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Dermatological Mimics of Physical Abuse
Published in B. G. Brogdon, Tor Shwayder, Jamie Elifritz, Child Abuse and Its Mimics in Skin and Bone, 2012
B. G. Brogdon, Tor Shwayder, Jamie Elifritz
Junctional epidermolysis bullosa is a severe subtype of the above entity. Here the bullous separation takes place at the deepest layer within the basement membrane of the integument36 (Figure 5.35), mimicking a massive immersion burn to both lower extremities of a 6-week-old African-American baby (Figure 5.35).
Leading edge: emerging drug, cell, and gene therapies for junctional epidermolysis bullosa
Published in Expert Opinion on Biological Therapy, 2020
Allison R. Keith, Kirk Twaroski, Christen L. Ebens, Jakub Tolar
Epidermolysis bullosa (EB) is an inherited group of genetic disorders that primarily affect the skin. Of this group, junctional epidermolysis bullosa (JEB) is one of the rarest and severe types – affecting three in one million children [1]. JEB is caused by the absence or functional loss of heterotrimer laminin-332 (LM332), Type XVII collagen (C17), or integrin α6β4 [2–4]. Mutations in LM332 subunits that result in complete protein loss are characterized as ‘generalized severe’ (formerly Herlitz-type), while mutations in C17 or reduced or dysfunctional LM322 result in ‘generalized intermediate’ JEB (formerly non-Herlitz-type; Figure 1(b)). Mutations affecting integrin α6β4 lead to JEB with pyloric atresia (JEB/PA; Figure 1(b)) [5]. There is a notable lack of clear genotype/phenotype correlation in JEB, which has pushed the field to prioritize specific mutations and clinical descriptors over broad phenotypic classifications [6].
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
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited connective tissue disorder characterized by blister formation in skin and mucosal membranes in response to rubbing or frictional trauma (1–9). Congenital 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; intraepidermal skin separation), junctional epidermolysis bullosa (JEB; skin separation in lamina lucida or central basement membrane zone BMZ) and dystrophic EB or epidermolysis bullosa dystrophica (DEB or EBD; sublamina densa BMZ separation) (1–3,5–8). Nowadays, prenatal genetic diagnosis has become possible (10). EBS is usually is associated with little or no extracutaneous involvement, while the more severe junctional, and dystrophic forms of EB are associated with significant multiorgan system disease, involving the mucosal surface of the mouth, esophagus, stomach, intestines, upper airway, bladder, and the genitals (11). The fundamental pathology of EB is due to an increase in collagenase activity, leading to collagen degeneration and hence splitting of various epidermal layers or at the transition between epidermis and dermis. DEB is due to mutations in the COL7A1 gene, which encodes collagen VII, and and its assembly into anchoring fibrils. Traditionally, the coexistence of congenital pyloric atresia (PA) and EB had been classified as a form of JEB (12). However, current evidence based on molecular evaluation of patients suggested that the EB-PA association is a distinct entity of hemidesmosomal variant (11,13). Genetic associations have been linked to ITGB4 (integrin-beta-4 gene), ITGA6 (integrin-alpha-6 gene) or PLEC1 (Plectin) mutations (14). Most congenital EB are associated with high morbidity and significant mortality. The age and etiology of deaths of the subtypes of EB varies (15–17). Infants with EB may succumb as a result of sepsis (4,15–17). Beyond puberty, premature deaths are often due to malignancies (15–17). Registries of EB have been set up in many countries to study this heterogeneous disease (15,18–22). In this report, we described a series of congenital EB and their genetics.
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
A 6-month old boy with severe junctional epidermolysis bullosa (JEB) presented with an 8.0 mm diameter abrasion of the right eye. After 24 hours of treatment with erythromycin ointment, the lesion increased in size. His parents reported symptoms of tearing, irritability, inability to open the eye, decreased willingness to eat, sleep and play. Due to the large size of the abrasion and his symptoms of pain, a BCL was placed and erythromycin was continued. He immediately appeared comfortable. He returned every 2 days for examination, with resolution of the abrasion after 10 days. The BCL was removed after 14 days in accordance with standard therapy. Over the next 8 months, he presented every 2–4 weeks with large abrasions in the right eye and was treated similarly. At 1 year of age, his cornea appeared opacified centrally with adjacent trace conjunctival injection. Infection was not suspected at the time. Because of his frequently recurrent symptoms, a BCL, AIR OPTIX NIGHT & DAY AQUA lotrafilcon A, 24% water content (Alcon, Fort-Worth, Texas), was placed in the right eye with prophylactic erythromycin ointment prescribed twice daily. The patient returned monthly for BCL exchange. After 2 months, the corneal opacification resolved. Extended BCL wear was discontinued after 6 months. At age 2½ years, he presented with frequent recurrent abrasions every 2–4 weeks, lasting up to 10 days per episode, affecting both eyes. His parents requested BCLs to decrease his pain and to allow the epithelium to heal and stabilize. Moxifloxacin HCl 0.5% ophthalmic solution was prescribed twice daily for prophylaxis. Discontinuation of BCLs was attempted multiple times, but abrasions reoccurred within days after stopping lenses. Between ages 6 to 7, moxifloxacin prophylaxis was discontinued due to concern of breeding resistance. During these years, he developed 2 corneal ulcers, 7 months apart, each effectively treated with fortified tobramycin 1.4% and vancomycin 2.5% ophthalmic solutions for 7–9 days. At 7 years of age, trace paracentral corneal scarring was present with a clear visual axis and retinoscopy revealed +1.50 diopters of oblique astigmatism OD. Best corrected VA had declined to 20/50 OD, likely due to refractive amblyopia. Atropine was used twice weekly OS for 4 months, which improved VA OD to 20/25. At present, our patient is 9 years of age and doing well with an uncorrected VA of 20/25 (right eye) and 20/20 (left eye).