|Year : 2023 | Volume
| Issue : 2 | Page : 603
Clinical manifestations of laryngo–onycho–cutaneous syndrome: Shabbir syndrome
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India
|Date of Submission||31-Oct-2022|
|Date of Acceptance||16-Feb-2023|
|Date of Web Publication||28-Apr-2023|
Dr. R P Centre, AIIMS, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
Keywords: LOC Syndrome, recurrent ulceration, Shabbir syndrome, symblepharon
|How to cite this article:|
Mahajan A. Clinical manifestations of laryngo–onycho–cutaneous syndrome: Shabbir syndrome. Indian J Ophthalmol Case Rep 2023;3:603
An 8-year-old female child, born out of consanguineous marriage, was brought to our center with complaints of fleshy growth in both eyes. The parents gave a history of multiple recurrent ulcerations which healed slowly with a prominent scar. On examination, she had a pink fleshy mass arising from the palpebral conjunctiva of both eyes, hoarseness of voice, difficulty breathing (stridor), notched teeth, hypertrophic scars on her face and elbow, and dystrophic nails with onycholysis [Figure 1]. She was diagnosed case of laryngo–onycho–cutaneous syndrome (LOCS). We managed her by starting fluorometholone drops for eyelid granulation tissue and planned for surgery for residual disease after 4 weeks. In view of stridor and suspicion of laryngeal involvement, she was referred to the ENT department where she underwent a tracheostomy.
|Figure 1: A patient of laryngo–onycho–cutaneous syndrome with (a) Perioral ulceration and granulation tissue formation at an angle of mouth. Multiple healed atrophic scars are visible on the cheek and face. Notching of upper incisors present. (b) Conjunctival polyp-like growth of granulation tissue on upper palpebral conjunctiva. (c) Skin ulceration with granulation tissue at the elbow (friction-bearing area). (d) Dystrophic nails with onycholysis due to nail bed granulation tissue formation|
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| Discussion|| |
Laryngo–onycho–cutaneous (LOC) was first described by Shabbir in 1986 in Muslim families. It is a rare autosomal recessive disorder presenting as a localized form of junctional epidermolysis bullosa (JEB-LOC syndrome) with mutations in the α3 chain of Laminin 332. The conjunctival lesions usually start temporally, with polyps, symblepharon formation, and adhesions due to exuberant granulation tissue growth which can result in total palpebral occlusion.
Thalidomide has been tried to reduce granulation tissue along with bevacizumab injections, mitomycin C, dexamethasone, etc., Surgical release with amniotic membrane reconstruction is used to manage symblepharon.
Life-threatening laryngeal stenosis is frequently associated and needs urgent attention by an otolaryngologist. However, the prognosis is poor as most cases succumb to respiratory complications.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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