RESUMEN
Neurocristic cutaneous hamartomas (NCHs) are rarely reported tumors with divergent differentiation derived from persistently active pluripotent cells from the neural crest. They result from aberrant development of the neuromesenchyme, and they can express fibrogenic, melanocytic, and/or neurosustentacular differentiation. Thus, congenital melanocytic nevus also represents a neurocristic dysplasia of the skin in which cells are melanogenic cells arrested in development located in the reticular dermis, and nodular proliferative neurocristic hamartoma may arise within a congenital melanocytic nevus. The real importance of NCHs is that, although few cases have been reported in the literature, some cases have shown development of melanoma. Moreover, the only previously reported case of a similar "proliferative neurocristic nodule" analyzed with comparative genomic hybridization showed an aberration pattern similar to melanoma. We present a rare case of NCH associated with a congenital nevus in a 7-year-old boy, with classical histological and immunohistochemical features suggesting a "proliferative neurocristic hamartoma". Comparative genomic hybridization assay showed that chromosomal aberrations were absent in the congenital nevus, whereas, interestingly, the proliferative neurocristic proliferation had an aberration pattern similar to proliferative nodules with gains or losses of entire chromosomes only, similar to typical proliferative nodules and supporting the benign behavior of this lesion.
Asunto(s)
Hamartoma/patología , Nevo Pigmentado/patología , Enfermedades de la Piel/patología , Neoplasias Cutáneas/patología , Niño , Hamartoma/complicaciones , Humanos , Masculino , Nevo Pigmentado/complicaciones , Enfermedades de la Piel/complicaciones , Neoplasias Cutáneas/complicacionesRESUMEN
Congenital melanocytic nevi (CMN) are benign melanocytic proliferations that are usually present at birth. A somatic mosaicism for an NRAS point mutation is responsible for the several phenotypic abnormalities that may be associated with congenital nevi. We report the case of a 7-year-old boy with a proliferative nodule (PN) arising in a Giant CMN completely excised and with several visceral and intraspinal melanoma metastases with no evidence of primary cutaneous melanoma. The careful analysis of the clinical, morphologic, and molecular features allowed the distinction of between the benign PN (BPN) and the melanoma. The BPN showed a characteristic comparative genomic hybridization pattern with gains or losses of whole chromosomes, whereas the melanoma displayed gains or losses involving complex partial chromosomal copy number gains or losses. Leptomeningeal melanocytes are more susceptible to transformation by oncogenic NRAS than cutaneous melanocytes, and central nervous system melanomas are more common than cutaneous melanomas in the setting of CMN. Thus, it has been recommended to characterize the congenital disease in patients with 2 CMN at birth, independently of size and site, with a single magnetic resonance imaging screening younger than the age of 1 year.
Asunto(s)
GTP Fosfohidrolasas/genética , Melanoma/genética , Proteínas de la Membrana/genética , Nevo Pigmentado/genética , Neoplasias Cutáneas/genética , Niño , Humanos , Masculino , Melanoma/patología , Mutación , Metástasis de la Neoplasia/genética , Metástasis de la Neoplasia/patología , Nevo Pigmentado/patología , Neoplasias Cutáneas/patología , Melanoma Cutáneo MalignoRESUMEN
The presence of a granulomatous reaction in cutaneous lymphomas has been described in the past, especially in mycosis fungoides (MF), where a "granulomatous" variant of the disease is well known. We describe a patient with granulomatous MF (GMF) who has been followed for 13 years presenting with erythematosquamous plaques on his fingers and toes, ankles, heels, and abdomen, which on microscopic examination showed a lichenoid granulomatous reaction admixed with a neoplastic proliferation of small-sized, atypical CD4 lymphocytes. GMF is characterized by a granulomatous reaction intermingled with the dermal infiltrate of MF which may even reach the subcutaneous tissue. Only 7 cases of GMF in which the granulomas were located within the papillary or superficial dermis have been described to date. We report for the first time a unique case of lichenoid GMF where the granulomatous reaction obscures the interface between the epidermis and dermis. Sequential biopsies and complete phenotypic studies were necessary to get an accurate diagnosis.
Asunto(s)
Granuloma/patología , Erupciones Liquenoides/patología , Micosis Fungoide/patología , Neoplasias Cutáneas/patología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple keratotic and crusted papules over seborrheic areas, along with a variable involvement of oral mucosa, palmoplantar region, and nails. Segmental subtypes (type 1 and 2) are uncommon clinically limited forms of DD that usually present at middle age with few cutaneous lesions following Blaschko´s lines. We report a case of extensive multi segmental DD type 1 that developed in an elderly man, an unusual clinical onset of DD that dermatologists should bear in mind.
Asunto(s)
Enfermedad de Darier/patología , Dermatosis de la Pierna/patología , Piel/patología , Abdomen , Enfermedad de Darier/diagnóstico , Enfermedad de Darier/tratamiento farmacológico , Humanos , Queratolíticos/uso terapéutico , Dermatosis de la Pierna/diagnóstico , Dermatosis de la Pierna/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Tretinoina/uso terapéuticoRESUMEN
The growing use of anti-TNF drugs during the last years has reopened the discussion about the possible increased risk of developing non-Hodgkin lymphoma in patients with such type of treatments. We present our clinical experience and critical opinion about the current situation of such issue regarding cutaneous T-cell lymphomas.El creciente uso de fármacos anti-TNF durante los últimos años ha reabierto el debate sobre el posible aumento de riesgo de linfomas no Hodgkin en los pacientes con este tipo de tratamientos. Presentamos nuestra experiencia clínica y opinión critica sobre la situación actual de este tema en relación a los linfomas cutáneos de células T.
Asunto(s)
Artritis Reumatoide/tratamiento farmacológico , Etanercept/efectos adversos , Micosis Fungoide/inducido químicamente , Neoplasias Cutáneas/inducido químicamente , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Anciano , Humanos , Masculino , Micosis Fungoide/patología , Medición de Riesgo , Factores de Riesgo , Piel/patología , Neoplasias Cutáneas/patologíaRESUMEN
Onychoheterotopia is a rare condition characterized by ectopic nail tissue growth. It is a digital mass that is commonly misdiagnosed. We describe a 6-year-old girl who presented with onychoheterotopia after trauma to the digit. Her onychoheterotopia was incorrectly diagnosed as a common wart. It is important to include onychoheterotopia in the differential diagnosis of digital masses, especially in the setting of previous traumatic injury.
Asunto(s)
Coristoma/diagnóstico , Traumatismos de los Dedos/complicaciones , Enfermedades de la Uña/diagnóstico , Uñas Malformadas/diagnóstico , Verrugas/diagnóstico , Niño , Coristoma/etiología , Coristoma/cirugía , Diagnóstico Diferencial , Femenino , Traumatismos de los Dedos/diagnóstico , Estudios de Seguimiento , Humanos , Enfermedades de la Uña/etiología , Enfermedades de la Uña/cirugía , Uñas Malformadas/etiología , Uñas Malformadas/cirugía , Enfermedades Raras , Resultado del Tratamiento , Verrugas/etiologíaRESUMEN
Tinea imbricata (TI) is a geographically restricted dermatophytosis with distinctive clinical and immunologic features. We present a case of TI occurring in a native Brazilian child with previously undiagnosed human immunodeficiency virus infection. Physicians should bear in mind that diagnosis of TI may be a clinical clue to potentially serious underlying immunodeficiency.
Asunto(s)
Infecciones por VIH/diagnóstico , Tiña/diagnóstico , Trichophyton/aislamiento & purificación , Administración Oral , Antifúngicos/uso terapéutico , Preescolar , Frente , Griseofulvina/uso terapéutico , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/microbiología , Humanos , Masculino , Tiña/tratamiento farmacológico , Tiña/microbiologíaRESUMEN
Classically known as the "Great Imitator", the diagnosis of syphilis continues to be an enormous challenge. We describe a case of isolated oral lesions as the sole presentation of secondary syphilis and only clinical clue to previously undiagnosed human immunodeficiency virus infection. The current increase in new cases of syphilis is leading to reemergence of forgotten old scenarios, which physicians should bear in mind within the differential diagnosis of their daily practice.
Asunto(s)
Enfermedades de la Boca/diagnóstico , Sífilis/diagnóstico , Antibacterianos/uso terapéutico , Diagnóstico Diferencial , Seropositividad para VIH , Humanos , Masculino , Persona de Mediana Edad , Enfermedades de la Boca/tratamiento farmacológico , Enfermedades de la Boca/microbiología , Penicilina G Benzatina/uso terapéutico , Fumar , Sífilis/tratamiento farmacológicoRESUMEN
Adult-onset dermatomyositis (DM) is an idiopathic inflam- matory myopathy frequently associated with underlying cancer, including gastrointestinal tumors. However, its as- sociation with carcinomas of the hepatobiliary tract is exceptional. We present a case of paraneoplastic DM occurring as the first and only clinical manifestation of an underlying carcinoma of gallbladder.
Asunto(s)
Carcinoma/patología , Dermatomiositis/patología , Neoplasias de la Vesícula Biliar/patología , Neoplasias Primarias Desconocidas/patología , Síndromes Paraneoplásicos/patología , Dermoscopía , Femenino , Humanos , Persona de Mediana Edad , Debilidad Muscular/etiología , Debilidad Muscular/patología , Tomografía Computarizada por Rayos XAsunto(s)
Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Mycobacterium chelonae/aislamiento & purificación , Diálisis Renal/efectos adversos , Tromboflebitis/microbiología , Anciano , Amicacina/uso terapéutico , Antibacterianos/uso terapéutico , Biopsia con Aguja , Claritromicina/uso terapéutico , Quimioterapia Combinada , Humanos , Inmunohistoquímica , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/terapia , Masculino , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Mycobacterium chelonae/efectos de los fármacos , Necrosis/patología , Pronóstico , Diálisis Renal/métodos , Índice de Severidad de la Enfermedad , Tromboflebitis/tratamiento farmacológico , Tromboflebitis/etiología , Tromboflebitis/patología , Resultado del TratamientoAsunto(s)
Dermatomiositis/inducido químicamente , Dermatosis de la Mano/diagnóstico , Hidroxiurea/efectos adversos , Hiperpigmentación/diagnóstico , Enfermedades de la Uña/diagnóstico , Trombocitemia Esencial/tratamiento farmacológico , Dermatomiositis/patología , Diagnóstico Diferencial , Estudios de Seguimiento , Dermatosis de la Mano/inducido químicamente , Humanos , Hidroxiurea/uso terapéutico , Hiperpigmentación/inducido químicamente , Masculino , Persona de Mediana Edad , Enfermedades de la Uña/inducido químicamente , Enfermedades Raras , Medición de Riesgo , Trombocitemia Esencial/diagnósticoRESUMEN
BACKGROUND: The calcineurin pathway is often activated in mycosis fungoides. We aimed to assess the activity and safety of topical pimecrolimus, a calcineurin inhibitor, in patients with early mycosis fungoides. METHODS: PimTo-MF was a single-arm, multicentre, phase 2 trial done at six medical centres in Spain. Patients (aged ≥18 years) had histologically confirmed early mycosis fungoides (stages IA-IIA) and an Eastern Cooperative Oncology Group performance status of 0-1. Key exclusion criteria included the use of concurrent treatments for mycosis fungoides, including sunbathing, topical or systemic corticosteroids, and other calcineurin inhibitors. Patients applied topical pimecrolimus 1% cream on their skin lesions twice daily for 16 weeks (1 g per 2% of body surface), with subsequent follow-up of 12 months. Dosage modifications were not allowed. To evaluate adherence to the treatment, patients were instructed to return all empty tubes to the hospital (as per drug accountability protocols). The primary endpoint was the overall response ratein the intention-to-treat population. PimTo-MF is registered with EudraCT, 2014-001377-14, and is complete. FINDINGS: Between March 1, 2015, and Sept 30, 2016, 39 patients were enrolled. All patients were assessable, with a median age of 51·5 years (IQR 45-62), and the population was predominantly male (24 male [62%], 15 female [38%]). Median follow-up after baseline was 5·7 years (IQR 5·7-6·2). 22 (56%) of 39 patients had an overall response (one complete response, 21 partial responses). Responses were observed across IA (14 [54%] of 26 patients) and IB (eight [73%] of 11 patients) clinical stages, but not IIA. Topical pimecrolimus was well tolerated and no patient required a dose reduction or discontinued treatment because of unacceptable drug-related toxicity. No patients were lost to follow-up or discontinued treatment. 13 (33%) of 39 patients reported adverse events; transitory mild burning or pruritus (grade 1) was the most common, seen in eight (21%) patients. In three (8%) of these patients, the burning or pruritus was considered related to treatment. No grade 4 or 5 adverse events were observed. INTERPRETATION: Pimecrolimus 1% cream seems active and safe in patients with early stage mycosis fungoides. Our findings should be taken with caution until long-term follow-up data are obtained that confirm the safety of this treatment. Further controlled clinical trials are warranted to confirm these results. FUNDING: Instituto de Salud Carlos III and the European Regional Development Fund. TRANSLATION: For the Spanish translation of the abstract see Supplementary Materials section.
Asunto(s)
Micosis Fungoide , Neoplasias Cutáneas , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Micosis Fungoide/tratamiento farmacológico , Prurito/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Tacrolimus/efectos adversos , Tacrolimus/análogos & derivadosAsunto(s)
Neoplasias de los Párpados/patología , Papulosis Linfomatoide/patología , Neoplasias Cutáneas/patología , Biopsia con Aguja , Neoplasias de los Párpados/diagnóstico , Femenino , Humanos , Inmunohistoquímica , Papulosis Linfomatoide/diagnóstico , Persona de Mediana Edad , Remisión Espontánea , Medición de Riesgo , Neoplasias Cutáneas/diagnósticoAsunto(s)
Absceso/microbiología , Tuberculosis Cutánea/microbiología , Femenino , Humanos , Persona de Mediana Edad , MusloRESUMEN
Acne vulgaris presenting from birth to preadolescence can be confusing to diagnose and even more challenging to evaluate and manage. The differential diagnosis of acne varies by age and, in some cases (especially when it presents in midchildhood), deserves a thorough evaluation to rule out underlying systemic abnormalities. Acne management strategies, including factors affecting adherence to the treatment regimen, may be influenced by the patient's age. This article presents an overview of the clinical presentations of acne by age and our approach to evaluation and management of this common condition.
Asunto(s)
Acné Vulgar/diagnóstico , Acné Vulgar/tratamiento farmacológico , Fármacos Dermatológicos/uso terapéutico , Manejo de la Enfermedad , Niño , Preescolar , Humanos , Lactante , Recién NacidoRESUMEN
We present a case of intense genital swelling because of a hereditary angioedema. This rare disease should be included in the differential diagnosis of acute and asymptomatic genital edema, because it may prevent future potentially life-threatening episodes of visceral angioedema.