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1.
J Cutan Pathol ; 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38548658

RESUMO

Dermatofibrosarcoma protuberans (DFSP) is a cutaneous sarcoma with a high propensity for local invasion and recurrence. Although it is a rare event, the occurrence of multiple tumors in a single patient raises a diagnostic dilemma, as metastatic disease should be differentiated from multiple primary malignant events. In more than 90% of DFSP, a pathogenic t(17;22) translocation leads to the expression of COL1A1::PDGFB fusion transcripts. Karyotype analysis, fluorescence in situ hybridization, and RT-PCR can be useful ancillary studies in detecting this characteristic rearrangement, and sequencing of the fusion transcript can be used to support a clonal origin in metastatic and multifocal disease. However, previous reports have demonstrated variable sensitivity of these assays, in part due to the high sequence variability of the COL1A1::PDGFB fusion. Here, we report a patient who developed two distinct DFSP tumors over the course of 7 years. Chromosomal microarray analysis identified distinctive genomic alterations in the two tumors, supporting the occurrence of multiple primary malignant events.

2.
Surg Pathol Clin ; 17(1): 153-158, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38278604

RESUMO

Pleomorphic dermal sarcoma (PDS) is a rare cutaneous/subcutaneous neoplasm of purported mesenchymal differentiation that exists along a clinicopathologic spectrum with atypical fibroxanthoma (AFX). While PDS and AFX share histopathologic and immunohistochemical features, PDS exhibits deeper tissue invasion and has a higher rate of metastasis and local recurrence than AFX. Given its aggressive clinical course, early recognition and clinical management of PDS are essential for optimizing patient outcomes. This review aims to provide a brief overview of the clinicopathologic and molecular features, prognosis, and treatment of PDS.


Assuntos
Histiocitoma Fibroso Maligno , Sarcoma , Neoplasias Cutâneas , Humanos , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Histiocitoma Fibroso Maligno/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Prognóstico
3.
Arch Pathol Lab Med ; 2023 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-37787422

RESUMO

CONTEXT.­: Myelodysplasia cutis is an emerging concept in cutaneous neoplasia. Many of these cases were previously included under the umbrella of histiocytoid Sweet syndrome. However, with the advent of next-generation sequencing, cutaneous involvement by myelodysplastic syndrome is being increasingly recognized. OBJECTIVE.­: To review histiocytoid Sweet syndrome and myelodysplasia cutis and discuss our current understanding of these entities. Additionally, to discuss how next-generation sequencing can be applied in the evaluation of cutaneous infiltrates of immature histiocytoid cells. DATA SOURCES.­: The English-language literature from 2005 to 2023 on the topic of histiocytoid Sweet syndrome and myelodysplasia cutis was reviewed. CONCLUSIONS.­: Biopsy specimens showing infiltrates of histiocytoid, immature myeloid cells may represent cutaneous involvement by myelodysplastic syndrome. Close clinical correlation is recommended in these cases. Recent studies suggest that next-generation sequencing is useful in separating myelodysplasia cutis from true histiocytoid Sweet syndrome. This distinction has important implications for patients.

4.
J Cutan Pathol ; 50(11): 942-946, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37615213

RESUMO

Malakoplakia is a rare chronic inflammatory condition that most commonly involves the urogenital tract. Cutaneous malakoplakia is extremely rare and many patients diagnosed with skin involvement are immunosuppressed. While the clinical presentation of cutaneous malakoplakia is variable, the histopathologic features are quite distinct and include sheets of closely packed dermal histiocytes with foamy-appearing cytoplasm and Michaelis-Gutmann bodies that are positive with certain immunohistochemical stains. While the exact pathogenesis of malakoplakia is unknown, it has been associated with certain bacterial infections. Treatment generally involves a combination of surgery and antimicrobial agents and/or modulation of immunosuppressant therapy if appropriate. Herein, the authors report a unique case of cutaneous malakoplakia arising in a patient on chronic immunosuppressive therapy for the management of pyoderma gangrenosum.

5.
Arch Pathol Lab Med ; 2023 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-37327190

RESUMO

CONTEXT.­: Hypertrophic lichen planus (HLP) is a variant of lichen planus that can be difficult to diagnose based on histopathologic features alone. Thus, patient clinical history and clinicopathologic correlation are essential considerations to make the correct diagnosis. OBJECTIVE.­: To discuss the clinical and histologic presentation of HLP and provide a thorough review of commonly encountered mimickers in the differential diagnosis. DATA SOURCES.­: Data were derived from a literature review, personal clinical and research experiences, and a review of cases in the archives of a tertiary care referral center. CONCLUSIONS.­: In general, HLP involves the lower extremities and is characterized by thickened, scaly nodules and plaques that are often pruritic and chronic in nature. HLP affects both males and females and is most common in adults 50 to 75 years of age. Unlike conventional lichen planus, HLP tends to have eosinophils and classically displays a lymphocytic infiltrate most concentrated around the tips of rete ridges. The differential diagnosis for HLP is broad and encompasses numerous entities in many different categories, including premalignant and malignant neoplasms, reactive squamoproliferative tumors, benign epidermal neoplasms, connective tissue disease, autoimmune bullous disease, infection, and drug-related reactions. Therefore, a high index of suspicion must be maintained to avoid a misdiagnosis and potential inappropriate treatments.

6.
Cureus ; 15(2): e35587, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37007372

RESUMO

Adult-onset Still's disease (AOSD) is a systemic inflammatory condition characterized by recurrent fevers and a dermatologic eruption. The eruption is classically described as migratory and evanescent, composed of salmon-pink to erythematous macules, patches, and papules. However, a much rarer skin rash can also be seen in the setting of AOSD. This eruption has a different morphology, appearing as fixed, extremely pruritic papules and plaques. The histology of this atypical form of AOSD is distinct from that of the more common evanescent eruption. Management of AOSD is multi-faceted, aimed at controlling both the acute and chronic phases. Increased awareness of this more uncommon cutaneous presentation of AOSD is vital so that the appropriate diagnosis can be rendered. Herein, the authors describe an atypical presentation of AOSD in a 44-year-old male patient who presented with persistent, pruritic, brownish papules and plaques on the trunk and extremities.

7.
Hum Pathol ; 140: 53-65, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37059271

RESUMO

Cutaneous vascular tumors constitute a heterogeneous group of entities that share overlapping morphologic and immunohistochemical features, which can be diagnostically challenging for pathologists and dermatopathologists. Our understanding and knowledge of vascular neoplasms have improved over time, resulting in both a refinement of their classification by the International Society for the Study of Vascular Anomalies (ISSVA) and an improvement in the accurate diagnosis and clinical management of vascular neoplasms. This review article aims to summarize the updated clinical, histopathological, and immunohistochemical characteristics of cutaneous vascular tumors, as well as to highlight their associated genetic mutations. Such entities include infantile hemangioma, congenital hemangioma, tufted angioma, spindle cell hemangioma, epithelioid hemangioma, pyogenic granuloma, Kaposiform hemangioendothelioma, retiform hemangioendothelioma, pseudomyogenic hemangioendothelioma, Kaposi sarcoma, angiosarcoma, and epithelioid hemangioendothelioma.

8.
Pathology ; 55(2): 258-268, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36639332

RESUMO

Mesenchymal tumours with melanocytic expression can pose a diagnostic challenge because they frequently demonstrate both morphological and immunohistochemical overlap with other cutaneous melanocytic neoplasms. Therefore, they present potential pathological pitfalls that may lead to a misdiagnosis of malignant melanoma. Mesenchymal neoplasms that closely mimic melanoma include malignant melanotic nerve sheath tumour (melanotic schwannoma), epithelioid schwannoma, malignant peripheral nerve sheath, cutaneous syncytial myoepithelioma, clear cell sarcoma of soft tissue, and perivascular epithelioid cell tumour. Awareness of these melanoma mimics is necessary for establishing the correct diagnosis so that the appropriate clinical management can be rendered to the patient. This in-depth review highlights key diagnostic features and molecular genetics and also discusses the differential diagnosis and treatment of mesenchymal tumours that exhibit melanocytic expression.


Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Diagnóstico Diferencial , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Melanócitos/patologia
9.
Pediatr Dermatol ; 40(3): 544-546, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36519423

RESUMO

Delusions of parasitosis by proxy is an uncommon entity wherein an individual projects a delusional belief onto another person who lacks capacity to hold the same belief. We report a case of delusions of parasitosis by proxy in a mother who believed that she was infested with scabies and projected her fixed, delusional belief of scabies infestation onto her children. She subjected her children to numerous home remedies and medical treatments as well as removing them from school in an effort to cure them of the supposed infestation. Child maltreatment can be a concern in such cases with a low threshold for involving child protective services if harm to the children is suspected.


Assuntos
Maus-Tratos Infantis , Escabiose , Feminino , Humanos , Criança , Mães , Delusões/etiologia , Escabiose/diagnóstico , Escabiose/tratamento farmacológico
10.
Cureus ; 14(10): e30611, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36426327

RESUMO

Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a rare benign skin lesion that typically presents at birth, or within the first several years of life, as single or multiple asymptomatic skin-colored papules or nodules on the plantar heels. We present a classic case of PCFH in a 3-year-old child. This uncommon entity has no reported malignant features or malignant transformations. We demonstrate how this diagnosis can be made clinically without subjecting pediatric patients to potentially painful, traumatizing, costly skin biopsies and unnecessary imaging.

11.
Cureus ; 14(10): e30094, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36381729

RESUMO

Nevus sebaceus (NS) and scalp whorl are both benign congenital findings that have not previously been reported to occur simultaneously. In most cases, the isolated finding of a single, classic-appearing NS or a single hair whorl can be followed clinically with observation. However, the number of lesions, distribution, and size of NS along with atypical placement of a scalp hair whorl can indicate an underlying syndrome or even underlying cranial abnormalities. We present a unique case of NS arising within a hair whorl on the vertex scalp of an otherwise healthy male neonate. After ultrasound showed no vascular malformations or proliferations and no cranial extension at the site, the lesion was later treated with surgical excision at six months old per the parents' preference, thus allowing for histologic confirmation of NS. Additionally, we discuss herein the diagnostic implications, recommendations for work-up, and treatment options of NS.

12.
Dermatol Online J ; 27(1)2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-33560792

RESUMO

Chondrodermatitis nodularis helicis is a benign condition that presents as a painful ear nodule and is commonly seen in older adults. Herein, we highlight a pediatric case of chondrodermatitis nodularis helicis caused by an increasingly common age-related behavior of frequent headphone use.


Assuntos
Comportamento do Adolescente , Doenças das Cartilagens/etiologia , Dermatite/etiologia , Orelha Externa , Jogos de Vídeo , Adolescente , Doenças das Cartilagens/cirurgia , Crioterapia , Dermatite/cirurgia , Humanos , Masculino , Pressão/efeitos adversos
14.
Pediatr Dermatol ; 35(3): e178-e179, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29573447

RESUMO

Hypertrichosis is a condition in which hair is longer and denser than what is considered normal for an individual based on age, sex, ethnicity, and location on the body and can be classified based on its distribution (generalized vs localized), age of onset (congenital vs acquired), and type of hair (lanugo or vellus vs terminal). We describe a rare case of monozygotic female twins who presented for localized hypertrichosis of the intermammary cleft that developed during puberty. Endocrine examination was unremarkable. Discussion of various treatment modalities should be considered, because localized hypertrichosis may have a considerable psychosocial effect.


Assuntos
Remoção de Cabelo/métodos , Hipertricose/etiologia , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Hipertricose/terapia , Parede Torácica , Gêmeos Monozigóticos
15.
Antimicrob Agents Chemother ; 60(11): 6518-6531, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27550363

RESUMO

Despite current prophylactic strategies, sexually transmitted infections (STIs) remain significant contributors to global health challenges, spurring the development of new multipurpose delivery technologies to protect individuals from and treat virus infections. However, there are few methods currently available to prevent and no method to date that cures human immunodeficiency virus (HIV) infection or combinations of STIs. While current oral and topical preexposure prophylaxes have protected against HIV infection, they have primarily relied on antiretrovirals (ARVs) to inhibit infection. Yet continued challenges with ARVs include user adherence to daily treatment regimens and the potential toxicity and antiviral resistance associated with chronic use. The integration of new biological agents may avert some of these adverse effects while also providing new mechanisms to prevent infection. Of the biologic-based antivirals, griffithsin (GRFT) has demonstrated potent inhibition of HIV-1 (and a multitude of other viruses) by adhering to and inactivating HIV-1 immediately upon contact. In parallel with the development of GRFT, electrospun fibers (EFs) have emerged as a promising platform for the delivery of agents active against HIV infection. In the study described here, our goal was to extend the mechanistic diversity of active agents and electrospun fibers by incorporating the biologic GRFT on the EF surface rather than within the EFs to inactivate HIV prior to cellular entry. We fabricated and characterized GRFT-modified EFs (GRFT-EFs) with different surface modification densities of GRFT and demonstrated their safety and efficacy against HIV-1 infection in vitro We believe that EFs are a unique platform that may be enhanced by incorporation of additional antiviral agents to prevent STIs via multiple mechanisms.


Assuntos
Proteínas de Algas/farmacologia , Antivirais/farmacologia , Sistemas de Liberação de Medicamentos/métodos , HIV-1/efeitos dos fármacos , Ácido Láctico/química , Lectinas de Plantas/farmacologia , Ácido Poliglicólico/química , Ligação Viral/efeitos dos fármacos , Proteínas de Algas/química , Antivirais/química , Linhagem Celular Transformada , Colo do Útero/citologia , Técnicas Eletroquímicas , Células Epiteliais/citologia , Células Epiteliais/efeitos dos fármacos , Feminino , Expressão Gênica , Genes Reporter , Células HeLa , Humanos , Luciferases/genética , Luciferases/metabolismo , Microscopia Eletrônica de Varredura , Lectinas de Plantas/química , Copolímero de Ácido Poliláctico e Ácido Poliglicólico , Vagina/citologia , beta-Galactosidase/genética , beta-Galactosidase/metabolismo
16.
Biochem Mol Biol Educ ; 42(2): 136-41, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24375847

RESUMO

This report describes how a science communication module was incorporated into an advanced biochemistry course. Elements of communication were taught synergistically with biochemistry content in this course in an effort to expose students to a variety of effective oral communication strategies. Students were trained to use these established techniques and incorporated them into various presentations throughout the course. Three students describe their use of specific resources and how the skills learned relate to their future career. The importance and relevance of science communication are receiving unprecedented national attention. The academic scientific community must respond by incorporating more communication-centered instruction and opportunities in the classroom and laboratory.


Assuntos
Bioquímica/educação , Comunicação , Educação de Graduação em Medicina , Currículo , Humanos , Ciência/educação , Estudantes de Medicina
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