RESUMO
The consensus statement on the management of primary cutaneous melanoma that we present here was based on selection, discussion, review, and comparison of recent literature (including national and international guidelines). The protocols for the diagnosis, treatment, and follow-up used in the hospital centers throughout Catalonia and the Balearic Isles belonging to the Network of Catalan and Balearic Melanoma Centers were also considered. The main objective of this statement was to present the overall management of melanoma patients typically used in our region at the present time. As such, the statement was not designed to be an obligatory protocol for health professionals caring for this group of patients, and neither can it nor should it be used for this purpose. Professionals reading the statement should not therefore consider it binding on their practice, and in no case can this text be used to guarantee or seek responsibility for a given medical opinion. The group of dermatologists who have signed this statement was created 3 years ago with the aim of making our authorities aware of the importance of this complex tumor, which, in comparison with other types of cancer, we believe does not receive sufficient attention in Spain. In addition, the regular meetings of the group have produced interesting proposals for collaboration in various epidemiological, clinical, and basic applied research projects on the subject of malignant melanoma in our society.
Assuntos
Melanoma , Neoplasias Cutâneas , Adulto , Antineoplásicos/uso terapêutico , Biópsia , Vacinas Anticâncer/uso terapêutico , Quimioterapia Adjuvante , Terapia Combinada , Feminino , Humanos , Fatores Imunológicos/uso terapêutico , Imunoterapia , Metástase Linfática , Masculino , Melanoma/diagnóstico , Melanoma/patologia , Melanoma/secundário , Melanoma/terapia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Cuidados Paliativos , Administração dos Cuidados ao Paciente , Exame Físico , Radioterapia Adjuvante , Sistema de Registros , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapiaRESUMO
BACKGROUND: Pyoderma gangrenosum (PG) is an uncommon condition, but can lead to the diagnosis of an underlying systemic disease. It can appear spontaneously or as a result of the pathergy phenomenon after trauma or surgery. METHODS: We review three patients with postoperative PG (PPG) and the relevant literature. We also report an accurate method for microbial detection by 16S ribosomal (r)RNA sequencing. RESULTS: A 47-year-old woman and two men aged 54 and 48 years, respectively, presented with sterile ulcerations after surgery. Associated conditions (Crohn's disease and leukaemia) were present. Surgical wound infection was suspected and systemic empirical antibiotics were prescribed. After infection was excluded, PPG was diagnosed and corticosteroids were started. DISCUSSION: PPG should be considered in the differential diagnosis of postsurgical wound complications. Recognition of this condition may prevent unnecessary administration of antimicrobial treatment and development of more extensive ulcerations. It may also be the clue for the diagnosis of an underlying systemic disease. We discuss the usefulness of 16S rRNA sequencing for microbial detection and identification in order to exclude a causative infection in patients who have previously received antibiotic treatment.
Assuntos
Complicações Pós-Operatórias/diagnóstico , Pioderma Gangrenoso/diagnóstico , RNA Ribossômico 16S/genética , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/patologia , Pioderma Gangrenoso/microbiologia , Pioderma Gangrenoso/patologia , Infecção da Ferida Cirúrgica/diagnósticoRESUMO
Cutaneous lesions in the midline may be hallmarks of an occult spinal dysraphism. They rarely may occur in the cervical and thoracic regions. We report a 9-year-old girl with a cervico-thoracic lipoma associated with an underlying syringohydromyelia. Early detection of potentially complicated conditions can prevent the occurrence of irreversible neurologic damage.
Assuntos
Lipoma/etiologia , Lipoma/patologia , Neoplasias de Tecidos Moles/etiologia , Neoplasias de Tecidos Moles/patologia , Siringomielia/complicações , Siringomielia/patologia , Vértebras Cervicais , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Disrafismo Espinal/complicações , Disrafismo Espinal/patologia , Tela Subcutânea/patologia , Vértebras TorácicasAssuntos
Porocarcinoma Écrino/diagnóstico , Doenças dos Genitais Masculinos/diagnóstico , Linfedema/diagnóstico , Escroto , Neoplasias das Glândulas Sudoríparas/diagnóstico , Idoso , Diagnóstico Diferencial , Doenças dos Genitais Masculinos/patologia , Humanos , Linfedema/patologia , Masculino , Escroto/patologiaRESUMO
INTRODUCTION: Porphyria cutanea tarda (PCT) is an unfrequent disorder in patients with acquired immunodeficiency syndrome (AIDS) due to deficiency in uroporphyrinogen decarboxilase. The more frequent cutaneous manifestations are skin fragility and hypertrichosis. CASE REPORT: A 44-years-old man with AIDS presented an intense cutaneous hyperpigmentation, preferently involving sun-exposed areas. Histopathologic studies showed perivascular PAS-positive deposits. Biochemical studies confirmed the diagnosis of PCT. DISCUSSION: PCT should be included in the differential diagnosis of cutaneous hyperpigmentation in patients infected by human immunodeficiency virus (HIV).
Assuntos
Infecções por HIV/complicações , HIV-1 , Hiperpigmentação/etiologia , Porfiria Cutânea Tardia/etiologia , Adulto , Hepatite C/complicações , Humanos , Hiperpigmentação/patologia , Masculino , Transtornos de Fotossensibilidade/etiologia , Porfiria Cutânea Tardia/patologiaRESUMO
An increasing number of patients who are receiving anticoagulation or antiplatelet therapy require cutaneous surgery. Such pharmacotherapies are usually suspended based on experience in gynecologic, thoracic, and abdominal surgery. However, this practice may increase the risk of suffering a thromboembolic event. We review perioperative management of anticoagulant and antiplatelet therapy, complications associated with suspending therapy, and side effects.
Assuntos
Anticoagulantes/uso terapêutico , Inibidores da Agregação Plaquetária/uso terapêutico , Complicações Pós-Operatórias/prevenção & controle , Dermatopatias/cirurgia , Tromboembolia/prevenção & controle , Idoso , Anticoagulantes/administração & dosagem , Anticoagulantes/efeitos adversos , Perda Sanguínea Cirúrgica/prevenção & controle , Contraindicações , Toxidermias/etiologia , Feminino , Humanos , Coeficiente Internacional Normatizado , Masculino , Pessoa de Meia-Idade , Inibidores da Agregação Plaquetária/administração & dosagem , Inibidores da Agregação Plaquetária/efeitos adversos , Hemorragia Pós-Operatória/induzido quimicamente , Hemorragia Pós-Operatória/prevenção & controleRESUMO
Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by mutation of the CYP27A1 gene. It is characterized by the presence of xanthomas in different tissues, principally brain and tendon, due to the accumulation of beta-cholestanol. Diagnosis is confirmed by measurement of serum beta-cholestanol and urinary bile alcohol levels. Therapy with chenodeoxycholic acid has been shown to be the most effective treatment and can halt progression of the disease. We present 4 patients with a history of neurological disorders since childhood and who were diagnosed with CTX after developing tendon xanthomas. Although diagnostic suspicion depends to a large extent on recognition of tendon xanthomas, these are not an early sign of the disease, which can present with neurological disorders, cataracts, and chronic diarrhea. Early diagnosis of CTX therefore rests on measurement of serum beta-cholestanol levels, even in absence of tendon xanthomas.
Assuntos
Xantomatose Cerebrotendinosa/diagnóstico , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Acute postinfectious pityriasis rubra pilaris (PRP) is a variant of juvenile PRP (Griffiths type III) characterized by no family history, an acute course associated with a prior fever, and good prognosis. Clinical features may resemble other superantigen-mediated diseases, such as scarlatiniform rash or staphylococcal scalded skin syndrome, but its histology and treatment are different. We present 4 cases of acute postinfectious PRP that illustrate the clinical features of this uncommon disease and we review possible underlying pathogenic mechanisms.
Assuntos
Pitiríase Rubra Pilar/imunologia , Superantígenos , Doença Aguda , Feminino , Humanos , Lactente , Infecções/complicações , Masculino , Pitiríase Rubra Pilar/etiologiaRESUMO
BACKGROUND: Cutaneous nontuberculous mycobacterial infections result from external inoculation, spread of a deeper infection, or haematogenous spread of a disseminated infection. There are two species-specific infections (fish-tank or swimming-pool granuloma, due to Mycobacterium marinum, and Buruli ulcer, caused by M. ulcerans). Most infections, however, produce a nonspecific clinical picture. OBJECTIVES: To define clinical patterns of cutaneous disease in nontuberculous mycobacterial infections. METHODS: Fifty-one patients with cutaneous nontuberculous mycobacterial infections were reviewed. Clinical and histopathological features of normal hosts and immunosuppressed patients were compared. Two subgroups of immunosuppressed patients were distinguished: patients with cutaneous infection and patients with a disseminated infection and cutaneous involvement. RESULTS: In immunosuppressed patients the number of lesions was significantly higher. Abscesses and ulceration were also more frequently observed. Different species were found in normal hosts and immunosuppressed patients. Several clinical patterns of cutaneous infection were defined: lymphocutaneous or sporotrichoid lesions; nonlymphocutaneous lesions at the site of trauma; folliculitis and furunculosis involving the lower extremities; disseminated lesions on the extremities in immunosuppressed patients. Two patterns were observed in patients with a disseminated infection: localized cutaneous lesions and disseminated cutaneous and mucosal lesions. CONCLUSIONS: Cutaneous manifestations of nontuberculous mycobacterial infections may be classified according to criteria such as cutaneous lesions and immune status.
Assuntos
Infecções por Mycobacterium/patologia , Dermatopatias Bacterianas/patologia , Abscesso/imunologia , Abscesso/microbiologia , Abscesso/patologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Tolerância Imunológica/imunologia , Masculino , Pessoa de Meia-Idade , Infecções por Mycobacterium/imunologia , Infecções por Mycobacterium/microbiologia , Estudos Retrospectivos , Dermatopatias Bacterianas/imunologia , Dermatopatias Bacterianas/microbiologia , Úlcera Cutânea/imunologia , Úlcera Cutânea/microbiologia , Úlcera Cutânea/patologiaRESUMO
Bromoderma is a cutaneous reaction caused by the use of products containing bromide. In this report we describe a 2-month-old girl who was admitted to our institution with vegetative lesions on the face and scalp owing to the administration of a syrup containing sodium bromide.
Assuntos
Brometos/efeitos adversos , Toxidermias/etiologia , Dermatopatias Vesiculobolhosas/induzido quimicamente , Compostos de Sódio/efeitos adversos , Dor Abdominal/tratamento farmacológico , Brometos/uso terapêutico , Toxidermias/diagnóstico , Dermatoses Faciais/induzido quimicamente , Dermatoses Faciais/diagnóstico , Feminino , Seguimentos , Humanos , Lactente , Medição de Risco , Dermatoses do Couro Cabeludo/induzido quimicamente , Dermatoses do Couro Cabeludo/diagnóstico , Dermatopatias Vesiculobolhosas/diagnóstico , Compostos de Sódio/uso terapêuticoRESUMO
Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon disorder of unknown aetiology. Clinically, it is characterized by cutaneous papules or nodules on the head and neck, and extracutaneous involvement is rare. We report a 30-year-old woman who had an asymptomatic submucosal nodule on the upper lip, which histopathologically showed features of ALHE, and review the previously described 15 cases of oral ALHE.
Assuntos
Hiperplasia Angiolinfoide com Eosinofilia/patologia , Doenças Labiais/patologia , Adulto , Endotélio/patologia , Feminino , Humanos , Mucosa Bucal/patologiaRESUMO
A 15-year-old boy with Kaposi's varicelliform eruption complicating healing second degree burns is reported. Clinically, umbilicated vesicles and pustules evolving to extensive erosions appeared over previously burned areas, sparing normal skin. Rapid diagnosis was made on the basis of the presence of multinucleate giant cells in a Tzanck smear. Therapy with intravenous acyclovir was followed by complete epithelialization without scarring. Previous cases of Kaposi's varicelliform eruption in burned patients are reviewed.
Assuntos
Queimaduras/complicações , Erupção Variceliforme de Kaposi/complicações , Aciclovir/uso terapêutico , Adolescente , Antivirais/uso terapêutico , Cloxacilina/uso terapêutico , Quimioterapia Combinada , Herpesvirus Humano 1/isolamento & purificação , Humanos , Erupção Variceliforme de Kaposi/tratamento farmacológico , Masculino , Penicilinas/uso terapêuticoRESUMO
We describe an 82-year-old woman with an acute panniculitis in the left groin as the first sign of chronic renal brucellosis. She was afebrile and had a large erythematoviolaceous plaque with ulceration and liquefaction of the subcutaneous tissue. Histopathologic study showed a septal and lobular panniculitis with neutrophil infiltration, hemorrhage, and necrosis. Microbiologic cultures of a skin biopsy specimen, blood, and urine were negative. A computed tomography scan showed a left "mastic" kidney with a psoas abscess extending to the left inguinal region. The microbiologic culture of the removed renal mass and the serologic tests established the diagnosis of chronic renal brucellosis. Although the clinical picture of cold abscesses in the inguinal area classically suggests a tuberculosis, brucellosis should be included in the differential diagnosis.
Assuntos
Brucelose/diagnóstico , Nefropatias/microbiologia , Paniculite/microbiologia , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Diagnóstico Diferencial , Eritema/microbiologia , Necrose Gordurosa/patologia , Feminino , Hemorragia/patologia , Humanos , Canal Inguinal , Nefropatias/diagnóstico , Neutrófilos/patologia , Abscesso do Psoas/microbiologia , Úlcera Cutânea/microbiologiaRESUMO
Red lunulae have been observed in association with a large spectrum of cutaneous and systemic diseases. We describe a 13-year-old girl with painful red lunulae of the fingernails who subsequently developed systemic lupus erythematosus. The appearance of Beau's lines suggested inflammation of the nail matrix. Oral prednisone produced significant improvement in the nail changes. To our knowledge, red lunulae have not been previously recognized as the presenting sign of systemic lupus erythematosus.
Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Doenças da Unha/complicações , Adolescente , Feminino , Glucocorticoides/uso terapêutico , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Doenças da Unha/tratamento farmacológico , Prednisona/uso terapêuticoRESUMO
We report a boy with overlap manifestations of systemic sclerosis and dermatomyositis (sclerodermatomyositis) whose disease showed a changing clinical pattern, and who had mechanic's hands, which are a cutaneous marker of myositis. Serological studies revealed antinuclear antibodies with a homogeneous nucleolar pattern. The anti-PM-Scl antibody was demonstrated by immunoblotting. HLA typing was positive for HLA-DR3/4. After a follow-up period of 11 years, no progression to severe systemic involvement was detected, and aggressive treatment was not administered. The recognition of subsets of patients with homogeneous clinical features and serological markers should permit the recognition of separate conditions among overlap syndromes. This would have prognostic and therapeutic implications.
Assuntos
Anticorpos Antinucleares/sangue , Dermatomiosite/imunologia , Dermatoses da Mão/imunologia , Escleroderma Sistêmico/imunologia , Criança , Dermatomiosite/patologia , Seguimentos , Dermatoses da Mão/patologia , Humanos , Masculino , SíndromeRESUMO
To evaluate the histopathological features observed in patients with cutaneous infections due to nontuberculous mycobacteria (NTM) and to compare the histopathological patterns observed in immunosuppressed patients and normal hosts. Twenty-eight biopsy specimens corresponding to 27 patients with cutaneous infections due to NTM were reviewed. Eighteen biopsies corresponded to normal hosts (14 Mycobacterium marinum, 2 Mycobacterium chelonae, 1 Mycobacterium terrae and 1 Mycobacterium gordonae) and 10 biopsy specimens were obtained from 9 immunosuppressed patients (3 Mycobacterium chelonae, one of which had two biopsies, 1 Mycobacterium abscessus, 2 Mycobacterium kansasii, 1 Mycobacterium marinum, 1 Mycobacterium avium complex and 1 Mycobacterium simiae). A panel of histopathological features was evaluated by two independent observers in each biopsy specimen. Epidermal changes (acanthosis, pseudoepitheliomatous hyperplasia, exocytosis) were mainly observed in M. marinum infections. In immunosuppressed patients the infiltrate tended to be deeper, involving the subcutaneous tissue (100%) with a more diffuse distribution and constant abscess formation. A marked granulomatous inflammatory reaction was observed in 83% of immunocompetent and in 60% of immunosuppressed patients. In immunosuppressed patients a relationship between the chronic evolution of the disease and granuloma formation was demonstrated. A diffuse infiltrate of histiocytes with occasionally foamy appearance was noted in three biopsy specimens from three patients with AIDS. Acute and chronic panniculitis was detected in 8 biopsy specimens. In one biopsy (M. chelonae) an acute suppurative folliculitis was observed. Different histopathological patterns can be noted in biopsy specimens from cutaneous nontuberculous mycobacterial infections. The evolution of the disease and the immunologic status of the host may explain this spectrum of morphological changes. Tuberculoid, palisading and sarcoid-like granulomas, a diffuse infiltrate of histiocytic foamy cells, acute and chronic panniculitis, non-specific chronic inflammation, cutaneous abscesses, suppurative granulomas and necrotizing folliculitis can be detected. Suppurative granulomas are the most characteristic feature in skin biopsy specimens from cutaneous NTM infections. Some histopathological patterns seem more prevalent in immunosuppressed patients.
Assuntos
Hospedeiro Imunocomprometido , Infecções por Mycobacterium não Tuberculosas/patologia , Micobactérias não Tuberculosas/patogenicidade , Dermatopatias Bacterianas/patologia , Síndrome da Imunodeficiência Adquirida/imunologia , Adolescente , Adulto , Idoso , Epiderme/microbiologia , Epiderme/patologia , Feminino , Granuloma/imunologia , Granuloma/microbiologia , Granuloma/patologia , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Infecções por Mycobacterium não Tuberculosas/complicações , Infecções por Mycobacterium não Tuberculosas/imunologia , Micobactérias não Tuberculosas/isolamento & purificação , Paniculite/imunologia , Paniculite/microbiologia , Paniculite/patologia , Estudos Retrospectivos , Dermatopatias Bacterianas/etiologia , Dermatopatias Bacterianas/imunologiaRESUMO
El documento de consenso respecto al manejo del melanoma primario de la piel, que detallamos a continuación, nace de la puesta en común, aceptación, revisión y confrontación con la literatura reciente (incluyendo guías clínicas nacionales e internacionales), así como de los protocolos de diagnóstico, seguimiento y tratamiento consensuados en los diferentes centros hospitalarios de toda Cataluña y Balerares pertenencientes a la Xarxa de Centres de Melanoma de Catalunya i Balears. El objetivo principal de este documento es exponer de forma conjunta el manejo habitual del paciente con melanoma que actualmente se realiza en nuestro medio. Sin embargo, este documento no pretende, ni puede, por lo que tampoco debiera ser usado como un protocolo de obligado cumplimiento por los profesionales que atendemos a este grupo de enfermos. En este sentido, cabe mencionar que la consulta de este documento por parte del profesional no es vinculante para su acción, y en ningún caso este texto podrá ser utilizado para garantizar o buscar responsabilidades del juicio médico concreto. El grupo de dermatólogos que firman dicho documento se formó hace ahora tres años, con la intención de dar a conocer a nuestras autoridades la importancia de este complejo tumor, que en nuestro país creemos que se encuentra erróneamente infravalorada con respecto a otros tipo de cáncer. Además, fruto de las reuniones periódicas del grupo, han surgido también interesantes propuestas de colaboración en distintos proyectos de investigación epidemiológica, clínica y básica aplicada en torno al melanoma maligno en nuestra sociedad (AU)
The consensus statement on the management of primary cutaneous melanoma that we present here was based on selection, discussion, review, and comparison of recent literature (including national and international guidelines). The protocols for the diagnosis, treatment, and follow-up used in the hospital centers throughout Catalonia and the Balearic Isles belonging to the Network of Catalan and Balearic Melanoma Centers were also considered. The main objective of this statement was to present the overall management of melanoma patients typically used in our region at the present time. As such, the statement was not designed to be an obligatory protocol for health professionals caring for this group of patients, and neither can it nor should it be used for this purpose. Professionals reading the statement should not therefore consider it binding on their practice, and in no case can this text be used to guarantee or seek responsibility for a given medical opinion. The group of dermatologists who have signed this statement was created 3 years ago with the aim of making our authorities aware of the importance of this complex tumor, which, in comparison with other types of cancer, we believe does not receive sufficient attention in Spain. In addition, the regular meetings of the group have produced interesting proposals for collaboration in various epidemiological, clinical, and basic applied research projects on the subject of malignant melanoma in our society (AU)
Assuntos
Humanos , Masculino , Feminino , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/terapia , Melanoma/diagnóstico , Melanoma/terapia , Estadiamento de Neoplasias/métodos , Estadiamento de Neoplasias/normas , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Interferons/uso terapêutico , Estadiamento de Neoplasias/tendências , Biópsia , Excisão de Linfonodo/métodos , Excisão de Linfonodo/tendências , Quimioterapia Adjuvante , Radioterapia Adjuvante/tendênciasRESUMO
Cada vez es mayor el número de pacientes que recibe tratamiento anticoagulante o antiagregante y que debe someterse a cirugía cutánea. Interrumpir estos tratamientos para prevenir el sangrado es una práctica habitual, extrapolada de las experiencias en cirugía ginecológica, torácica y abdominal. En este contexto, la suspensión de dichos tratamientos puede incrementar el riesgo de sufrir un evento tromboembólico. Realizamos una revisión sobre el manejo peroperatorio de los tratamientos anticoagulantes y antiagregantes, de las complicaciones acontecidas tras su suspensión, así como de sus efectos secundarios (AU)
An increasing number of patients who are receiving anticoagulation or antiplatelet therapy require cutaneous surgery. Such pharmacotherapies are usually suspended based on experience in gynecologic, thoracic, and abdominal surgery. However, this practice may increase the risk of suffering a thromboembolic event. We review perioperative management of anticoagulant and antiplatelet therapy, complications associated with suspending therapy, and side effects (AU)
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Anticoagulantes/uso terapêutico , Inibidores da Agregação Plaquetária/uso terapêutico , Tromboembolia/prevenção & controle , Dermatopatias/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Anticoagulantes/administração & dosagem , Anticoagulantes/efeitos adversos , Anticoagulantes , Perda Sanguínea Cirúrgica/prevenção & controle , Toxidermias/etiologia , Inibidores da Agregação Plaquetária/administração & dosagem , Inibidores da Agregação Plaquetária/efeitos adversos , Inibidores da Agregação Plaquetária , Hemorragia Pós-Operatória/induzido quimicamente , Hemorragia Pós-Operatória/prevenção & controleRESUMO
La xantomatosis cerebrotendinosa (XCT) es una enfermedad hereditaria infrecuente causada por la mutación del gen CYP27A1. Es característica la aparición de xantomas en diferentes tejidos, principalmente en el cerebro y los tendones, secundarios al depósito de -colestanol. El diagnóstico se confirma mediante la determinación de -colestanol en suero, y de los alcoholes biliares en orina. El ácido quenodesoxicólico es la terapia más eficaz, pudiendo llegar a frenar la progresión de la enfermedad. Presentamos 4 pacientes con alteraciones neurológicas desde la infancia que fueron diagnosticados de XCT tras el desarrollo de xantomas tendinosos. El reconocimiento de los xantomas tendinosos es fundamental para orientar el diagnóstico de XCT, pero estos no son un signo inicial de la enfermedad, que debuta con alteraciones neurológicas, cataratas o diarrea crónica. Por lo tanto, el diagnóstico temprano de la XCT requiere la determinación del -colestanol sérico en estos pacientes, aun en ausencia de xantomas (AU)
Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by mutation of the CYP27A1 gene. It is characterized by the presence of xanthomas in different tissues, principally brain and tendon, due to the accumulation of -cholestanol. Diagnosis is confirmed by measurement of serum -cholestanol and urinary bile alcohol levels. Therapy with chenodeoxycholic acid has been shown to be the most effective treatment and can halt progression of the disease. We present 4 patients with a history of neurological disorders since childhood and who were diagnosed with CTX after developing tendon xanthomas. Although diagnostic suspicion depends to a large extent on recognition of tendon xanthomas, these are not an early sign of the disease, which can present with neurological disorders, cataracts, and chronic diarrhea. Early diagnosis of CTX therefore rests on measurement of serum -cholestanol levels, even in absence of tendon xanthomas (AU)