ABSTRACT
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with susceptibility to beta-human papilloma virus (HPV) infection. EV patients develop disseminated warts and non-melanoma skin cancer, mainly squamous cell carcinomas (SCC) that are locally aggressive. EV pathogenesis is not yet fully understood, but alterations in the p16 gene play a role in the pathogenesis of neoplasms caused by high-risk genital HPV. To explore its role in EV lesions, we compared p16 expression in SCC from patients with and without EV. Tissue microarray slides composed of 27 SCC from EV patients, and 35 from non-EV patients were stained with an anti-p16 antibody. Twenty (74%) EV tumors exhibited diffuse (nuclear and cytoplasmic) p16 expression, one (4%) displayed focal expression, and six (22%) displayed no p16 staining. Eleven (31%) SCC from non-EV patients presented diffuse p16 staining, 14 (40%) displayed focal expression and 10 (29%) did not express p16. The frequency of diffuse p16 expression was higher in EV tumors than in SCC from patients without EV. The frequency of diffuse p16 expression in moderately and poorly differentiated EV-SCC was similarly higher than non-EV tumors with the same degree of differentiation. The diffuse expression of p16 in EV-SCC suggests that changes in the p16 gene, probably resulting in a functionally defective protein, may be one factor determining the locally aggressive clinical behavior of SCC in young EV patients.
Subject(s)
Carcinoma, Squamous Cell/pathology , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Epidermodysplasia Verruciformis/pathology , Papillomavirus Infections/pathology , Skin Neoplasms/pathology , Adult , Age Factors , Aged , Biopsy , Carcinoma, Squamous Cell/immunology , Carcinoma, Squamous Cell/virology , Disease Susceptibility/immunology , Epidermodysplasia Verruciformis/genetics , Epidermodysplasia Verruciformis/immunology , Female , Humans , Immunohistochemistry , Male , Papillomaviridae/isolation & purification , Papillomavirus Infections/immunology , Papillomavirus Infections/virology , Rare Diseases/genetics , Rare Diseases/immunology , Rare Diseases/pathology , Skin/pathology , Skin/virology , Skin Diseases, Genetic/genetics , Skin Diseases, Genetic/immunology , Skin Diseases, Genetic/pathology , Skin Neoplasms/immunology , Skin Neoplasms/virology , Tissue Array AnalysisABSTRACT
Vogt-Koyanagi-Harada disease (VKHD) is a rare granulomatous inflammatory disease that affects pigmented structures, such as eye, inner ear, meninges, skin and hair. This disease is mainly a Th1 lymphocyte mediated aggression to melanocytes after a viral trigger in the presence of HLA-DRB1*0405 allele. The absence of ocular trauma or previous intraocular surgery sets VKHD appart from sympathetic ophthalmia, its main differential diagnosis. The disease has an acute onset of bilateral blurred vision with hyperemia preceded by flu-like symptoms. The acute uveitic stage is characterized by a diffuse choroiditis with serous retinal detachment and optic disc hyperemia and edema. Fluorescein angiography in this phase demonstrates multiple early hyperfluorescent points. After the acute uveitic stage, ocular and integumentary system pigmentary changes may appear. Ocular findings may be accompanied by lymphocytic meningitis, hearing impairment and/or tinnitus in a variable proportion of patients. Prompt diagnosis followed by early, aggressive and long-term treatment with high-dose corticosteroids is most often ensued by good visual outcomes. However, some patients may experience chronic uveal inflammation with functional eye deterioration. The current review discusses the general features of VKHD, including epidemiology, classification into categories, differential diagnosis and current therapeutic approaches.
Subject(s)
Autoimmune Diseases/metabolism , Melanocytes/metabolism , Rare Diseases/metabolism , Uveomeningoencephalitic Syndrome/metabolism , Animals , Autoimmune Diseases/immunology , Humans , Melanocytes/immunology , Rare Diseases/immunology , Uveitis/immunology , Uveitis/metabolism , Uveomeningoencephalitic Syndrome/immunologyABSTRACT
Se realizó una revisión bibliográfica sobre algunos síndromes pediátricos con nombres raros. Esta compilación se realizó con la finalidad de ampliar la información médica (y cultura) acerca de aspectos relacionados con la sinonimia, etiología, clínica y diagnóstico de estas afecciones; para hacer más interesante el trabajo, los síndromes se describieron por orden alfabético. Se utilizó como método empírico el análisis documental y bibliográfico(AU)
A literature review on some pediatric syndromes with strange names was made. This compilation was done in order to expand health information (and culture) about aspects of synonyms; etiology, clinical and diagnosis of these conditions; to do more interesting work; the syndromes are described in alphabetical order. Documentary and bibliographic analysis was used as an empirical method(AU)
Subject(s)
Humans , Child , Rare Diseases/genetics , Rare Diseases/immunology , Rare Diseases/physiopathology , Pediatrics , Intellectual DisabilityABSTRACT
The pemphigus group comprises the autoimmune intraepidermal blistering diseases classically divided into two major types: pemphigus vulgaris and pemphigus foliaceous. Pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus are rarer forms that present some clinical, histological and immunopathological characteristics that are different from the classical types. These are reviewed in this article. Future research may help definitively to locate the position of these forms in the pemphigus group, especially with regard to pemphigus herpetiformis and the IgG/ IgA pemphigus.
Subject(s)
Pemphigus/pathology , Rare Diseases/pathology , Female , Humans , Immunoglobulin A/immunology , Immunoglobulin G/immunology , Male , Paraneoplastic Syndromes/pathology , Pemphigus/immunology , Pemphigus/therapy , Rare Diseases/immunology , Rare Diseases/therapy , Skin/pathologyABSTRACT
The pemphigus group comprises the autoimmune intraepidermal blistering diseases classically divided into two major types: pemphigus vulgaris and pemphigus foliaceous. Pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus are rarer forms that present some clinical, histological and immunopathological characteristics that are different from the classical types. These are reviewed in this article. Future research may help definitively to locate the position of these forms in the pemphigus group, especially with regard to pemphigus herpetiformis and the IgG/ IgA pemphigus.
Subject(s)
Female , Humans , Male , Pemphigus/pathology , Rare Diseases/pathology , Immunoglobulin A/immunology , Immunoglobulin G/immunology , Paraneoplastic Syndromes/pathology , Pemphigus/immunology , Pemphigus/therapy , Rare Diseases/immunology , Rare Diseases/therapy , Skin/pathologyABSTRACT
A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating the diagnosis of patients with GHI due to STAT5B mutations in endocrinology and other specialties clinics.
Subject(s)
Human Growth Hormone/genetics , Immune System Diseases/genetics , Laron Syndrome/genetics , Mutation , Rare Diseases/genetics , STAT5 Transcription Factor/deficiency , Humans , Immune System Diseases/immunology , Interleukins/metabolism , Laron Syndrome/therapy , Rare Diseases/immunology , STAT5 Transcription Factor/genetics , STAT5 Transcription Factor/immunology , Signal TransductionABSTRACT
Uma nova apresentação da insensibilidade ao hormônio de crescimento (IGH), causada por mutações em homozigose no gene STAT5B (transdutor de sinal e ativador de transcrição tipo 5B), foi caracterizada nos últimos anos. Sua particularidade é a associação com quadros de disfunção imunológica grave, sendo o mais característico a pneumonite intersticial linfocítica. A presença concomitante de doenças crônicas imunológicas pode fazer com que a baixa estatura seja erroneamente considerada uma consequência do quadro clínico, levando ao subdiagnóstico dessa forma de IGH. O objetivo desta revisão é divulgar o conhecimento atual sobre essa rara patologia, facilitando o reconhecimento de pacientes com IGH secundária a mutações no gene STAT5B em ambulatórios de endocrinologia e de outras especialidades.
A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating the diagnosis of patients with GHI due to STAT5B mutations in endocrinology and other specialties clinics.