RESUMEN
Epidermolysis bullosa (EB) is a hereditary mechanobullous disease of animals and humans, characterized by an extreme fragility of the skin and mucous membranes. The main feature of EB in humans and animals is the formation of blisters and erosions in response to minor mechanical trauma. Epidermolysis bullosa is caused by mutations in the genes that code for structural proteins of the cytoskeleton of the basal keratinocytes or of the basement membrane zone. Based on the ultrastructural levels of tissue separation, EB is divided into the following three broad categories: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. Human types of EB are divided into several subtypes based on their ultrastructural changes and the mode of inheritance; subtypes are not fully established in animals. In humans, it is estimated that EB affects one in 17,000 live births; the frequency of EB in different animals species is not known. In all animal species, except in buffalo with epidermolysis bullosa simplex, multifocal ulcers are observed on the gums, hard and soft palates, mucosa of the lips, cheek mucosa and dorsum of the tongue. Dystrophic or absent nails, a frequent sign seen in human patients with EB, corresponds to the deformities and sloughing of the hooves in ungulates and to dystrophy or atrophy of the claws in dogs and cats. This review covers aspects of the molecular biology, diagnosis, classification, clinical signs and pathology of EB reported in animals.
Asunto(s)
Epidermólisis Ampollosa/veterinaria , Animales , Enfermedades de los Gatos/diagnóstico , Enfermedades de los Gatos/patología , Gatos , Bovinos , Enfermedades de los Bovinos/diagnóstico , Enfermedades de los Bovinos/patología , Enfermedades de los Perros/diagnóstico , Enfermedades de los Perros/patología , Perros , Epidermólisis Ampollosa/clasificación , Epidermólisis Ampollosa/diagnóstico , Epidermólisis Ampollosa/patología , Epidermólisis Ampollosa Distrófica/diagnóstico , Epidermólisis Ampollosa Distrófica/patología , Epidermólisis Ampollosa Distrófica/veterinaria , Epidermólisis Ampollosa Simple/diagnóstico , Epidermólisis Ampollosa Simple/patología , Epidermólisis Ampollosa Simple/veterinaria , Epidermólisis Ampollosa de la Unión/diagnóstico , Epidermólisis Ampollosa de la Unión/patología , Epidermólisis Ampollosa de la Unión/veterinaria , Piel/patologíaRESUMEN
A simple and rapid procedure to diagnose major variants of congenital epidermolysis bullosa (EB) by means of immunohistochemical staining of collagen IV (CIV) in formalin-fixed and paraffin-embedded samples is described. Sixteen cases were stained with a monoclonal antibody (clone CIV 22) against collagen IV present in the lamina densa layer of the basement membrane. Electron microscopy was performed simultaneously. Twelve cases showed one of two staining patterns: an EB simplex pattern (seven cases) consisting of linear and continuous staining on the "floor" of the blister and an EB dystrophica pattern (five cases) showing a linear and discontinuous staining on the "roof" of the blister. In four cases, collagen IV staining was not reactive because of irreversible antigen loss due to inadequate fixation and/or embedding. In those cases with positive staining, an excellent correlation with electron microscopic diagnosis was achieved. This procedure allows a rapid diagnosis of major EB variants, especially where electron microscopy is not available, and also facilitates diagnosis by optimally orienting specimens for ultrastructural examination when available.
Asunto(s)
Anticuerpos Monoclonales , Colágeno/análisis , Epidermólisis Ampollosa/diagnóstico , Adulto , Membrana Basal/patología , Vesícula/patología , Niño , Preescolar , Colágeno/inmunología , Colorantes , Epidermólisis Ampollosa/clasificación , Epidermólisis Ampollosa/patología , Epidermólisis Ampollosa Distrófica/diagnóstico , Epidermólisis Ampollosa Distrófica/patología , Epidermólisis Ampollosa Simple/diagnóstico , Epidermólisis Ampollosa Simple/patología , Femenino , Fijadores , Formaldehído , Humanos , Inmunohistoquímica , Lactante , Masculino , Microscopía Electrónica , Adhesión en ParafinaRESUMEN
Diversas enfermedades cutáneas se caracterizan por alteraciones localizadas preferentemente en la zona de membrana basal. Estas dermatosis se han hereditarias y adquiridas. Se pueden encontrar cambios ultraestructurales en la membrana basal, muchos de los cuales serían causados por fenómenos autoinmunes. Múltiples investigaciones han permitido aclarar la morfogénesis de las lesiones clínicamente visibles que afectan esta zona en particular. En la presente revisión se realiza una puesta al día de la última información de la literatura sobre estas interesantes enfermedades
Asunto(s)
Humanos , Membrana Basal/ultraestructura , Enfermedades de la Piel/patología , Dermatitis Herpetiforme/patología , Epidermólisis Ampollosa Adquirida/patología , Epidermólisis Ampollosa de la Unión/patología , Epidermólisis Ampollosa Distrófica/patología , Epidermólisis Ampollosa Simple/patología , Lupus Eritematoso Discoide/patología , Penfigoide Benigno de la Membrana Mucosa/patología , Penfigoide Ampolloso/patologíaRESUMEN
An infant with epidermolysis bullosa simplex had diarrhea at 3 weeks of age; severe ulcerative colitis was subsequently diagnosed. Epidermolysis bullosa simplex has not been associated with gastrointestinal disease except for buccal ulceration.