Mosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle.

ABSTRACT: Lynch syndrome is an inherited condition, which increases the risk of numerous visceral malignancies and cutaneous tumors such as keratoacanthomas and sebaceous tumors. It is typically identified by immunohistochemistry of tissue taken from tumors or through genetic testing with next-generation sequencing. Diagnosing Lynch syndrome becomes more complex when the individual is mosaic for the relevant pathogenic variant. There are very few cases of this reported in the medical literature. It is even more unusual for the diagnosis to be made based on testing of a keratoacanthoma lesion. We report a case where immunohistochemistry of a keratoacanthoma helped make a diagnosis of mosaic Lynch syndrome. We will explore how mosaicism should be considered when a phenotype is strong, even if next-generation sequencing reports no pathogenic or likely pathogenic variant and how lesions such as keratoacanthomas can have a role in the early detection and treatment of future malignancies.

Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.

Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson-Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir-Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions' undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson-Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented.

A rapidly growing nodule on the face during pregnancy.

It is well known that adnexal skin tumors can simulate other cutaneous neoplasia and that various types of benign and malignant skin tumors can develop or modify during pregnancy. Here, we report a case of trichoblastoma mimicking a keratoacanthoma arising in a nevus sebaceous during pregnancy. Given its unique clinical and dermoscopic features, this case highlights the pivotal role of clinicopathological correlation in the diagnosis of adnexal tumors with an atypical clinical presentation.

Spontaneous resolution of eruptive papules following ablative laser resurfacing-Case report and review of laser-associated eruptive keratoacanthomas.

BACKGROUND: Keratoacanthomas (KAs) following laser treatment are a rare, but well-described entity. AIM: Herein, we describe a case of eruptive keratoacanthoma (KA) following laser resurfacing treatment and aim to better characterize laser-associated KAs. METHODS: A literature search was performed on PubMed reviewing laser-associated KAs including various characteristics: epidemiology, history of skin cancer, location, and number, type of laser, as well as the management and outcome. RESULTS: Fractional ablative was the most common type of laser triggering KAs, and most cases presented within the first month following treatment. The majority of cases of laser-induced KA had a prior history of a malignant or premalignant skin neoplasm. Laser-induced KAs were treated using modalities similar to KAs arising in other contexts. CONCLUSION: Clinicians need to be knowledgeable and prepared to understand, and manage complications following laser treatments, as rare as they may be, including KAs.

Surgical management of periocular squamous cell carcinoma: case report.

This report describes the case of a 72-year-old female patient admitted to the ophthalmology clinic for a large round-oval tumor with a long-standing keratotic lesion on her lower eyelid, without extending to the free margin of the eyelid. The tumor was excised with a margin in non-tumorous tissue, the nearest being 1 mm away from the tumor at the 12 o'clock position. The surgical process was complicated by the patient's treatment with the anticoagulant rivaroxaban, resulting in increased bleeding during surgery. The histopathological evaluation showed characteristics indicative of a well-differentiated squamous cell carcinoma, more specifically, the keratoacanthoma type. Consequently, it was necessary to extend the excision at the 12 o'clock position by an additional 3 mm. The procedure involved extensive removal of the impacted area and subsequent reconstruction with advancement flaps, supported by histological examination to ensure total excision. In cases of squamous cell carcinoma on the eyelid, multiple sequential excisions are often required to ensure complete removal within safe histological margins, achieving desirable functional and esthetic results.

Keratoacanthoma and Cutaneous Squamous Cell Carcinoma With PD-1 and PD-L1 Inhibitor Use.

This cross-sectional study assesses risk of dermatological immune-related adverse events associated with immunotherapy for cancer.

Queratoacantoma de vulva: presentación de un caso / Vulvar keratoacanthoma: presentation of a case

El queratoacantoma de vulva es una entidad rara que podría presentar confusión en su diagnóstico con el carcinoma bien diferenciado de células escamosas. Presentamos un caso de una paciente con diagnóstico de queratoacantoma de vulva tratada con resección quirúrgica de la lesión y su seguimiento posterior.

Vulvar keratoacanthoma is a rare disease that may present confusion in diagnosis with well differentiated squamous cell carcinoma. We report one patient with vulvar keratoacanthoma, treated by resection surgery of the lesion and her outcome.

Queratoacantoma / Keratoacanthoma

El queratoacantoma es un tumor epitelial con origen presuntivo del infundíbulo folicular. La etiología es multifactorial, siendo la exposición solar la causa de aparición clásica; se presenta con mayor frecuencia en adultos mayores. Caso clínico: Paciente femenina 83 años, dedicada al hogar, viuda, escolaridad primaria completa, originaria de Tegucigalpa, Municipio del Distrito Central. Presentó dermatosis localizada en mano derecha, que inició como pápula/nódulo eritematoso de un mes de evolución en dorso de mano la cual se convirtió en tumoración de 3cm de diámetro, con una superficie anfractuosa secundaria a un tapón de queratina; era una neoformación no fija a planos profundos, asintomática; lesión única, se encontró datos de fotodaño en el resto de la piel. En la primera evaluación se planteó un diagnóstico presuntivo de carcinoma espinocelular versus queratoacantoma. La lesión se extirpó en su totalidad hasta tejido adiposo subyacente. La pieza fue enviada al servicio de patología y se confirmó el diagnóstico histopatológico de queratoacantoma. Se estipuló que los bordes y el lecho del tejido extirpado se encontraban libres de tumor. Se dio seguimiento a la paciente al 1er, 3er, 6to y 12avo mes, sin recurrencias o lesiones nuevas. Conclusión: El queratoacantoma se confunde clínica e histopatológicamente con el carcinoma epidermoide. Es recomendable la intervención terapéutica para acelerar la resolución por motivos estéticos, y prevenir la incrustación en estructuras vitales secundaria a un crecimiento rápido...(AU)

Keratoacanthoma in the cutaneous area of the upper lip: a case report / Ceratoacantoma em região cutânea de lábio superior: relato de caso

PURPOSE: The aim of this paper is to briefly review and discuss the literature about KA and present a case report with a 2-year follow-up of the removal of a KA lesion in the upper lip. CASE DESCRIPTION: A 53-year-old woman complained of a painless, aesthetically unpleasant brownish, hard lesion in the cutaneous area of the upper lip. The lesion had grown rapidly in the last 30 days (size: ~10×5 mm), and was associated with a hot waxing hair removal. Surgical excision was the treatment chosen in order to differentiate the lesion from squamous cell carcinoma (SCC). An oval-shaped incision was created with an in-depth wedge shape for the removal of the lesion and better approximation of the edges after synthesis. Histopathological analysis confirmed the diagnosis of KA. After 2 years, the patient was completely satisfied with the treatment, and no scar was evident. CONCLUSION: Due to the clinical difficulty in differentiating KA from SCC and the risk for formation of an aesthetically unpleasant scar upon spontaneous resolution of KA, surgical removal might be considered the treatment of choice for a solitary KA.

OBJETIVO: O objetivo deste trabalho é revisar e discutir brevemente a literatura sobre CA e apresentar o relato de um caso da remoção de CA em lábio superior com 2 anos de acompanhamento. DESCRIÇÃO DO CASO: Mulher com 53 anos queixava-se de lesão indolor, esteticamente desagradável, dura e de coloração marrom na área cutânea do lábio superior. A lesão havia crescido rapidamente nos últimos 30 dias (tamanho: ~10×5 mm), e estava associada à remoção de pêlos com cera quente. Excisão cirúrgica foi o tratamento escolhido para diferenciar a lesão de carcinoma espinocelular (CEC). Uma incisão em forma oval aprofundada em forma de cunha foi realizada para remoção da lesão e melhor aproximação das bordas após a síntese. A análise histopatológica confirmou o diagnóstico de CA. Após 2 anos, a paciente estava completamente satisfeita com o tratamento, e nenhuma cicatriz era evidente. CONCLUSÃO: Devido à dificuldade na diferenciação clínica entre CA e CEC, e o risco de formação de cicatriz esteticamente desagradável quando da resolução espontânea do CA, a remoção cirúrgica pode ser considerada o tratamento de escolha para CA solitário.

Queratoacantomas múltiples: un reto diagnóstico y terapéutico / Multiple keratoacanthoma: a diagnostic and therapeutic challenge

El queratoacantoma (QA) es una neoplasia cutánea que por lo usual remite espontáneamente. Muchos queratoacantomas son solitarios pero también se conocen las formas múltiples: del tipo Ferguson Smith, QA eruptivos, QA múltiples persistentes, QA en el síndrome de Muir-Torre y QA centrifugum marginatum, entre otros. Se reporta el caso de una estudiante mujer de 20 años, sin antecedentes patológicos de importancia, que presentó lesiones nodulares de base eritematosa y centro costroso en ambas piernas, de tres meses de evolución. Dada la clínica e histopatología compatible se realizó el diagnóstico de queratoacantomas múltiples recibiendo diferentes tratamientos sin éxito, para finalmente responder a acitretin en una dosis de 0.5mg/kg/día, con involución de las lesiones después de cuatro semanas.

Keratoacanthoma (KA) is a cutaneous neoplasm that usually heals spontaneously. Most KA lesions are unique, but there can also occur as multiple lesions: Ferguson Smith type KA, eruptive KA, multiple persistent KA, KA in Muir-Torre syndrome, and KA centrifugum marginatum, among others. We report the case of a 20 year-old female student, with no significant previous medical history, who presented nodular lesions with erythematous base and crusted center in both legs, for the past three months. Given both the clinical and histological evidence, a diagnosis of multiple keratoacanthomas was made. The patient received different treatments without success until acitretin was administered at a dose of 0.5mg/kg/day, with involution of lesions after four weeks.

Keratoacanthoma of the lower lip: still a matter of diagnosis / Ceratoacancoma do lábio inferior: ainda um problema de diagnóstico

Introduction: Keratoacanthoma is a lesion that may mimic squamous cells carcinoma clinically and histologically and the distinction between both lesions has been a matter of discussion. Typical lesions consist of a firm dome-shaped nodule, 1 to 2 centimeters in diameter, with a horn-filled crater in its center. Objectives: To present it was selected an atypical case of a 43-year-old woman who had a solitary keratoacanthoma (KA) of the lower lip with a history of two years of evolution and mistreatment and to discuss the difficulties of the diagnosis process. Conclusion: Because of the rarity of the lesion and its similarity with squamous cells carcinoma the general dentist must explain to the patient that the clinical aspects are not conclusive of the diagnosis and a correct acquisition of the surgical specimen is crucial to an accurate histopathological interpretation and conclusive diagnosis.

Introdução: O ceratoacantoma é uma lesão que pode mimetizar clínica e histologicamente o carcinoma espinocelular, sendo discutível a distinção entre as duas lesões. As lesões típicas consistem em um nódulo firme, em forma de cúpula, com 1 a 2 centímetros de diâmetro e uma cratera central preenchida com queratina. Objetivo: Apresentar um caso atípico de uma mulher de 43 anos que apresentava uma lesão solitária de queratoacantoma no lábio inferior, com uma história de dois anos de evolução e erros de tratamento e discutir a dificuldade no processo de diagnóstico. Conclusão: Devido à raridade da lesão e sua semelhança com o carcinoma, o clínico geral deve explicar ao paciente que os aspectos clínicos não são conclusivos do diagnóstico e que a aquisição correta do espécime cirúrgico são cruciais para a análise histopatológica correta e para o diagnóstico conclusivo.

Queratoacantoma centrifugum marginatum: reporte de caso / Keratoacanthoma centrifugum marginatum: a case report

El queratoacantoma centrifugum marginatum es una rara variante de queratoacantoma caracterizado por la presencia de un crecimiento periférico progresivo de la lesión con la concomitante curación del área central del tumor. Se presenta el caso de una paciente mujer de 69 años de edad con un tiempo de enfermedad de tres anos, cuya lesión fue compatible clínica e histológicamente con un queratoacantoma centrifugum marginatum.

Keratoacanthoma centrifugum marginatum is a rare variant of keratoacanthoma, characterized by the presence of a progressive peripheral growth of the lesion with concomitant healing of the central area of the tumor. We report the case of a 69 year old female patient with a lesion for the past three years, which was clinical and histological consistent with a keratoacanthoma centrifugum marginatum

Ceratoacantoma: revisão da literatura / Keratoacanthoma: literature revision

O ceratoacantoma é uma neoplasia benigna de crescimento rápido, podendo sofrer regressão espontânea sem qualquer tipo de tratamento. Acomete principalmente pacientes idosos em locais do corpo que sofreram exposião crônica à luz solar, como a face o os membros superiores. Clinicamente se caracteriza por um nódulo crateriforme, com uma depressão central preenchida por ceratina. Histologicamente apresenta hiperceratose e acantose, onde as células epiteliais apresentam características que se assemelham ao carcinoma espinocelular, como atipia celular, mitoses atípicas, disceratose e formação de pérolas de ceratina. O diagnóstico de ceratoacantoma é baseado mais na arquitetura do que nas características celulares. O tratamento preconizado é a remoção cirúrgica. Devido à semelhança entre o ceratoacantoma e o carcinoma espinocelular, uma discussão a respeito de métodos de diagnóstico e a real distinção entre essas duas entidades tem sido realizada.

The keratoacanthoma is a common tumor of the skin that displays rapid growth and usually involutes spontaneously. Clinically is characterized by a crateriform nodule with a central keratinous core that often appears on sun-exposed regions of white person of middle age or older. The histopathological findings are hyperkeratosis, acanthosis, and this epidermal strands may be carcinoma-like, containing atypical-appearing squamous cells with multiple mitotic figures, dyskeratosis, marked pleomorphism or anaplasia. In short, the diagnosis of keratoacanthoma is based on its architecture rather than its cytological features. The treatment of choise for keratoacanthoma is the complete conservative excision. The distinction between squamous cell carcinoma and keratoacanthoma has been a matter of discussion, and a lot of techniques have been used to try to find a differential diagnosis between these two lesions.

Incidência das lesöes da pálpebra no Departamento de Anatomia Patológica da Escola Paulista de Medicina, com ênfase para queratoacantoma e queratose actínica / Incidence of eyelid lesions in Departamento de Anatomia Patológica da Escola Paulista de Medicina, with emphasis to keratoacanthoma and actinic keratosis

Foram analisados 612 casos de lesäo da pálpebra, com diagnóstico anatomopatológico, de um total de 1807 casos de lesöes oculares, examinados no Departamento de Anatomia Patológica da Escola Paulista de Medicina, referente ao período de janeiro a junho de 1986. As lesöes foram divididas nos seguintes grupos: Neoplasias benignas - 40%; Neoplasias malignas - 30,7%; Pseudoneoplasias - 29,3%. Há especial ênfase para o queratoacantoma (2,8% das lesöes benignas) e a queratose actínia (6,9%) justifica-se por ser a primeira lesäo de difícil diferenciaçäo clínica e anatomopatológica com o carcinoma espinocelular e a segunda lesäo pré-maligna que sofre com freqüência transformaçäo carcinomatosa. Para escolha da melhor terapêutica o diagnóstico clínico e anatompatológico rápido é prudente e correto

Queratoacantoma de pálpebra: estudo crítico do seu diagnóstico / Palpebral keratoacanthoma: critical study about its diagnosis

O queratoacantoma é uma lesäo benigna auto-resolutiva que se assemelha clínica e histologicamente ao carcinoma espino-celular. Foram revistas 42 lesöes de pápebra provenientes do registro Brasileiro de Patologia Ocular - Escola Paulista de Medicina, dos quais 30 (71,4%) eram carcinomas espino-celulares e 12 (28,6%) correspondiam a queratocantomas. As lesöes foram analisadas quanto a sexo, idade, raça e comparadas com o diagnóstico clínico. Os resultados mostraram imprecisäo do diagnóstico clínico, o que leva as lesöes neoplásicas de pálpebra, principalmente no caso do queratoacantoma, necessitarem de uma incisäo ampla pois podem se tratar de lesöes malignas