Imunomapeamento nas epidermólises bolhosas hereditárias

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Section: Discussionsupporting

confidence: 54%

Sporadic Kindler Syndrome with a novel mutation

Almeida

Heckler

Fong

et al. 2013

“…As genetic differentiation is not available in most Brazilian cities, subtypes are usually distinguished by immunological and ultra-structural analysis. 32,33 Subclassification is important in determining prognosis (risk of mucosal involvement, development of malignancies and premature death), as well as in providing subsidies for genetic counseling. 32 …”

Section: Diagnosismentioning

confidence: 99%

“…These limitations can be overcome with the concomitant use of immunofluorescence to map the basement membrane in frozen tissue sections with a variety of antibodies, including laminin-1 and 5, collagen V, VII and XVII, bullous pemphigoid antigen, integrin α6β4 and plectin. 9,33 EM is a relatively expensive method and one that is not yet routinely performed. Immunohistochemical study uses a limited number of antibodies and can be a useful alternative.…”

Section: Diagnosismentioning

confidence: 99%

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Inherited epidermolysis bullosa: clinical and therapeutic aspects

Boeira

Souza

Rocha

et al. 2013

Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be investigated. Diagnosis must be based on clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages.

“…This level of cleavage can be easily demonstrated with monoclonal antibodies against collagen IV (the basement membrane), in so-called immunomapping. 1-3 DBE is secondary to inherited dysfunction of collagen VII, the protein that forms the anchoring fibrils, which adhere the basement membrane to the dermal collagen. 4,5 …”

Section: Introductionmentioning

confidence: 99%

Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa

Almeida

Monteiro

Silva

et al. 2013

In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss. We performed scanning electron microscopy of an inverted blister roof of a case of dystrophic epidermolysis bullosa, confirmed by immunomapping and gene sequencing. With a magnification of 2000 times a net attached to the blister roof could be easily identified. This net was composed of intertwined flat fibers. With higher magnifications, different fiber sizes could be observed, some thin fibers measuring around 80 nm and thicker ones measuring between 200 and 300 nm.