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Brendon William Hung Chow Lee, Samuel Dance, Wei Melbourne, Kim Tran, Dedee Murrell, Minas T Coroneo; Use of thalidomide and doxycycline in the management of junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome (JEB-LOC).. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3472.
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Junctional epidermolysis bullosa laryngo-onycho-cutaneous (JEB-LOC) is an overlap multisystem disorder characterised by extensive granulation tissue formation in the dermis, submucosa, larynx, and eyes. Ocular complications in JEB-LOC remain devastating and recalcitrant to many available treatment modalities.
We report the results of an interventional clinical study on the novel use of oral thalidomide and doxycycline in a case of an 18-year-old male JEB-LOC. Ocular and cutaneous tissue samples were collected pre- and post-treatment and underwent histopathological and immunofluorescence analysis.
Ocular involvement was observed to begin in this male at 15 months of age with eyelid ulcerations and granulation tissue formation in the conjunctiva bilaterally. By 13 years of age, this had progressed to recurrent, painful corneal erosions with associated cicatrising conjunctivitis leading to symblepharon, epiphora, severe photophobia, and visual loss (Right: 1/60, Left: 2/36). This occurred despite multidisciplinary management with numerous ocular surgical excisions and maximal medical therapy of antibiotics, anti-inflammatory medications, ocular lubricants, and steroids. He was commenced on thalidomide (50mg/day) and doxycycline (100mg/day) at 15 years of age. Within 3 months, he experienced significant improvement of his photophobia, epiphora, and pain. There was also significant improvement of his vision (Right: 6/12, Left: 6/18), accelerated physical growth, and no new cutaneous lesions formed. However, wary of long-term safety, treatment was ceased temporarily which resulted in a resurgence of symptoms. This was controlled by reintroduction of the therapy every second day, which was well tolerated and monitored by nerve conduction studies. Immunofluorescent and histopathological analysis demonstrated significant decrease in inflammatory marker (tumour necrosis factor) and laminin V expression in both ocular and cutaneous tissues after treatment initiation.
Oral thalidomide and doxycycline therapy may have potential in managing the cutaneous and ocular complications of JEB-LOC. Its use may be warranted in patients with other forms of epidermolysis bullosa refractory to treatment.
This is a 2021 ARVO Annual Meeting abstract.
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