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Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa
Author(s) -
BRUCKNERTUDERMAN LEENA,
NIEMI KIRSTIMARIA,
KERO MATTI,
SCHNYDER URS W.,
REUNALA TIMO
Publication year - 1990
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1990.tb08287.x
Subject(s) - anchoring fibrils , dermoepidermal junction , lamina densa , collagen, type i, alpha 1 , basement membrane , fibril , epidermolysis bullosa , immunofluorescence , pathology , connective tissue , matrix (chemical analysis) , ultrastructure , collagen fibril , chemistry , extracellular matrix , anatomy , medicine , antibody , dermis , biochemistry , immunology , chromatography
SUMMARY A patient with dystrophic epidermolysis bullosa inversa was studied using electron microscopy and indirect immunofluorescence using antibodies to matrix macromolecules of the dermo‐epidermal junction zone. There was splitting below the lamina densa with an apparently normal basement membrane, but a lack of intact anchoring fibrils and with a disarranged papillary connective tissue. Indirect immunofluorescence examination with antibodies to type VII collagen, the major structural protein of anchoring fibrils, showed a normal linear staining pattern. Synthesis of type VII collagen which is unable to form stable, resistant anchoring fibrils may be a distinct feature of this subtype of recessive dystrophic epidermolysis bullosa.