| Abstract | We present the case of a newborn with congenital absence of skin in the anterior part of the left leg that shortly after developed bulla and erosions in hands, feet, ears, buttocks and mouth. The cutaneous biopsy and ultrastructural and immunohistochemical studies showed a subepidermal bulla in the lamina lucida, absence of hemidesmosomes and marked decrease of laminin 5, thus establishing the diagnosis of Bart syndrome associated to the Herlitz form of lethal junctional epidermolysis bullosa. Bart syndrome consists of congenital and localized absence of skin, nail abnormalities and mucoc-cutaneous bullae. It is usually associated to dystrophic epidermolysis bullosa. The Herlitz form of junctional epidermolysis bullosa is a rare variant, usually lethal that is produced by mutations in the genes coding for the anchor protein laminin 5. To our knowledge this is the second case that reports an association between Bart syndrome and lethal junctional epidermolysis bullosa and the first in which the results of immunofluorescence mapping are published. |
| Authors | J M Casanova, R M Martí, M Baradad, R Egido, J M Mascaró
(Affiliation: Servicio de Dermatología, Hospital Universitari Arnau de Vilanova de Lleida, Spain. jmcasanova at medicina.udl.es)
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| Journal | Actas dermo-sifiliográficas
(Actas Dermosifiliogr)
Vol. 97
Issue 10
Pg. 658-61
(Dec 2006)
ISSN: 0001-7310 Spain |
| Vernacular Title | Síndrome de Bart asociado a epidermólisis ampollosa hereditaria letal (Herlitz). |
| PMID | 17173830
(Publication Type: Case Reports, English Abstract, Journal Article, Review)
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| Chemical References |
- Collagen Type VII
- Laminin
|
| Topics |
- Collagen Type VII
(analysis, genetics)
- Epidermolysis Bullosa, Junctional
(complications, pathology)
- Fatal Outcome
- Hemidesmosomes
(ultrastructure)
- Humans
- Infant, Newborn
- Laminin
(analysis, deficiency, genetics)
- Male
- Microscopy, Fluorescence
- Nails, Malformed
(complications)
- Sepsis
(etiology)
- Skin Abnormalities
(complications, genetics, pathology)
- Skin Diseases, Vesiculobullous
(complications, congenital, pathology)
- Syndrome
|
