[MIM 245 660]

(Shabbir syndrome, LOGIC syndrome)

Very rare; especially in families from Punjab (India, Pakistan). Autosomal recessive autosomal transmission of a mutation of the LAMA3 gene (18q11.2). Form of non-Herlitz type junctional Epidermolysis Bullosa (see Epidermolyses bullosa) mainly located on the head and neck and sometimes called JEB-LOC (Junctional Epidermolysis Bullosa - Laryngo-Onycho-Cutaneous).

Clnical presentation:

-        very early hoarseness of the voice (from the first weeks of life): epiglottis lesions, subglottic stenosis, glottic membrane (web)

-        chronic dystrophic lesions (bleeding crusts) of the skin of the face and of the nails

-        conjunctival lesions evolving to symblepharon, palpebral occlusion or even blindness.

The dental enamel is abnormal. The laryngeal obstruction gradually worsens and life expectancy usually does not exceed infancy.

Treatments (disappointing results): antibiotics, corticosteroids, dapsone, thalidomide.

Anesthetic implications:

obstruction of the airways and especially of the larynx; intubation with a tube of smaller size than expected, possibly laser surgery to clear the larynx; avoid friction on the skin as it can cause bullous skin lesions.

References :

-        Hodges UM, Lloyd-Thomas A.
Anaesthesia for airway obstruction in laryngo-onycho-cutaneous syndrome.
Anaesthesia 1993; 48: 503-6.

-        Kapoor D, Jafra A, Singhal SK, Singh M.
Anaesthetic management of a child with laryngo-onycho-cutaneous syndrome.
Anaesthesia Cases 2014; 2: 3-7.

Updated: January 2021