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Laryngo-Onycho-Cutaneous Syndrome (LOCS).

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  • 1Fatima Hemani Department of Pediatrics, Indus Hospital & Health Network, Karachi, Pakistan.

Pakistan Journal of Medical Sciences
|February 8, 2024
PubMed
Summary

Shabbir Syndrome, a rare genetic disorder affecting skin and nails, can cause life-threatening laryngeal stenosis due to granulation. This case report details a young Pakistani boy with Laryngo-onycho-cutaneous syndrome (LOCS).

Keywords:
Junctional Epidermolysis Bullosa (JEB)Laryngo-onycho-cutaneous syndrome (LOCS)Shabbir’s syndrome

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Area of Science:

  • Genetics
  • Dermatology
  • Otolaryngology

Background:

  • Laryngo-onycho-cutaneous syndrome (LOCS), also known as Shabbir Syndrome, is a rare autosomal recessive disorder caused by LAMA3 gene mutations.
  • It manifests with epidermal abnormalities, including granulation in the eyes, larynx, and nails.
  • LOCS is now classified as a subtype of Junctional Epidermolysis Bullosa (JEB) under OMIM.

Observation:

  • A four-year-old Pakistani boy presented with stridor, fragile skin, and nail granulation.
  • The patient had no reported family history of LOCS.

Findings:

  • This case highlights a rare presentation of LOCS in a child.
  • The genetic basis of LOCS involves mutations in the LAMA3 gene, affecting epidermal integrity.

Implications:

  • Early recognition of LOCS is crucial due to the risk of severe complications like laryngeal stenosis.
  • This case underscores the importance of considering rare genetic syndromes in pediatric patients with complex symptoms.
  • Further research into LAMA3 gene mutations and LOCS pathogenesis is warranted.