Laryngeal and ocular granulation tissue formation in two Punjabi children: Logic syndrome

Ainsworth, JR; Spencer, A; Dudgeon, J. A.; Geddes, N.K.; Lee, W R

doi:10.1038/eye.1991.132

Cited by 16 publications

(12 citation statements)

References 2 publications

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“…3). 16–18 Recently we identified the pathogenic mutation within the LAMA3 gene that causes LOC syndrome. The LAMA3 gene consists of 76 exons spanning ≈ 318 kb on chromosome 18q11.2.…”

Section: Loss Of the Laminin α53a N Terminus: Laryngo‐onchyo‐cutaneomentioning

confidence: 99%

The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses

Hamill

McLean

2005

Clin Exp Dermatol

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Laminin 5 (kalinin/epiligrin/nicein) is an essential structural component of the dermal-epidermal junction, composed of three polypeptide subunits: laminin alpha3, beta3 and gamma2. Studies of the inherited skin fragility disorder junctional epidermolysis bullosa (JEB) have suggested that the major role of this heterotrimeric protein is to act as an adhesive ligand essential for binding the epidermis to the underlying dermis and thus maintaining the integrity of the skin. Protein interaction studies have shown that the C terminus of the alpha3 subunit binds to a range of integrin complexes depending on the motility status of keratinocytes. This allows laminin 5 to interact with either hemidesmosomes or the actin cytoskeleton. Recently we have reported that the absence of the N-terminal region of laminin alpha3a in laryngo-onchyo-cutaneous syndrome causes excessive granulation tissue production at wound sites. As granulation tissue production is also a problem in JEB, this implicates laminin 5 in control of this wound healing response.

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“…3). 16–18 Recently we identified the pathogenic mutation within the LAMA3 gene that causes LOC syndrome. The LAMA3 gene consists of 76 exons spanning ≈ 318 kb on chromosome 18q11.2.…”

Section: Loss Of the Laminin α53a N Terminus: Laryngo‐onchyo‐cutaneomentioning

confidence: 99%

The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses

Hamill

McLean

2005

Clin Exp Dermatol

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“…1 It is characterised by proliferation of mucosal and dermal granulation tissue and progressive scarring of the conjunctiva and cornea is a common cause of blindness in LOC syndrome. 2 To date no effective treatment has been demonstrated to manage the ocular surface disease in this condition and repeated excision of granulation tissue has been suggested to exacerbate progression of the disease.…”

mentioning

confidence: 99%

Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantation

Moore

Shah²,

Kumar³

et al. 2005

British Journal of Ophthalmology

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“…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.…”

Section: Introductionmentioning

confidence: 99%

“…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).…”

Section: Introductionmentioning

confidence: 99%

“…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)(2)(3).…”

Section: Introductionmentioning

confidence: 99%

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

2013

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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.

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Laryngeal and ocular granulation tissue formation in two Punjabi children: Logic syndrome

Cited by 16 publications

References 2 publications

The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses

The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses

Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantation

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

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