Dermoepidermal junction
Lionel Fry in Atlas of Bullous Diseases, 2020
The autoimmune subepidermal bullous disorders comprise a variety of recognized clinical entities, i.e. bullous pemphigoid, mucous membrane or cicatricial pemphigoid, linear immunoglobulin A disease, acquired epidermolysis bullosa and pemphigoid gestationis. The autoantigens have now been identified for these disorders, although the reason why patients develop antibodies to these various antigens is unknown at present. Since the antigens are components of the basement membrane region, it is important to know its structure. On electron microscopy the basement membrane, which separates the epidermis and dermis, is composed of an upper translucent area, the lamina lucida, and an electron-dense region, the lamina densa. The intracellular plaque of the hemidesmosome contains a polypeptide of 230 kDa known as bullous pemphigoid antigen 1 or bullous pemphigoid 230, one of the pemphigoid antigens, as a constituent of pemphigoid sera binds to it. The antigens for the subepidermal bullous diseases that have been identified are components of the adhesion complex.
Blistering skin disorders
Ronald Marks, Richard Motley in Common Skin Diseases, 2019
Many inflammatory skin disorders can produce blistering at some stage in their natural history. In the primary blistering diseases, blistering is the major feature of the disease and a direct result of the initial pathological process. Bullous pemphigoid is an uncommon, acute blistering disease occurring mainly in the over-60s. Large, tense, often blood-stained blisters develop over a few days anywhere on the skin surface. Epidermolysis bullosa acquisita shares many similarities to bullous pemphigoid, although it is much more difficult to treat and the blisters tend to affect areas of friction or trauma and the mucosal surfaces more frequently. The blisters themselves should be treated with ‘wet dressings’. Pemphigus causes blistering because of a loosening of desmosomal links between epidermal cells caused by immunological attack. Large doses of systemic steroids are required to control the blistering. Immunosuppressive therapy with azathioprine or methotrexate should be started simultaneou.
Blistering skin disorders
Anupam Das, Sumit Sethi in Concise Dermatology, 2021
Bullous pemphigoid is an uncommon blistering disease that occurs mainly in people over 60 years of age. Large, tense, often bloodstained blisters develop over a few days anywhere on the skin surface. Many inflammatory skin disorders can produce blistering at some stage in their natural history. A gluten-free diet will improve the gastrointestinal lesion and skin disorder in many patients after some months. This is an interesting condition, which may present with clinical features mimicking both bullous pemphigoid and dermatitis herpetiformis. As the name implies, it is an acquired blistering disorder, often affecting middle-aged to elderly individuals, which, at the first sight, resembles bullous pemphigoid. The antibodies in epidermolysis bullosa acquisita bind to the dermal side of the split; in bullous pemphigoid, they bind to the epidermal side. Pemphigus is a group of blistering disorders, which is characterized by acantholysis, i.e. loss of keratinocyte to keratinocyte adhesion, which results in the formation of epidermal blisters in mucosae and skin.
Extended Wear Bandage Contact Lenses Decrease Pain and Preserve Vision in Patients with Epidermolysis Bullosa: Case Series and Review of Literature
Published in Ocular Immunology and Inflammation, 2020
Ramy Rashad, Matthew C. Weed, Nicole Quinn, Vicki M. Chen
Purpose: To demonstrate the therapeutic benefit of extended wear bandage contact lens (BCL) use in patients with epidermolysis bullosa (EB) suffering from recurrent, painful, and slow-to-heal corneal epithelial defects. Methods: Case reports of three patients. Results: We report ophthalmic treatment of three pediatric patients, two with recessive dystrophic EB (RDEB) and one with junctional EB (JEB), who suffered frequently recurrent corneal abrasions and were treated with 30-day extended-wear bandage contact lenses (BCLs), replaced every month for at least 1 year. Pain and frequency of corneal abrasions improved immediately, and the BCLs were well tolerated. Vision was maintained or improved in all cases. Corneal ulcers did not occur while on antibiotic prophylaxis. Conclusions: Continuous and prolonged BCL therapy in patients with EB can be an effective way to immediately alleviate pain, prevent recurrent abrasions, and improve patient quality of life.
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4
Published in Fetal and Pediatric Pathology, 2017
Gozdem Kayki, Davut Bozkaya, Fatih Ozaltin, Diclehan Orhan, Figen Kaymaz, Emine Korkmaz, Sule Yigit
Background: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis. Case report: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. Conclusion: The previously unreported homozygous c.3793+1G>A mutation affecting ITGB4 causes a severe form of junctional epidermolysis bullosa with pyloric atresia and aplasia cutis.
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling
Published in Journal of Dermatological Treatment, 2021
Shuk Ching Chong, Kam Lun Hon, Liz Y. P. Yuen, Paul Cheung Lung Choi, W. G. Gigi Ng, Tor W. Chiu
Background Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). Methods We describe genetics of neonatal EB in Hong Kong. Results Two neonates of consanguineous Pakistani parents had the EB-Pyloric Atresia (EB-PA) variant. One had a 4 kb homozygous deletion of exon 19–25 of the ITGB4 gene, and the other with only a histopathological diagnosis. Both died of sepsis in infancy. Aberrant COL7A1 mutations in the dominant and recessive EB were described. Genetic analysis, together with histopathological classification is important to aid prognosis and counseling. JEB and EB-PA are associated with consanguinity and mortality during infancy. Morbidity and prognosis of the autosomal dominant DEB are optimistic. The autosomal recessive DEB is more severe, with neonatal onset and recurrent blistering. It is also associated with chronicity and malignant changes when the child reaches adulthood. Conclusion Exact genetic diagnosis aids in counseling of the family concerning the prognosis in the affected child and the risk of affected children in future pregnancies.
Related Knowledge Centers
- Basement Membrane
- Keratin
- Immunoglobulin
- Collagen Type Vii
- Genetic Skin Diseases
- Vesiculobullous Skin Diseases
- Skin Abnormalities