Shabbir syndrome

Contributor: Gordon K. Klintworth
Shabbir syndrome (Laryngo-onycho-cutaneous syndrome,  LOGIC syndrome, Laryngeal and Ocular Granulation In Children from the Indian subcontinent) is a syndrome that was first described by Shabbir et al. in Punjabi families in 1986. Within the two week of birth hoarseness becomes apparent without an obvious lesion of the larynx. In some children the cry is weak from birth. Other manifestations include dystrophic nails, deformed teeth (hypoplastic dental enamel, sometimes amyelgenesis imperfecta), chronic bleeding, and crusted facial cutaneous lesions. Scarring of the conjunctiva is also a feature. The skin and mucous membranes surfaces are susceptible to trauma. The condition has only been identified in Muslim families of Punjabi origin. The vocal cord is thickened and granulation tissue is evident in the affected tissues. A transmission electron microscope study has shown abnormal hemidesmosomes. The condition is thought to be an inherited defect in the lamina lucida of the basement membrane of the epidermis and may be distinct type of epidermolysis bullosa. It is caused by a mutation in the LAMA3 gene, Chronic cutaneous ulceration occurs and death in childhood is common.