Keratitis, Ichthyosis, and Deafness Syndrome With Glycogen Storage

HID and KID syndromes are associated with the same connexin 26 mutation

“…Specific changes in HID syndrome were reported to consist of reduction of tonofilaments in the epidermis and excess formation of so‐called ‘mucous granules’ 1 and accumulation of this undefined mucous material in the intercellular spaces of the epidermis. However, there is a report of similar abnormalities in patients diagnosed with KID syndrome 28 . Failure to find them in other KID patients may be a sampling artefact as the erythrokeratoderma has a regional distribution, with some skin areas being more severely affected than others.…”

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…”

Keratitis-ichthyosis-deafness syndrome and carotenaemia

“…2 A recent study has shown that the disease is caused by mutation of the connexin 26 gene. 4 We report the first case of KID syndrome occurring in association with carotenaemia. 4 We report the first case of KID syndrome occurring in association with carotenaemia.…”

“…Hearing loss is mainly neurosensoy. 4 Three types of carotenaemia have been described (Table 1): 10 (i) carotenaemia may arise from excessive dietary intake of carotene containing foods. 5 Hearing loss is always present, with variable degrees of compromise.…”