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LOC syndrome

Orpha number ORPHA2407
Synonym(s) LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Laryngo-onycho-cutaneous syndrome
Shabbir syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q81.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.

Prevalence is unknown. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India.

The condition is present at birth. Characteristic cutaneous findings are transient blisters leaving slowly healing erosions with exuberant granulation tissue formation, mainly localized to the head and neck, hands, feet, elbows and knees. Extracutaneous manifestations are always observed: the progressive laryngeal involvement frequently leads to fatal respiratory obstruction in infancy, and the chronic conjunctival lesions cause symblepharon formation, and also total palpebral occlusion and blindness. Enamel hypoplasia is also always present and nail dystrophies are common.

The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3).

LOC syndrome follows an autosomal recessive pattern of inheritance.

Prognosis is poor.

Expert reviewer(s)

  • Dr Giovanna ZAMBRUNO

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Detailed information

Emergency guidelines
  • FR (2012,pdf)
Anesthesia guidelines
  • EN (2011,pdf)
Review article
  • EN (2010)
Clinical practice guidelines
  • EN (2014)
Article for general public
  • FR (2012,pdf)
Clinical genetics review
  • EN (2014)
Disability factsheet
  • FR (2013,pdf)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.