Eye involvement in inherited epidermolysis bullosa: Experience of the National Epidermolysis Bullosa Registry

Imunomapeamento nas epidermólises bolhosas hereditárias

“…Subclassification is important in determining the risk of mucosal involvement, the development of neoplasias and premature death, and in providing genetic counseling. [10][11][12][13][14] The most commonly requested laboratory test is anatomopathology, which is performed on biopsied material that includes the entire blister. Although this test is inconclusive for a diagnosis of epidermolysis bullosa, it is useful to differentiate it from other bullous dermatoses.…”

Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa, Presenting as an Ulcer That Appears to Be Filled with Granulation Tissue

“…2 The cumulative risk of developing cutaneous SCCA by age 40 in a patient with the H-S type is 53%, while it is 27% for a patient with the non-H-S type. 1 In contrast, for patients without EB, the lifetime risk of developing cutaneous SCCA is 9-14% for men and 4-9% for women. 3 In patients without EB, SCCA is often actinically induced and typically present as a hyperkeratotic skincolored papule, nodule, or plaque arising on sun-damaged skin.…”

“…In fact, granulation tissue is a feature in 10-25% of patients with both H-S and non-H-S types of RDEB in the National EB Registry database and in 50-75% of those with Herlitz junctional EB. 1 As a result, SCCAs that do not show hyperkeratosis can be very difficult to differentiate from ordinary noncancerous wounds in EB patients. Our patient showed that, in RDEB, any ulcer that appears to contain heapedup granulation tissue, especially those on the lower extremities, should be biopsied to rule out SCCA.…”

“…S quamous cell carcinoma (SCCA) is an important cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB), especially those with the more severe forms. 1 Early recognition depends on familiarity with the unusual features with which these cancers can present in RDEB patients. We report a patient with RDEB in whom SCCA presented as an ulcer that appeared to be filled with granulation tissue.…”

Surgical management of infantile cataracts in dystrophic epidermolysis bullosa

“…[1][2][3][4] Only one case of cataract surgery in an adult with EB has been reported. 5 The authors found intraoperative corneal and conjunctival fragility and postoperative eyelid blistering, 5 whereas we observed none of these complications.…”