Aggressive periodontitis in a young Pakistani female with laryngo-onycho-cutaneous syndrome

Abstract

IntroductionLaryngo-onycho-cutaneous (LOC) syndrome is a homozygous recessive condition characterized by proliferation of dermal and mucosal granulation tissue and progressive scarring of the conjunctiva and cornea (1). LOC syndrome has been associated with mutation in the gene encoding laminin alpha-3a on chromosome 18q11.2 (2). LOC syndrome was initially described as an inherited disease that occurred exclusively in children of the Punjab province of Pakistan (2). LOC syndrome usually starts within two-weeks after birth and the affected children present with hoarseness in voice, dystrophic changes in nails, chronic bleeding, crusted lesions of facial skin and corneal scarring leading to blindness (1,2). The ulcers do not respond to medications including antibiotics, anti-tuberculosis drugs, dapsone or steroids. Respiratory tract complications of LOC syndrome are associated with erosions and subsequent formation of granulation tissue causing airway obstruction that may lead to premature death (3). Orofacial manifestations of LOC syndrome include enamel hypoplasia, dental caries, gingival ulcerations, mucosa-covered nodules of the hard palate, and erosion of the lower lip and nares (1-3).To our knowledge, there are no reports in the indexed literature of the periodontal status of patients with LOC syndrome. In the present study, we describe a severe case of aggressive periodontitis in a young AmericanPakistani female patient affected by LOC syndrome. Case ReportIn 2008, a 19-year-old American-Pakistani female and her legal guardian reported to the Department of Pediatric Dentistry at Eastman Institute for Oral Health at the University of Rochester NY, USA. The patient was referred from the Department of Pediatric Hematology of the University of Rochester Medical Center. The patient's chief complaints, as reported by her guardian, were pain in teeth and difficulty with chewing due to tooth mobility.

c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms

“…1 The early onset of this syndrome is characterized by a hoarse cry soon after birth, development of granulated tissue in nails bed, mucosal regions, larynx and ocular region, delayed tooth enamel formation. [1][2][3][4][5][6] Later, granulation tissue may also develop in epiglottis and trachea, and in severe cases death occur because of difficulty in breathing. 7 McLean et al 7 identified the molecular basis for LOC syndrome and linked this disease to Laminin Alpha-3 (LAMA-3) by homozygosity mapping.…”