Clinical manifestations of laryngo–onycho–cutaneous syndrome: Shabbir syndrome

Asmita Mahajan

doi:10.4103/IJO.IJO_2888_22

PHOTO ESSAY

Year : 2023 | Volume : 3 | Issue : 2 | Page : 603

Clinical manifestations of laryngo–onycho–cutaneous syndrome: Shabbir syndrome

Asmita Mahajan
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

Correspondence Address:
Asmita Mahajan
Dr. R P Centre, AIIMS, New Delhi - 110 029
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_2888_22

Abstract

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

How to cite this URL:
Mahajan A. Clinical manifestations of laryngo–onycho–cutaneous syndrome: Shabbir syndrome. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 10];3:603. Available from: https://www.ijoreports.in/text.asp?2023/3/2/603/374995

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.^[1] 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.^[2],[3] 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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Cohn HI, Murrell DF. Laryngo-onycho-cutaneous syndrome. Dermatol Clin 2010;28:89–92.
2.	Strauss RM, Bate J, Nischal KK, Clayton T, Gooi J, Darling JC, et al. A child with laryngo–onycho–cutaneous syndrome partially responsive to treatment with thalidomide. Br J Dermatol 2006;155:1283–6.
3.	Prodinger C, Chottianchaiwat S, Mellerio JE, McGrath JA, Ozoemena L, Liu L, et al. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review. Pediatr Dermatol 2021;38:1094–101.