Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

“…The so‐called KID syndrome is a congenital disorder of the ectoderm that affects not only the epidermis, but also other ectodermal tissues such as the corneal epithelium 20 and the inner ear 21 . The KID acronym does not accurately define this entity as the skin condition does not always show ichthyosis, but rather keratodermatous skin 22 .…”

Clinical, etiopathogenic, and therapeutic aspects ofKIDsyndrome

“…There are also reports of other ocular, dental, hepatic, and metabolic defects. [17][18][19][20][21][22] This subtype is caused by homozygous mutation in the AP1B1 gene at chromosomal region 22q12.2, as p.Glu14Argfs*5, and a deletion of 75 kb that removes the tentative promoter as well as the first two exons of AP1B1 gene, so it is predicted to be a null at the protein level 17 and other homozygous mutation as p.Glu792*, 18 or compound heterozygous in a male patient as p.Cys144Arg inherited from his unaffected mother and p.Leu779Serfs*26 inherited from his unaffected father. 18…”

Ichthyosis, Deafness, and Hirschsprung's Disease

“…About three-fourths of patients show vascularization of the comea (8), which may progress to blindness. According to Cremers et al (9), the onset of kcratitis may be delayed as late as the second decade. Most patients have normal intelligence, but physical growth may be affected.…”