaphysis and metaphysis, with histological similarities to mandibular ameloblastoma. The most effective treatment of recurrent adamantinoma is not yet clear. This report is of a 22-year-old woman with recurrent tibial adamantinoma treated with the tyrosine kinase inhibitor pazopanib.

Magnetic Resonance Imaging Features of Congenital Infantile Fibrosarcoma.

Background Congenital/infantile fibrosarcoma is a rare soft tissue tumor presented in early age of life. It should be considered in the differential diagnosis of the large soft tissue masses especially in the extremities at the age of infancy. These tumors frequently are misdiagnosed at birth as hemangioma.

KIAA1549-BRAF Gene Fusion Spindle Cell Sarcoma With Infantile Fibrosarcoma-Like Pattern in a Pediatric Patient: A Case Report.

Spindle cell sarcoma with fusion is a type of childhood sarcoma that closely resembles infantile fibrosarcoma by morphologic criteria and harbors molecular alteration other than the fusion gene. This neoplasm was diagnostically challenging without molecular tests, including next-generation sequencing. The discovery of translocation in this tumor contributes to the promise of the clinical implication of selecting new therapeutic options for the treatment of progressive diseases that are refractory to conventional chemotherapy.

The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report.

Genetic defects of result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia.

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16.

Aggressive gluteal fibromatosis: a rare case associated with spontaneous superior gluteal artery pseudoaneurysm.

Deep fibromatosis is a locally aggressive neoplasm commonly involving the extremities. Several authors have described imaging features and complications associated with deep fibromatosis. We present the case of a 33-year-old man who presented with a right gluteal fibrous mass identified on magnetic resonance imaging (MRI), which was associated with a pseudoaneurysm originating from the right superior gluteal artery on serial follow-up with MRI and computed tomography.

A homozygous truncating mutation of FGL2 is associated with immune dysregulation.

Background: The type II transmembrane protein fibrinogen-like protein 2 (FGL2) plays critical roles in hemostasis and immune regulation. The C-terminal immunoregulatory domain of FGL2 can be secreted and is a mediator of regulatory T (Treg) cell suppression. Fgl2 mice develop autoantibodies and glomerulonephritis and have impaired Treg cell function.

Sacral chordoma with incidental rectal adenocarcinoma: a case report.

Background: We report a unique case of synchronous sacrococcygeal chordoma in association with rectal invasive adenocarcinoma. Retrorectal tumors are a rare disease caused by a variety of pathologies. To our knowledge, no prior cases of such a coincidental finding of both cancers have been reported in the literature.

Corrigendum to "Case report of intra-articular synovial sarcoma in the hip joint" [Radiology Case Reports 15 (2020) 1256-1260].

[This corrects the article DOI: 10.1016/j.radcr.

Intra-scrotal extra-testicular schwannoma: A case report and literature review.

Intra-scrotal schwannoma is a rare neoplasm and a few reports were describing this entity in the literature and mostly difficult to be diagnosed pre operatively(1) We recently treated a case of intra-scrotal extra-testicular schwannoma which was discovered in a patient with history of painless scrotal lesion for 5 years. paratesticular lesion excision was done which was result as schwannoma tissue. follow up with US scrotum was unremarkable for the patient.

The degree of sclerosis is associated with prognosis in well-differentiated liposarcoma of the retroperitoneum.

Background And Objectives: Well-differentiated liposarcomas (WDL) are often partly composed of sclerotic tissue, however, the amount varies widely between tumors, and its prognostic significance is unknown. We hypothesized that tumors with more sclerosis would behave more aggressively.

Methods: Primary retroperitoneal WDL from 29 patients resected at our institution with follow-up were histologically evaluated by soft tissue pathologists blinded to outcome.

Traumatic Neuroma With Melanoma Perineural Invasion.

Traumatic neuroma is a reactive non-neoplastic neural proliferation that results from trauma. Although such type of lesions found surgical scars due to different reasons, its involvement by residual or recurrent malignancies is rarely reported. In this article, we describe an unusual case of traumatic neuroma with perineural invasion by invasive melanoma.

Nonmelanoma skin cancer in Saudi Arabia: single center experience.

Background: Skin cancer is the most common cancer worldwide; one in every three diagnosed malignancies is a skin cancer. However, skin cancer is rarely reported in Saudi Arabia so we conducted this study to highlight these underreported neoplasms.

Objectives: Determine the prevalence and patterns of basal cell carcinoma (BCC) and primary squamous cell carcinoma (SCC), the most common types of nonmelanoma skin cancer (NMSC) with respect to age, sex, and anatomic location and to identify potentially associated risk factors.

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

Objective: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE).

Materials And Methods: This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a single tertiary hospital. Medical records were reviewed for demographic data, clinical and laboratory features, histopathology and imaging findings, and response to therapeutic intervention.

Molecular profiling of sarcomas: new vistas for precision medicine.

Sarcoma is a large and heterogeneous group of malignant mesenchymal neoplasms with significant histological overlap. Accurate diagnosis can be challenging yet important for selecting the appropriate treatment approach and prognosis. The currently torrid pace of new genomic discoveries aids our classification and diagnosis of sarcomas, understanding of pathogenesis, development of new medications, and identification of alterations that predict prognosis and response to therapy.

Acral dermatofibrosarcoma protuberans with myoid differentiation: A report of 2 cases.

Dermatofibrosarcoma protuberans (DFSP) is a low-grade mesenchymal neoplasm with a tendency for local recurrence; it is rarely metastatic. Dermatofibrosarcoma protuberans typically arises in the trunk and proximal extremities. However, it can arise in unusual sites such as the hands and feet.

Targeted therapies for sarcomas: new roles for the pathologist.

Sarcomas are a heterogeneous family of mesenchymal malignancies that employ an impressive variety of pathogenetic mechanisms. The traditional role of the pathologist in this field has been to ensure accurate diagnosis and histological grading to direct therapy. More recently, with the advent of targeted therapies directed at particular molecular alterations, the role of the pathologist has expanded and increased awareness of the genetic features of sarcomas is needed to deliver optimal multidisciplinary care.

Dermal pleomorphic liposarcoma resembling pleomorphic fibroma: report of a case and review of the literature.

Pleomorphic liposarcoma (PLPS) is a rare, high-grade sarcoma defined by the presence of pleomorphic lipoblasts. Constituting 5% of all liposarcomas, PLPS usually arises in deep soft tissues of the extremities, with rare occurrences in the dermis and subcutis. We describe a unique case of an 85-year-old Caucasian gentleman with a 1 year history of a pedunculated, pink, non-tender papule on the dorsum of his left arm, measuring 1.

Pleomorphic fibroma and dermal atypical lipomatous tumor: are they related?

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 lack distinct cytologic atypia and may represent entrapped normal periadnexal or subcutaneous adipose tissue. Nonetheless, owing to the similarity of some of the morphologic features of pleomorphic fibroma with cutaneous atypical lipomatous tumor, diagnostic confusion can ensue.

Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors.

Background: Trichilemmoma (TL) can occur as a solitary sporadic lesion usually on the face or as multiple facial lesions almost invariably associated with Cowden syndrome (CS). CS is a multisystem disorder caused by a germline inactivating mutation in PTEN (10q23.31), a tumor suppressor gene.