Version May 2024
| Site | Presentation and associated findings |
| Eyes | Ligneous conjunctivitis (very common) with variable severity ranging from mild pseudomembrane formation to loss of vision. |
| Mouth | Ligneous gingivitis and tonsillar lesions. Often painless. May cause loss of bone and dentition. |
| Ears | Pseudomembranes may form in the middle ear. May present with chronic otitis media and/or hearing loss. |
| Respiratory tract | Pseudomembranes may form in the nose, larynx, vocal cords, and/or tracheobronchial tree. May cause loss of voice, stridor, chronic cough, airway obstruction (which can be fatal), pneumonia, or pneumothorax. |
| GI tract | May be present with ulcers or abdominal pain or as IBD or IBS. GI bleeding may occur as mucosa is eroded and lesions slough. |
| Kidneys | Obstructive hydronephrosis and impaired kidney function may occur. Kidney involvement is rare; may be seen in siblings with multiple organ systems affected. |
| Urogenital tract | Pseudomembranes may form in the ureters or on the ovaries, fallopian tubes, endometrium, cervix, or vagina. Pseudomembranes may be passed vaginally. Ureteral obstruction, dysmenorrhea, infertility, dyspareunia, or abnormal uterine bleeding may occur. |
| CNS | May present with Dandy-Walker malformation and/or occlusive hydrocephalus. Shunting may be required; recurrent shunt obstruction and/or CSF ascites may occur. |
| Skin | Wound healing may be severely impaired. Juvenile colloid milium (JCM) may be present, with small yellow/brown papules in sun-exposed areas, usually seen in children. |
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