Esophageal involvement in epidermolysis bullosa dystrophica: Clinical and roentgenographic manifestations

Epidermolysis bullosa is a rare hereditary mechanobullous skin disorder. Four patients with esophageal involvement are reported. These cases and review of reported cases of epidermolysis bullosa dystrophica-recessive (EBD-R) showed distinct clinical and roentgenographie features of esophageal involvement: diffuse inflammatory changes, motility disorders, small blisters or bullae seen as constant nodular-filling defects, esophageal ulcers, scars, pseudodiverticula, transverse and circumferential webs, various size strictures, shortening of the esophagus with development of traction hiatal hernia and gastroesophageal reflux, perforation, and complete obstruction of the esophageal lumen. Dysphagia is reversible when caused by bullae or webs and permanent when due to cicatrizing strictures. The strictures may remain unchanged in size for many years despite variations in dysphagic symptoms.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/48155/1/261_2005_Article_BF01948101.pd

Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression

Dominant-negative mutations in the KRT1 and KRT10 genes cause epidermolytic hyperkeratosis, a rare form of ichthyosis sometimes associated with palmoplantar keratoderma. Although there is no permanent cure, some patients improve on retinoid therapy. More knowledge is needed, however, about the mechanism of action of retinoids and the genotypic/phenotypic correlations in this disease. Thirteen patients from 10 families with generalized disease and 2 sporadic patients with nevoid lesions were studied, probably representing most of the patients in Sweden and Norway. All patients, except one nevoid case, were known to have KRT1 or KRT10 mutations. Those with mutated keratin 1 (K1) invariably had associated keratoderma (n=6). In contrast, only 1 of 7 patients with K10 mutations had this problem (p = 0.0047). Five out of 6 patients with KRT10 mutations benefited from treatment with oral acitretin (5-25mg/day) or topical tretinoin/tazarotene, but none of the patients with KRT1 mutations derived any benefit. Quantitative analysis of K1 and K10 mRNA in skin biopsies obtained before and after retinoid therapy (n=8) showed no consistent down-regulation of mutated keratin that would explain the therapeutic outcome. Instead, the mRNA expression of K2e (a normal constituent of the upper epidermis) diminished especially in nonresponders. In contrast, K4 mRNA and protein (marker of retinoid bioactivity in normal epidermis) increased in almost all retinoid-treated patients. In conclusion, our study confirms a strong association between KRT1 mutations and palmoplantar keratoderma. Retinoid therapy is particularly effective in patients with KRT10 mutations possibly because they are less vulnerable to a down-regulation of K2e, potentially functioning as a substitute for the mutated protein in patients with KRT1 mutations

Generalized atrophic benign epidermolysis bullosa : either 180-kd bullous pemphigoid antigen or laminin-5 deficiency

Contains fulltext : 23941.PDF (publisher's version ) (Open Access

Atendimento multidisciplinar do paciente ortodôntico com epidermólise bolhosa Multidisciplinary management of the orthodontic patient with epidermolysis bullosa

O termo epidermólise bolhosa descreve um grupo variado de doenças hereditárias, crônicas, não inflamatórias, epiteliais e da mucosa, que são caracterizadas por excepcional fragilidade e reduzida resistência após trauma moderado. Esta doença é classificada em forma simples, juncional ou distrófica, com pelo menos 23 subtipos, e é uma doença rara que afeta toda a população, qualquer grupo racial e igualmente homens e mulheres. OBJETIVO: os autores relatam problemas sistêmicos e bucais associados à epidermólise bolhosa, norteando atitudes clínicas multidisciplinares quando o paciente necessita de tratamento ortodôntico.<br>The term epidermolysis bullosa describes a varied group of hereditary, chronic, non-inflammatory diseases of the skin and mucosa, which are characterized by remarkable skin fragility and reduced resistance after moderate trauma. This disease is classified as simple, junctional or dystrophic form, with at least 23 subtypes, and is a rare disease found in all populations and racial groups, equally affecting males and females. AIM: the authors reports systemic and oral problems associated with epidermolysis bullosa, guiding the multidisciplinary clinical attitudes when the patient needs orthodontic treatment