Junctional epidermolysis bullosa OEB) is an au toso mal recessive disorder characterized by marked fragility of skin and mucosa! membranes. Although there are several subdivisions of JEB, two broad categories exist: the lethal (Herlitz) type, in which an infant usually dies at birth or shortly thereafter with severe blistering, and the nonlethal type that usually has less severe blistering and a normal life span.
At the microscopic level, blisters in JEB occur between the basal cell plasma membrane and the lamina densa. Defective hemidesmosomes,1 cellular adhesive char acte ris ries,2 and kalinin3 have all been implicated in the pathogenesis of this disorder.
Eye involvement in JEB has been reported,4"6 and consists mainly of recurrent corneal erosions, corneal scarring, and conjunctiva! tethering. Other findings have included blepharitis and eyelid blistering. To our knowledge, the ophthalmic literature has not highlighted cases of JEB in neonates.
Fig: Fingernails of a 4-month-old boy with JEB.
The patient is a 4-month-old boy, hospitalized with a 2-day history of increasing redness in his left eye. There was no prior ocular history. The mother and house staff denied any trauma to the eye.
The child was born full term, a normal spontaneous vaginal delivery, to parents who are first cousins. At day 5 of life, he began vomiting with poor feeding and was diagnosed with pyloric atresia (PA) for which he underwent gastrojejunostomy. Concomitandy, he was found to have massive hydroneph rosis and a renal biopsy revealed congenital nephrotic syndrome.
Shordy thereaftet, at age 1 month, he began to develop blisters on his fingertips, and his fingernails began to erode. Skin biopsies for electron microscopy and immune mapping confirmed a diagnosis of JEB with PA.
Examination revealed an irritable baby with bullae on his tongue and fingertips. He had dystrophic, hyperkeratotic fingernails and toenails with loss of the left thumbnail (Figure). Ophthalmic exam revealed central, steady, maintained vision in each eye. Pupils were equal and extraocular movements were intact.
The anterior and posterior segments of the right eye were within normal limits. The left eye had marked diffuse conjunctival injection without discharge, sympblepharon, or vesicles. Fluorescein stained the entire cornea. The remainder of the anterior exam was normal, and dilated fundus examination was unremarkable.
JEB is a rare, but potentially devastating disease. Furthermore, JEB in association with PA has emerged as a distinct entity with identified markers, such as a6-ß4 integrin mutations.7"5 The cutaneous lesions in these patients are generally diought to be like other JEB subtypes, however the ocular findings of JEB and JEB-PA in the neonatal period are not well known. We report a 4 month old with JEBPA and unilateral corneal epithelial loss.
Lin et al comprehensively described eye findings in 204 patients with epidermolysis hullosa, 36 of whom had JEB.4 Their patients (ages 9-21 years) were noted to have mainly corneal abrasions and cornea! scars. McDonnell et al described eye involvement in five patients (ages 22-66 years) with similar findings including limbal broadenings.5 One patient in this series reported red, watery eyes shortly after birth, which worsened as an adolescent. Our case of a 4 month old provides an early glimpse into the reported histories of adults who suffered recurrent corneal problems. We cannot speculate whether die JEB-PA variety in particular heralds more severe eye involvement.
This patient responded well to bacitracin ophdialmic ointment applied four times daily. No marked delay occurred in reepithelialization. The overall prognosis in this child remains poor. We recommend that neonates with JEB should have early ophdialmic consultation to identify and treat any incipient ocular involvement that may lead to visual compromise.
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