keratitis-ichthyosis-deafness syndrome (KID syndrome)

Pathology

ectodermal dysplasia

Genetics

• autosomal dominant
• associated with defects in GJB2

Clinical manifestations

• association of hyperkeratotic skin lesions with vascularizing keratitis & profound sensorineural hearing loss
• clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating & dysplastic finger & toenails

More general terms

• ectodermal dysplasia
• genetic syndrome (multisystem disorder)

Additional terms

• ichthyosis hystrix-like with deafness syndrome (HID syndrome)

Database

• OMIM: https://mirror.omim.org/entry/148210