| Abstract | Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare variant of non-lethal junctional epidermolysis bullosa characterized by generalized skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. Other features include mild mucosal blistering, dental abnormalities and nail dystrophy. We report four additional cases of GABEB from two families originating from the same isolated village. The patients shared an unusually mild clinical phenotype with cutaneous blisters strictly limited to trauma sites and rare occurrence of oral mucosal lesions. Scalp, eyelash and eyebrow alopecia was present in only two cases. Immunofluorescence studies showed a markedly reduced expression of the 180-kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients. |
| Authors | C Mazzanti, T Gobello, P Posteraro, M Paradisi, G Meneguzzi, L Chinni, G Zambruno
(Affiliation: VIII Department of Dermatology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.)
|
| Journal | The British journal of dermatology
(Br J Dermatol)
Vol. 138
Issue 5
Pg. 859-66
(May 1998)
ISSN: 0007-0963 ENGLAND |
| PMID | 9666835
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- Autoantigens
- Carrier Proteins
- Cytoskeletal Proteins
- DST protein, human
- Nerve Tissue Proteins
- Non-Fibrillar Collagens
- collagen type XVII
- Collagen
|
| Topics |
- Adult
- Aged
- Autoantigens
(analysis)
- Carrier Proteins
- Collagen
- Cytoskeletal Proteins
- Epidermolysis Bullosa, Junctional
(genetics, immunology, pathology)
- Female
- Fluorescent Antibody Technique
- Humans
- Male
- Middle Aged
- Nerve Tissue Proteins
- Non-Fibrillar Collagens
- Pedigree
- Phenotype
- Skin
(ultrastructure)
|
