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1.
Dermatol Online J ; 30(3)2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-39090039

RESUMEN

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.


Asunto(s)
Aneuploidia , Cromosomas Humanos Par 9 , Mosaicismo , Pilomatrixoma , Neoplasias Cutáneas , Humanos , Pilomatrixoma/genética , Pilomatrixoma/patología , Pilomatrixoma/diagnóstico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico , Cromosomas Humanos Par 9/genética , Recurrencia Local de Neoplasia/genética , Recurrencia Local de Neoplasia/patología , Enfermedades del Cabello/genética , Enfermedades del Cabello/patología , Enfermedades del Cabello/diagnóstico , Masculino , Adulto , Femenino
3.
Case Rep Obstet Gynecol ; 2016: 5319425, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27840756

RESUMEN

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.

4.
Pediatr Dermatol ; 33(6): e349-e350, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27573871

RESUMEN

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.


Asunto(s)
Plasmacitoma/patología , Seudolinfoma/patología , Neoplasias Cutáneas/patología , Preescolar , Femenino , Humanos , Piel/patología
6.
Dermatol Surg ; 42(2): 249-50, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26845540

RESUMEN

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.


Asunto(s)
Procedimientos Quirúrgicos Dermatologicos , Manuscritos Médicos como Asunto , Teléfono Inteligente , Grabación en Video/métodos , Humanos , Edición
8.
J Cutan Pathol ; 40(1): 50-5, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23167476

RESUMEN

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.


Asunto(s)
Plasmacitoma/patología , Seudolinfoma/patología , Neoplasias Cutáneas/patología , Piel/patología , Adolescente , Preescolar , Umbral Diferencial , Femenino , Humanos
9.
J Cutan Pathol ; 37(10): 1098-102, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19889051

RESUMEN

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.


Asunto(s)
ADN Viral/aislamiento & purificación , Vacuna contra el Herpes Zóster/inmunología , Huésped Inmunocomprometido , Seudolinfoma/inmunología , Seudolinfoma/patología , Enfermedades de la Piel/inmunología , Artritis Reumatoide/tratamiento farmacológico , Femenino , Humanos , Inmunohistoquímica , Hibridación in Situ , Persona de Mediana Edad , Enfermedades de la Piel/patología
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