laryngoonychocutaneous syndrome

Epidemiology

• confined to the Punjabi Muslim population

Pathology

• epithelial disorder
• exuberant vascular granulation tissue in certain epithelia, especially conjunctiva & larynx

Genetics

• autosomal recessive
• associated with defects in LAMA3

Clinical manifestations

• cutaneous erosions
• nail dystrophy
• vascular granulation tissue in conjunctiva & larynx

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/245660