ABSTRACT
El síndrome CINCA (Chronic Infantile Neurologic Cutaneous Articular Syndrome) es una grave enfermedad inflamatoria sistémica crónica, de instauración temprana, que se caracteriza por afectación cutánea, articular y del sistema nervioso central (SNC). La clínica cutánea en forma de exantema urticariforme no pruriginoso es la primera en aparecer, siendo más o menos permanente con exacerbaciones que coinciden con brotes de fiebre, artritis y adenopatías. La biopsia de las lesiones cutáneas es muy variable, aunque destaca un infiltrado neutrofílico perivascular. El descubrimiento de mutaciones en el gen CIAS1, que codifica una proteína llamada criopirina, ha permitido añadir esta entidad al espectro de las enfermedades autoinflamatorias asociadas a criopirinas, junto con la urticaria familiar por frío y el síndrome de Muckle-Wells, implicando además nuevas opciones terapéuticas. Presentamos el caso de un varón diagnosticado de síndrome CINCA que presentó un brote de lesiones cutáneas dolorosas y fiebre, interpretándose éstas como una exacerbación de sus lesiones habituales durante un episodio febril (AU)
Chronic infantile neurologic cutaneous articular (CINCA) syndrome is a serious chronic systemic inflammatory disease that presents at a young age and that is characterized by skin, joint, and central nervous system disease. Skin symptoms are the first to appear, in the form of a longstanding non pruritic urticarial rash, with exacerbations coinciding with episodes of fever, arthritis, and enlarged lymph nodes. The findings of biopsy of skin lesions are extremely variable but characterized by perivascular neutrophilic infiltrate. With the discovery of mutations in the CIAS1 gene, which encodes a protein known as cryopyrin, this entity has been classified as one of the cryopyrin-associated autoinflammatory diseases, along with familial cold urticaria and Muckle-Wells syndrome. This discovery has also made available new therapeutic options. We present the case of a boy diagnosed with CINCA syndrome who presented with an outbreak of painful skin lesions and fever. These lesions were thought to be an exacerbation of underlying lesions during an episode of fever (AU)
Subject(s)
Humans , Male , Adult , Arthritis/diagnosis , Chronic Disease , Erythema/diagnosis , Fever/diagnosis , Nervous System Diseases/complications , Nervous System Diseases/diagnosis , Syndrome , Dermatitis/diagnosis , Exanthema/complications , Adrenal Cortex Hormones/therapeutic use , Nervous System Diseases/pathology , Nervous System Diseases/therapy , Exanthema/diagnosis , Urticaria/diagnosis , Anti-Inflammatory Agents, Non-Steroidal/therapeutic useABSTRACT
Chronic infantile neurologic cutaneous articular (CINCA) syndrome is a serious chronic systemic inflammatory disease that presents at a young age and that is characterized by skin, joint, and central nervous system disease. Skin symptoms are the first to appear, in the form of a longstanding nonpruritic urticarial rash, with exacerbations coinciding with episodes of fever, arthritis, and enlarged lymph nodes. The findings of biopsy of skin lesions are extremely variable but characterized by perivascular neutrophilic infiltrate. With the discovery of mutations in the CIAS1 gene, which encodes a protein known as cryopyrin, this entity has been classified as one of the cryopyrin-associated autoinflammatory diseases, along with familial cold urticaria and Muckle-Wells syndrome. This discovery has also made available new therapeutic options. We present the case of a boy diagnosed with CINCA syndrome who presented with an outbreak of painful skin lesions and fever. These lesions were thought to be an exacerbation of underlying lesions during an episode of fever.
Subject(s)
Arthritis/genetics , Carrier Proteins/genetics , Fever/etiology , Neurocutaneous Syndromes/diagnosis , Adrenal Cortex Hormones/therapeutic use , Adult , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Carrier Proteins/physiology , Chronic Disease , Diagnosis, Differential , Drug Therapy, Combination , Humans , Interleukin 1 Receptor Antagonist Protein/therapeutic use , Male , Meningitis, Aseptic/etiology , NLR Family, Pyrin Domain-Containing 3 Protein , Neurocutaneous Syndromes/complications , Neurocutaneous Syndromes/drug therapy , Neurocutaneous Syndromes/genetics , Neurocutaneous Syndromes/pathology , Recurrence , Sweet Syndrome/diagnosis , SyndromeSubject(s)
Purpura/diagnosis , Purpura/etiology , Blood Pressure , Capillaries , Face , Female , Humans , Middle Aged , NeckABSTRACT
No disponible
Subject(s)
Female , Middle Aged , Humans , Skin Diseases, Vascular/etiology , Purpura/etiology , CapillariesABSTRACT
Malignant or noduloulcerative syphilis is an infrequent variant of secondary syphilis which appears in HIV+ patients. It is associated with fever, general malaise and skin lesions in the form of pustules or ulcerative scabs. Histology studies on the lesions show a perivascular infiltration of plasma cells and a formation of granuloma of giant and epitheloid cells. Most patients test positive for syphilis. We discuss the case of a 37-yar-old man who attended our service complaining of fever and scabby nodular lesions all over his skin. Blood testing confirmed that he had syphilis and HIV. The patient responded rapidly to penicillin treatment, with remittance of his fever. The skin lesions disappeared after 8 weeks. The rareness of malignant syphilis and its unusual clinical manifestation is a challenge to medical personnel. This diagnosis ought to be considered in HIV+ patients with fever and ulcerative skin lesions. Penicillin is the treatment of choice.
Subject(s)
HIV Infections/complications , Syphilis/diagnosis , Syphilis/etiology , Adult , Humans , MaleABSTRACT
La sífilis maligna o nódulo-ulcerativa es una forma clínica infrecuente de la sífilis secundaria que aparece en pacientes infectados por el virus de la inmunodeficiencia humana (VIH). Se presenta con fiebre, malestar general y lesiones cutáneas en forma de pústulas o costras ulceradas. El estudio histológico de las lesiones muestra un infiltrado perivascular de células plasmáticas y formación de granulomas de células gigantes y epitelioides. La serología luética es positiva en la mayoría de los pacientes. Presentamos el caso de un varón de 37 años que acude a nuestro Servicio por fiebre y lesiones nódulo-costrosas por todo el tegumento. La sospecha de lúes se apoyó en la histología y se confirmó por la serología positiva. Se solicitó serología VIH que también fue positiva. La respuesta al tratamiento con penicilina fue rápida, con desaparición de la fiebre. Las lesiones cutáneas resolvieron a las 8 semanas. La rareza de la sífilis maligna y su inusual forma clínica de manifestarse es un reto para el clínico. Es un diagnóstico que debe ser considerado en pacientes infectadoss por el VIH con fiebre y lesiones cutáneas ulceradas. El tratamiento de elección es la penicilina
Malignant or noduloulcerative syphilis is an infrequent variant of secondary syphilis which appears in HIV+ patients. It is associated with fever, general malaise and skin lesions in the form of pustules or ulcerative scabs. Histology studies on the lesions show a perivascular infiltration of plasma cells and a formation of granuloma of giant and epitheloid cells. Most patients test positive for syphilis. We discuss the case of a 37-yar-old man who attended our service complaining of fever and scabby nodular lesions all over his skin. Blood testing confirmed that he had syphilis and HIV. The patient responded rapidly to penicillin treatment, with remittance of his fever. The skin lesions disappeared after 8 weeks. The rareness of malignant syphilis and its unusual clinical manifestation is a challenge to medical personnel. This diagnosis ought to be considered in HIV+ patients with fever and ulcerative skin lesions. Penicillin is the treatment of choice