RESUMO
Tetrasomy 9p is a rare genetic syndrome resulting from two additional copies of the short arm of chromosome 9. Symptoms often present in the form of congenital abnormalities including cognitive disabilities, growth retardation, abnormal earlobes, congenital heart disease, and dysmorphia of the skull and face. Current literature suggests patients with tetrasomy 9p may exhibit any combination of these symptoms or, in rare instances, none at all. Although karyotyping, chromosomal microarray, and galactose-1-phosphate uridyltransferase activity analyses are the definitive diagnostic methods used, there remains a need for more robust clinical recognition in cases of mild phenotypic expression. Herein, we present a rare case of mosaic tetrasomy 9p in a long-term survival patient with multiple and recurrent pilomatrixomas, rare benign growths more commonly found in individuals under the age of 20. To our knowledge, only two previous reports have noted concurrent tetrasomy 9p with pilomatrixomas. We are the first to identify this phenotype in an adult tetrasomy 9p patient. Dermatopathology evaluation was conducted to verify our diagnoses. Our aim is to present a unique, additional case suggesting multiple pilomatrixomas as a new defining clinical presentation of mosaic tetrasomy 9p and to review the literature underlying the genetic changes associated with this syndrome.
Assuntos
Aneuploidia , Cromossomos Humanos Par 9 , Mosaicismo , Pilomatrixoma , Neoplasias Cutâneas , Humanos , Pilomatrixoma/genética , Pilomatrixoma/patologia , Pilomatrixoma/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Cromossomos Humanos Par 9/genética , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Doenças do Cabelo/genética , Doenças do Cabelo/patologia , Doenças do Cabelo/diagnóstico , Masculino , Adulto , FemininoAssuntos
Biópsia/métodos , Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/cirurgia , Técnicas de Sutura , Estética , Extremidades/patologia , Extremidades/cirurgia , Humanos , Sistema Linfático/cirurgia , Nevo Pigmentado/patologia , Tratamentos com Preservação do Órgão/métodos , Neoplasias Cutâneas/patologia , Técnicas de Fechamento de Ferimentos , Cicatrização/fisiologiaRESUMO
Introduction. Kaposi varicelliform eruption (KVE) is a widespread cutaneous viral infection, most commonly herpes simplex virus, which affects patients with underlying dermatosis. When KVE occurs in a patient with a history of psoriasis, it is referred to as psoriasis herpeticum, a rare subtype of KVE with only a handful of cases reported in the literature. To the authors' knowledge, we report for the first time a case of psoriasis herpeticum in pregnancy. Case Presentation. A 23-year-old woman in her third pregnancy presented at 26-week gestation with a 10-year history of psoriasis. Cutaneous examination revealed diffuse psoriatic plaques with scattered ~1 cm erosions. Punch biopsy of the skin revealed herpes simplex virus (HSV) infection within a psoriatic plaque, necessitating dermatological treatment. The patient experienced premature rupture of membranes at 37-week gestation. Pelvic exam showed no evidence of herpetic lesions. After labor augmentation, the patient delivered a healthy female infant with no evidence of HSV infection. Discussion. Psoriasis herpeticum is a rare and potentially devastating complication of an underlying dermatosis. With a paucity of data available to guide pregnancy-specific issues, the general management of this condition is controversial and requires a multidisciplinary care approach. Concerns for systemic infection in the mother and vertical transmission to the neonate are of critical importance.
RESUMO
Lymphoplasmacytic plaque in children is a rare but increasingly reported clinicopathologic entity characterized by extratruncal erythematous solitary plaques, most often in children and Caucasian girls, that are thought to be a reactive or pseudolymphomatous process. We report a demonstrative case of lymphoplasmacytic plaque in a 3-year-old girl and discuss the clinical and pathologic experience with this entity.
Assuntos
Plasmocitoma/patologia , Pseudolinfoma/patologia , Neoplasias Cutâneas/patologia , Pré-Escolar , Feminino , Humanos , Pele/patologiaAssuntos
Neoplasias da Mama/patologia , Edema/diagnóstico , Neoplasias Cutâneas/secundário , Idoso , Biópsia , Neoplasias da Mama/complicações , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/terapia , Carcinoma Lobular/complicações , Carcinoma Lobular/patologia , Edema/patologia , Serviço Hospitalar de Emergência , Feminino , Humanos , Cuidados Paliativos , Tomografia por Emissão de Pósitrons , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapiaRESUMO
Vitiligo is an acquired condition resulting in patches of depigmented skin that is cosmetically disfiguring and can subsequently be psychologically disturbing. For patients seeking to mask their vitiligo, camouflage options have historically been limited and been designated as a cosmetic, rather than a medical, concern. As research has indicated that proper concealment of vitiligo lesions can vastly improve quality of life, we believe it is essential that dermatologists become aware of all the options available to their patients and that discussions of camouflage options be broached from the first visit. Methods for concealment include cosmetic tattoos, dihydroxyacetone, general cosmetics, and various topical camouflage agents, including the newest product, Microskin™. We conducted a literature review of all of the available options for vitiligo concealment and evaluated their advantages and disadvantages. Ultimately, temporary methods of concealment are recommended; but the particular agent used can come from discussion with the patient based on the location of the lesions, degree of concealment desired, cost, and availability.
Assuntos
Cosméticos/administração & dosagem , Fármacos Dermatológicos/administração & dosagem , Tatuagem , Vitiligo/diagnóstico , Vitiligo/terapia , Humanos , Tatuagem/métodosRESUMO
BACKGROUND: The use of video can enhance the learning experience by demonstrating procedural techniques that are difficult to relay in writing. Several peer-reviewed journals allow publication of videos alongside articles to complement the written text. OBJECTIVE: The purpose of this article is to instruct the dermatologic surgeon on how to create and edit a video using a smartphone, to accompany a article. METHODS: The authors describe simple tips to optimize surgical videography. The video that accompanies this article further demonstrates the techniques described. RESULTS: Creating a surgical video requires little experience or equipment and can be completed in a modest amount of time. CONCLUSION: Making and editing a video to accompany a article can be accomplished by following the simple recommendations in this article. In addition, the increased use of video in dermatologic surgery education can enhance the learning opportunity.
Assuntos
Procedimentos Cirúrgicos Dermatológicos , Manuscritos Médicos como Assunto , Smartphone , Gravação em Vídeo/métodos , Humanos , EditoraçãoRESUMO
Lymphoplasmacytic plaque in children has been proposed as a rare, emerging clinicopathologic entity characterized by solitary, extratruncal, asymptomatic papules and plaques that are typically found in healthy young Caucasian females. Biopsy of these lesions reveals a dermal lymphoplasmacytic infiltrate with or without epithelioid granulomas. Two unique patients with lymphoplasmacytic plaque in children are presented in this report, including a 26-month-old female with a lesion on her finger, who represents both the youngest described patient and the first documented with a finger lesion, as well as a 17-year-old young woman with a left thigh lesion, who represents the patient with the longest clinically and histopathologically observed lesion to date. These two additional patients corroborate the experience of lymphoplasmacytic plaque in children in the six previously reported cases and further expand the clinicopathologic spectrum of the disease. Recognition of lymphoplasmacytic plaque in children is important to facilitate distinction from potential differential considerations, including lymphoproliferative disorders and infectious conditions, particularly as the experience to date appears to suggest that lymphoplasmacytic plaque in children represent a reactive (pseudolymphomatous) condition.
Assuntos
Plasmocitoma/patologia , Pseudolinfoma/patologia , Neoplasias Cutâneas/patologia , Pele/patologia , Adolescente , Pré-Escolar , Limiar Diferencial , Feminino , HumanosRESUMO
Herpes zoster (shingles) is the result of a reactivation of the varicella zoster virus (VZV). Many adults obtain a VZV vaccine in order to prevent zoster. Non-specific injection site reactions and generalized herpes eruptions have been reported to occur, especially in immunocompromised patients. However, these are most often anatomically generalized reactions and histopathologically resemble typical herpes infections. We report a 61-year-old female on immunosuppressant medications for rheumatoid arthritis who presented with a subcutaneous nodule at the site of a recent herpes zoster vaccination. Histopathological examination revealed a dense nodular and interstitial mononuclear infiltrate throughout the mid and deep dermis with extension into the superficial subcutaneous fat. Immunohistochemical staining revealed an admixture of T-cells and B-cells, with a predominance of T-cells. These findings are consistent with a pseudolymphoma (PL), a reactive inflammatory disorder that can resemble cutaneous lymphoma and has rarely been described in herpes infections and post-herpetic scars. In situ hybridization studies for VZV were performed and highlighted occasional deep fibroblasts with nuclear positivity for VZV DNA. A review of post-vaccination reactions and herpes-related PL is discussed with emphasis on using in situ hybridization in establishing the diagnosis.