Limbal stem cell deficiency:Concept, aetiology, clinical presentation, diagnosis and management

Defects in renewal and repair of ocular surface as a result of limbal stem cell deficiency are now known to cause varying ocular, surface morbidity including persistent photophobia, repeated and persistent surface breakdown and overt conjunctivalisation of the cornea. Ocular conditions with abnormalities of ocular surface repair include pterygium, limbal tumours, aniridia, severe scarring following burns, cicatricial pemphigoid and Stevens-Johnson Syndrome, sequelae of mustard gas exposure and Herpes simplex epithelial disease, radiation keratopathy, contact lens induced keratopathy, neuroparalytic keratitis and drug toxicity. Restoring ocular health in these eyes has traditionally been frustrating. An understanding of these intricate cell renewal and maintenance processes has spurred the evolution in recent years of new treatment methods for several blinding diseases of the anterior segment; many more exciting modalities are in the offing. However, there is inadequate awareness among ophthalmologists about the current principles of management of ocular surface disorders. The purpose of this article is to help elucidate the important principles and current treatment methods relevant to ocular surface disorders.

Clinicopathological analysis of oral mucous autoimmune disease: A 27-year study

Objectives: The aim of the present study was to analyze the main clinical and histopathological features of autoimmune diseases with oral manifestations such as oral lichen planus (OLP); mucous membrane pemphigoid (MMP); pemphigus vulgaris (PV) and erythema multiforme (EM). Study design: Retrospective review of 5770 files from the Oral Pathology Laboratory of Sao Jose dos Campos Dental School, São Paulo State University (UNESP) comprising a 27- year period from 1974 to 2000.Results: The cases accounted for 64 (1.10%) of 5770 anatomopathological examinations performed over the study period. Among the autoimmune diseases diagnosed, 49 (76.56%) were OLP, 6 (9.37%) were MMP, 5 (7.82%) were em and 4 (6.25%) were PV. Descriptive statistical analysis was used.Conclusion: The initial manifestations of most autoimmune diseases occur in the oral mucosa. An earlier diagnosis and proper therapeutic protocol will delay the dissemination of the lesions, thus greatly contributing to a better prognosis and quality of life of the patient.

Caso para diagnóstico

Apresenta-se um caso de bullosis diabeticorum, doença rara associada ao diabetes mellitus crônico e complicações como a neuropatia ou nefropatia. As bolhas são tensas e grandes, com pouca inflamação circundante e localização acral, regredindo espontaneamente em cerca de três semanas. O exame histopatológico é inespecífico, e o diagnóstico diferencial deve ser feito com a epidermólise bolhosa, os pênfigos, o penfigóide bolhoso, queimaduras e erisipelas bolhosas.

Dermatoses bolhosas auto-imunes

Autoimmune bullous dermatoses are diseases in which blisters and vesicles are the primary and fundamental types of skin lesion. Their classification is based on the location of the blister: intraepidermal and subepidermal. Patients produce autoantibodies against self-specific structures of the skin detectable by immunofluorescence techniques, immunoblotting and ELISA. Recent advances in molecular and cellular biology have brought to knowledge these self-antigens, against which patients are sensitized, and which are found in epidermis or in the dermo-epidermal junction. These are low incidence, but high morbidity diseases that may be fatal. The aim of this article is to review and describe the progress of four autoimmune vesiculobullous disorders: endemic pemphigus foliaceous (wild fire), pemphigus vulgaris, bullous pemphigoid and dermatitis herpetiformis. ©2009 by Anais Brasileiros de Dermatologia.

Seguimiento multidisciplinario en el control del penfigoide de membranas mucosas

The term Mucous Membrane Pemphigoid includes a group of chronic and autoimmune vesiculobullous diseases involving mainly the mucosa. The aim of present paper is to describe two clinical cases of Mucous Membrane Pemphigoid with gingival involvement to arrive to a proper diagnosis of the lesion and also to discuss the therapeutic behavior. Different complementary examinations were conducted including Nikolsky test, incisional biopsy, the LE cells study and of antinuclear antibodies, as well as the evaluation of dermatologists and ophthalmologists. It was necessary the replacement of toothpastes, the nutritional and psychological guiding, the hygiene care and the use of topic corticoids. There were periods of remission and exacerbation of clinical picture during follow-up being necessary the therapeutics fitting and the oral hygiene care reinforcement. It is important the multidisciplinary interaction in the care of these cases for treatment and follow-up control, as well as to reinforce all orientations and cares related to oral hygiene and the caution in the use of corticoids.

Prevalência e aspectos clínicos de doenças gengivais de origem imune e influência da placa bacteriana na melhora dos sinais e sintomas de lesões gengivais de líquen plano bucal

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Quality of life index in autoimmune bullous dermatosis patients

Background: Autoimmune bullous dermatoses are complex diseases triggered by autoantibodies action against epidermal antigens or the dermoepidermal junction. Blisters and vesicles that evolve with erosion areas characterize them. Although rare, they present high morbidity, affecting the quality of life of patients.Objectives: To assess the magnitude of autoimmune bullous dermatoses on life quality of patients treated in a public university service in countryside of Brazil. Methods: This cross-sectional study was based on an inquiry with autoimmune bullous dermatoses patients assisted at outpatient university referral service. Elements related to quality of life were evaluated by the Dermatology Life Quality Index, as well as clinical and demographic data. Results: The study evaluated 43 patients with pemphigus foliaceus, 32 with pemphigus vulgaris, 6 with bullous pemphigoid and 3 with dermatitis herpetiformis. The average age was 48 +/- 16 years and 34 (40%) were female. The median score (p25-p75) of the Dermatology Life Quality Index was 16 (9-19), classified as "severe impairment" of life quality, in which the greater impact was related to symptoms and feelings, daily and leisure activities. Conclusions: Autoimmune bullous dermatoses inflict severe impairment of quality of life for patients followed by a public outpatient clinic in the countryside of Brazil.

Valutazione dell'efficacia di methotrexate e sua influenza sui titoli anticorpali patogenetici nei pazienti affetti da pemfigoide bolloso

Studio osservazionale condotto presso la Dermatologia dell'Università di Bologna atto a valutare l'efficacia di methotrexate e, in particolare, la sua influenza sui titoli degli autoanticorpi patogeni nei pazienti affetti dalla malattia rara Pemfigoide Bolloso

[Case report of osteo-odonto keratoprosthesis (Strampelli) and of Dacron keratoprosthesis (Pintucci)]

BACKGROUND: In severe forms of ocular surface disorders keratoprostheses provide the ultimate possibility to restore vision. They are made of an optical cylinder integrated with a supporting biocompatible or biological haptic. CASE REPORT: We report on two patients with different types of keratoprostheses. An 88-year-old woman with ocular pemphigoid received in 1970 a bilateral osteo-odonto-keratoprosthesis (Strampelli). A 59-year-old man with refractory corneal ulcer after corneal grafting received in 2003 a keratoprosthesis with supporting Dacron tissue (Pintucci). RESULTS: The course 35 years after implantation of the osteo-odonto-keratoprosthesis was uneventful. Histologically there were no signs of loosening, rejection or infection. The autologous dentin, which was used for the fixation, was still present. The eye with the Dacron fixated prosthesis (Pintucci) had to be enucleated due to a loosening with endophthalmitis one and a half year after implantation. CONCLUSIONS: Keratoprostheses with autologous fixation often show good long-term results. On the other hand, prostheses with synthetic material are more often complicated by dislocation and inflammation.

Plakins, a Versatile Family of Cytolinkers: Roles in Skin Integrity and in Human Diseases

The plakin family consists of giant proteins involved in the cross-linking and organization of the cytoskeleton and adhesion complexes. They further modulate several fundamental biological processes, such as cell adhesion, migration, and polarization or signaling pathways. Inherited and acquired defects of plakins in humans and in animal models potentially lead to dramatic manifestations in the skin, striated muscles, and/or nervous system. These observations unequivocally demonstrate the key role of plakins in the maintenance of tissue integrity. Here we review the characteristics of the mammalian plakin members BPAG1 (bullous pemphigoid antigen 1), desmoplakin, plectin, envoplakin, epiplakin, MACF1 (microtubule-actin cross-linking factor 1), and periplakin, highlighting their role in skin homeostasis and diseases.

Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).

Plectin, a 500-kDa intermediate filament binding protein, has been proposed to provide mechanical strength to cells and tissues by acting as a cross-linking element of the cytoskeleton. To set the basis for future studies on gene regulation, tissue-specific expression, and pathological conditions involving this protein, we have cloned the human plectin gene, determined its coding sequence, and established its genomic organization. The coding sequence contains 32 exons that extend over 32 kb of the human genome. Most of the introns reside within a region encoding the globular N-terminal domain of the molecule, whereas the entire central rod domain and the entire C-terminal globular domain were found to be encoded by single exons of remarkable length, >3 kb and >6 kb, respectively. Overall, the organization of the human plectin gene was strikingly similar to that of human bullous pemphigoid antigen 1 (BPAG1), confirming that both proteins belong to the same gene family. Comparison of the deduced protein sequences for human and rat plectin revealed that they were 93% identical. By using fluorescence in situ hybridization, we have mapped the plectin gene to the long arm of chromosome 8 within the telomeric region. This gene locus (8q24) has previously been implicated in the human blistering skin disease epidermolysis bullosa simplex Ogna. Detailed knowledge of the structure of the plectin gene and its chromosome localization will aid in the elucidation of whether this or any other pathological conditions are linked to alterations in the plectin gene.

Towards a synthetic osteo-odonto-keratoprosthesis

Osteo-odonto-keratoprostheses (OOKP) is a unique form of keratoprosthesis involving surgical removal of a tooth root and surrounding bone from the patient which are then used to construct an osteo-odonto lamina into which an optical cylinder is cemented. The OOKP procedure is successful and capable of withstanding the very hostile ocular environments found in severe Stevens–Johnson syndrome, pemphigoid, chemical burns, trachoma and multiple corneal graft failure. The existing procedure is complex and time consuming in terms of operative time, and additionally involves sacrifice of the oral structures. This paper discusses the rational search for a “synthetic” analogue of the dental lamina, capable of mimicking those features of the natural system that are responsible for the success of OOKP. In this study the degradation of selected commercial and natural bioceramics was tested in vitro using a purpose-designed resorption assay. Degradation rate was compared with tooth and bone, which are currently used in OOKP lamina. At normal physiological pH the degradation of bioceramics was equivalent to tooth and bone; however, at pH 6.5–5.0, associated with infectious and inflamed tissues, the bioceramics degrade more rapidly. At lower pH the degradation rate decreased in the following order: calcium carbonate corals > biphasic calcium phosphates > hydroxyapatite. Porosity did not significantly influence these degradation rates. Such degradation is likely to compromise the stability and viability of the synthetic OOKP. Consequently more chemically stable materials are required that are optimized for the surrounding ocular environment.

Reacções adversas a fármacos com manifestações na mucosa oral

Existe uma grande quantidade de fármacos que provocam reacções adversas na mucosa oral. Os efeitos que causam são variados, nomeadamente angioedema, língua pilosa nigra, bruxismo, síndrome da boca ardente, candidose, queilite, xerostomia, eritema multiforme, hiperplasia gengival, glossite, halitose, hiperpigmentação das mucosas, hipersalivação, reações liquenóides, lupóides, penfigóides e tipo pênfigo, osteonecrose, tumefação das glandulas salivares, alterações do paladar, ulcerações, mucosite e lesões potencialmente malignas, entre outras. Com o presente trabalho pretende-se criar uma base de dados que facilite a pesquisa dos diferentes efeitos adversos e relação com a terapêutica prescrita ao paciente, de modo a auxiliar a vida ao Médico Dentista no contexto da prestação de serviços aos seus Utentes.