RESUMO
Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in follicular proliferation mutual in the pathogenesis of both conditions. Here we present 5 patients with both hidradenitis suppurativa and steatocystoma multiplex. Recognizing the overlap between these 2 conditions is important for accurate diagnosis, management, and identification of potential surgical candidates, as well as future basic science research.
Assuntos
Hidradenite Supurativa/complicações , Esteatocistoma Múltiplo/complicações , Adulto , Diagnóstico Diferencial , Feminino , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/terapia , Humanos , Masculino , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/terapiaAssuntos
Calcinose/diagnóstico , Doenças dos Genitais Masculinos/diagnóstico , Escroto/patologia , Esteatocistoma Múltiplo/diagnóstico , Adulto , Calcinose/patologia , Calcinose/cirurgia , Erros de Diagnóstico , Doenças dos Genitais Masculinos/patologia , Doenças dos Genitais Masculinos/cirurgia , Humanos , Masculino , Escroto/cirurgia , Pele/patologia , Esteatocistoma Múltiplo/patologia , Resultado do TratamentoRESUMO
OBJECTIVE: To provide family physicians with the information needed to recognize, diagnose, and discuss available treatment options for steatocystoma multiplex (SM). SOURCES OF INFORMATION: A comprehensive PubMed search using steatocystoma multiplex as either a text word or a MeSH term was conducted, and articles reporting on treatment outcomes were included. MAIN MESSAGE: Steatocystoma multiplex is a benign disorder often characterized by numerous asymptomatic dermal cysts on the trunk, arms, axillae, face, thighs, and scalp. Psychological distress due to these undesirable lesions is not uncommon for this condition. A literature review identified the following SM treatments, all of which were associated with limitations: carbon dioxide laser, modified surgical techniques, cryotherapy, and medical management. Steatocystoma multiplex is challenging to treat and, at this time, effective management is most often achieved through patient education. CONCLUSION: Family physicians play a critical role in the early diagnosis and management of SM. Education about treatment options and managing patient expectations might greatly alleviate the psychosocial implications of this disease.
Assuntos
Cisto Epidérmico/patologia , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/terapia , Gerenciamento Clínico , Diagnóstico Precoce , Feminino , Humanos , Médicos de Família , Adulto JovemRESUMO
An association between steatocystoma multiplex (SCM) and eruptive vellus hair cysts (EVHCs) has been recognized. Steatocystoma multiplex and EVHC have similar clinical features but distinctive histologic features. Rare cases of co-occurrence of these conditions have been known to occur on the trunk and the forehead. We report a rare case of the simultaneous occurrence of SCM, EVHC, and trichofolliculomas localized to the forehead.
Assuntos
Cisto Epidérmico/diagnóstico , Cisto Folicular/diagnóstico , Neoplasia de Células Basais/diagnóstico , Neoplasias Cutâneas/diagnóstico , Esteatocistoma Múltiplo/diagnóstico , Adulto , Diagnóstico Diferencial , Cisto Epidérmico/complicações , Cisto Epidérmico/patologia , Cisto Folicular/complicações , Cisto Folicular/patologia , Testa , Humanos , Masculino , Neoplasia de Células Basais/complicações , Neoplasia de Células Basais/patologia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologia , Esteatocistoma Múltiplo/complicações , Esteatocistoma Múltiplo/patologiaRESUMO
Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skincolored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a fourgeneration Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree was also performed to investigate the KRT17 gene mutation and genotypephenotype correlation. Exon 1 of the KRTl7 gene was amplified using polymerase chain reaction (PCR) from genomic DNA obtained, which was obtained from 25 family members in the selected Chinese pedigree and from 100 unrelated control individuals. The DNA was then subjected to automatic DNA sequencing. Genealogical investigations demonstrated an autosomal dominant pattern, and direct sequencing of the PCR product revealed a heterozygous mutation, c.280C/T (R94C), which was located in exon 1 of the KRT17 gene in all 10 affected family members. The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals. Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance. A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.
Assuntos
Éxons , Queratina-17/genética , Mutação Puntual , Esteatocistoma Múltiplo/genética , Adulto , Povo Asiático , Sequência de Bases , Estudos de Casos e Controles , Feminino , Expressão Gênica , Genes Dominantes , Heterozigoto , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/etnologia , Esteatocistoma Múltiplo/patologiaAssuntos
Queratina-17/metabolismo , Queratinócitos/metabolismo , Mutação , Rim Policístico Autossômico Dominante/genética , Esteatocistoma Múltiplo/genética , Canais de Cátion TRPP/genética , Linhagem Celular , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Queratina-17/genética , Pessoa de Meia-Idade , Fenótipo , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/metabolismo , Polimerização , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/metabolismo , TransfecçãoRESUMO
BACKGROUND: Steatocystoma multiplex (SM) is a rare condition that presents as multiple dermal cysts, the appearance of which can have a significant impact on the patients' quality of life. Treatment options for SM are limited to surgical excision. OBJECTIVE: To present our experience of treating 8 SM cases using a novel approach that uses the carbon dioxide (CO2) laser and to explore patients' views about the treatment. METHODS: Patients were identified from our records. All patients had multiple lesions treated using the CO2 laser in the super pulse mode that punctured the cyst. This was followed by extirpating the cyst wall and its contents using a small Volkmann's spoon. Treatment efficacy was assessed clinically and feedback from the patients was sought through a telephone interview. RESULTS: All patients showed significant clinical improvement with minimal scarring and low recurrence rates. High levels of patient satisfaction, which helped to significantly improve their quality of life, were reported with the CO2 laser treatment. CONCLUSION: CO2 laser perforation and extirpation is a successful approach for managing SM that results in high patient satisfaction.
Assuntos
Lasers de Gás/uso terapêutico , Esteatocistoma Múltiplo/terapia , Adulto , Axila/patologia , Dorso/patologia , Face/patologia , Feminino , Seguimentos , Hospitais Universitários , Humanos , Masculino , Satisfação do Paciente , Qualidade de Vida , Estudos Retrospectivos , Esteatocistoma Múltiplo/diagnóstico , Inquéritos e Questionários , Coxa da Perna/patologia , Tórax/patologia , Resultado do TratamentoAssuntos
Alopecia/complicações , Dermatoses do Couro Cabeludo/complicações , Esteatocistoma Múltiplo/complicações , Adulto , Alopecia/congênito , Diagnóstico Diferencial , Cisto Epidérmico/diagnóstico , Feminino , Humanos , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/patologia , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/patologia , Esteatocistoma Múltiplo/cirurgiaRESUMO
Our patient is a 29-year-old woman without any previous disease who presented with different kinds of lesions on her face, neck, and chest. She first noticed the lesions 10 years ago and, since that time, they have become more numerous. She has no affected relatives. On physical examination, she had multiple cystic lesions on her neck, chest, and vulva, which were between 0.3 cm and 1 cm and skin-colored or yellowish (Figure 1). She presented with small, white papules on her face measuring approximately 0.2 cm, localized on her forehead and cheeks. Some of these papules had a blueish appearance (Figure 2). She also presented clinically typical eruptive syringomas on her upper and lower eyelids and neck and multiple facial milia. Finally, a sacrococcygeal pilonidal cyst was diagnosed and surgically removed. Her nails and teeth were clinically normal. Biopsies of each kind of lesion were performed, with the following results: (1) neck cystic lesion: steatocystoma; (2) small, white facial papule: eccrine hidrocystoma; (3) blueish facial papule: apocrine hidrocystoma; and (4) small neck papule: syringoma (Figure 3). With these findings, our diagnosis was steatocystoma multiplex with multiple eccrine and apocrine hidrocystomas, eruptive syringomas, and sacrococcygeal pilonidal cyst.
Assuntos
Hidrocistoma/diagnóstico , Queratina-17/genética , Esteatocistoma Múltiplo/diagnóstico , Siringoma/diagnóstico , Adulto , Biópsia , Feminino , Hidrocistoma/genética , Hidrocistoma/patologia , Humanos , Seio Pilonidal/diagnóstico , Seio Pilonidal/genética , Seio Pilonidal/patologia , Região Sacrococcígea , Esteatocistoma Múltiplo/genética , Esteatocistoma Múltiplo/patologia , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/patologia , Siringoma/genética , Siringoma/patologiaRESUMO
Steatocystoma multiplex (SM) is an uncommon cutaneous disorder characterised by multiple intradermal cysts distributed over the trunk and proximal extremities. This condition affects both genders and is often inherited as an autosomal dominant trait, although sporadic cases have been described. This report describes the mammographic and sonographic features of the cysts, which presented as breast lumps, for evaluation. The cysts appeared as numerous well-circumscribed, radiolucent nodules with thin radiodense rims on mammography. On sonography, the cysts could be hypoechoic, isoechoic or demonstrate mixed echoes containing debris-fluid levels, depending on the amount of clear oily liquid and keratinous material. SM can be diagnosed based on a clinical setting of multiple asymptomatic small intradermal nodules over the trunk and proximal extremities, positive family history and imaging findings.
Assuntos
Doenças Mamárias/diagnóstico , Mamografia/métodos , Esteatocistoma Múltiplo/diagnóstico , Ultrassonografia Mamária/métodos , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Extensive large sebaceous cysts on the scotum are rare and present a problem only when infected or when cosmesis is deemed unacceptable by the patient. Fournier's gangrene is an infective condition with a high death rate. We describe a case of Fournier's gangrene in a patient masked by multiple large infected scrotal sebaceous cysts. A 32-year-old man with a history of alcohol dependency, cirrhosis and multiple scrotal sebaceous cysts presented with acute scrotal pain and erythema. Necrosis of the area became evident within 12 h of his admission and an emergency surgical debridement was performed. The wound was left open to heal via secondary intention over 4 weeks without complication. Fournier's gangrene is a rapidly progressive condition and early surgical debridement is crucial to achieve satisfactory outcomes. In this case, prompt intervention allowed a large scrotal defect to heal without the need for skin grafting.
Assuntos
Gangrena de Fournier/complicações , Doenças dos Genitais Masculinos/etiologia , Escroto , Esteatocistoma Múltiplo/etiologia , Adulto , Diagnóstico Diferencial , Gangrena de Fournier/diagnóstico , Doenças dos Genitais Masculinos/diagnóstico , Humanos , Masculino , Esteatocistoma Múltiplo/diagnósticoAssuntos
Cisto Epidérmico/patologia , Queratina-17/genética , Mutação de Sentido Incorreto , Esteatocistoma Múltiplo/genética , Análise Mutacional de DNA , Éxons/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Esteatocistoma Múltiplo/diagnósticoAssuntos
Dermatopatias/diagnóstico , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Carcinoma Basocelular/terapia , Cistos Glanglionares/diagnóstico , Cistos Glanglionares/patologia , Cistos Glanglionares/terapia , Tumor Glômico/diagnóstico , Tumor Glômico/patologia , Tumor Glômico/terapia , Granuloma Piogênico/diagnóstico , Granuloma Piogênico/patologia , Granuloma Piogênico/terapia , Humanos , Dermatopatias/patologia , Dermatopatias/terapia , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/patologia , Esteatocistoma Múltiplo/terapiaRESUMO
A 40-year-old man presented with multiple papules on his head and neck. The lesions had been present for about 15 years. The patient was treated for acne for 6 months, but no improvement was noted. A biopsy was performed and microscopic findings were consistent with steatocystoma multiplex.