Extracutaneous epithelial involvement in inherited epidermolysis bullosa

Holbrook, K. A.

doi:10.1001/archderm.124.5.726

Cited by 14 publications

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“…Having unaffected, consanguineous parents suggests an autosomal recessive inheritance form of dystrophic EB 11 , and this was confirmed by genetic testing. The oral findings are consistent with what has been described in this condition: blister formation, scarring, vestibular obliteration, microstomia, and extensive dental decay [6][7][8][9] . The comprehensive care of children with dystrophic EB can be difficult because of the severe limitations imposed by the condition.…”

Section: Discussionsupporting

confidence: 90%

Dental and anaesthetic management of children with dystrophic epidermolysis bullosa

Lindemeyer

Wadenya

Maxwell

2009

Int J Paed Dentistry

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Section: Discussionsupporting

confidence: 90%

Dental and anaesthetic management of children with dystrophic epidermolysis bullosa

Lindemeyer

Wadenya

Maxwell

2009

Int J Paed Dentistry

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“…Junctional epidermolysis bullosa (JEB) is a collection of recessively inherited diseases characterized by intra-lamina lucida blistering of the skin and certain other epithelial tissues (Gedde-Dahl, 1971;Holbrook, 1988;Tabas et aZ., 1987). The Herlitz subtype (HJEB) results in severe generalized skin disease and the most extensive distribu-tion of internal involvement.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

et al. 1995

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Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal-epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal second-trimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the beta 2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.

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“…Deformities of the hands and feet may occur due to subsequent scar formation (5). RDEB patients have many extracutaneous symptoms such as pyloric atresia, diverticulae of the gastrointestinal tract, hydroureter, hydronephrosis, cataract, and keratoconjunctivitis (6). Our patient had been diagnosed with congenital megacolon and mucinous cystadenoma several years earlier.…”

Section: Discussionmentioning

confidence: 79%

A Case of Recessive Dystrophic Epidermolysis Bullosa with Esophageal Stenosis Treated with Endoscopic Bougienage

Lee

Song²,

Kim³

2002

The Journal of Dermatology

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Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, hereditary, chronic, non-inflammatory mechanobullous disease. Esophageal involvement is invariable in RDEB patients. A 15-year-old girl visited with protracted vesiculobullous skin eruptions since birth. On physical examination, bullae, atrophic scars, milia, crusts and erosions were noted primarily on the distal extremities. Loss of entire nails and syndactyly of the right fourth and fifth toes were seen. Diagnosis of RDEB was confirmed by clinical, histopathologic, immunofluorescent and electron microscopic findings. Endoscopic and esophagographic studies revealed a stenosis and several hemorrhagic bullae and erosions. She successfully underwent bougienage under endoscopic and fluoroscopic control

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Extracutaneous epithelial involvement in inherited epidermolysis bullosa

Cited by 14 publications

References 0 publications

Dental and anaesthetic management of children with dystrophic epidermolysis bullosa

Dental and anaesthetic management of children with dystrophic epidermolysis bullosa

Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

A Case of Recessive Dystrophic Epidermolysis Bullosa with Esophageal Stenosis Treated with Endoscopic Bougienage

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