KID syndrome Flashcards
1
Q
KID syndrome sketch (Keratitis, Ichthyosis, deafness)
A
- KID will be the child of Mendes de Costa (GJB3) as this gene mutation is of GJB2
- like his dad he has PPK (stippled PPK) and is also autosomal dominant
- his dad keeps trying to call him to look at the map but he is not hearing anything because of his non-progressive sensorineural deafness (cochlear implants can help)
- the kid has keratotic plaques on the face and extremities and is wearing a bandana to cover his baldness (alopecia)
- He also has the key to discovering the “secret follicular triad islands” that his dad has been searching for. (acne conglobata, dissecting cellulitis of the scalp and HS)
- He is trying to tell this to his dad, but is tongue tied because of the SCC’s of skin and tongue (unique to KID)
- He also cannot see where his dad is to show him what he has because of his progressive bilateraal vascularized keratitis leading to blindness
- he looks quite sick because of his recurrent bacterial and fungal infections
