KID Syndrome Clinical CharacteristicsOcular Features: Superficial punctate keratopathy leads to recurrent corneal erosions and eventually scarring and neovascularization. Progressive opacification requiring PK often occurs. These individuals may also suffer loss of eyebrows and eyelashes with trichiasis and thickening of the lid margins. Corneal erosions and keratoconjunctivitis sicca cause incapacitating symptoms. Systemic Features: The skin may be diffusely erythematous and scaly. This often becomes patchier with well-demarcated areas especially in skin folds of the neck, axillae, and groin. Older patients with likely autosomal recessive disease have hepatomegaly and may suffer cirrhosis and liver failure. Short stature and mental retardation have also been noted. The hearing loss is neurosensory in type. Epidermal glycogen deposition has been found in one patient with the presumed recessive disorder. In the presumed autosomal dominant disease, growth failure, mental retardation and liver disease do not seem to be present. However, oral and skin squamous cell carcinomas, as well as malignant pilar tumors of the scalp may lead to early death. GeneticsIt is uncertain if one or more entities are represented by the KID syndrome. Many cases are sporadic but others seem to be transmitted in autosomal recessive or autosomal dominant patterns. The locus of the mutation is unknown in the recessive form. In the dominant form, a mutation has been found in the connexin-26 gene, GJB2, gene located at 13q12.11. See Hereditary Mucoepithelial Dysplasia (158310) for a somewhat similar but unique genodermatosis. Another is IFAP (308205) but cataracts and hearing loss are not features. Pedigree: Autosomal dominantAutosomal recessiveTreatmentTreatment Options: The use of ocular lubricating preparation may supply significant relief from symptoms but scarring may eventually necessitate penetrating keratoplasty. The threat of skin cancers and fatal hepatic failure requires monitoring throughout life. ReferencesArticle Title: Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005 Feb;112(2):e1-6 (electronic record). PubMed ID: 15691545 Two patients with severe corneal disease in KID syndrome Sonoda S, Uchino E, Sonoda KH, Yotsumoto S, Uchio E, Isashiki Y, Sakamoto T. Two patients with severe corneal disease in KID syndrome. Am J Ophthalmol. 2004 Jan;137(1):181-3. PubMed ID: 14700667 Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome Wilson GN, Squires RH Jr, Weinberg AG. Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. Am J Med Genet. 1991 Sep 1;40(3):255-9. PubMed ID: 1951425 Read more about KID Syndrome
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005 Feb;112(2):e1-6 (electronic record). PubMed ID: 15691545
Two patients with severe corneal disease in KID syndrome Sonoda S, Uchino E, Sonoda KH, Yotsumoto S, Uchio E, Isashiki Y, Sakamoto T. Two patients with severe corneal disease in KID syndrome. Am J Ophthalmol. 2004 Jan;137(1):181-3. PubMed ID: 14700667
Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome Wilson GN, Squires RH Jr, Weinberg AG. Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. Am J Med Genet. 1991 Sep 1;40(3):255-9. PubMed ID: 1951425
Corneal Dystrophy, Recurrent Epithelial Erosions Clinical CharacteristicsOcular Features: Individuals have the onset of recurrent corneal erosions as a result of as yet unknown disease processes. Onset is in the first decade of life (even in the first year of life) often with some subepithelial haze or blebs while denser centrally located opacities develop with time. Erosions often are precipitated by relatively minor trauma and are often difficult to treat, lasting for up to a week. Fortunately, the erosions become less frequent as patients age and may cease altogether by the fifth decade of life. Systemic Features: No systemic disease is associated with ERED. GeneticsThe few reported families have all had an autosomal dominant pattern of inheritance. So far no locus or molecular defect has been identified. The clinical features of this condition are found in other corneal dystrophies and it is likely that at least some of the reported cases may have had other unrecognized corneal conditions. Pedigree: Autosomal dominantTreatmentTreatment Options: The usual corneal erosion treatment of hypertonic solutions, bandage patching, and lubricating ointments may be helpful for acute erosions. No long term preventative treatment has been found effective. Corneal transplants remain clear centrally although peripheral opacities may reappear within a few years. ReferencesArticle Title: Franceschetti Hereditary Recurrent Corneal Erosion Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C. Franceschetti Hereditary Recurrent Corneal Erosion. Am J Ophthalmol. 2012 Mar 7. [Epub ahead of print]. PubMed ID: 22402249 A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance Hammar B, Bjorck E, Lagerstedt K, Dellby A, Fagerholm P. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. Acta Ophthalmol. 2008 Nov;86(7):758-63. PubMed ID: 18778339 Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy Valle O. Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy. Acta Ophthalmol (Copenh). 1967;45(6):829-36. PubMed ID: 5300718 A family history of corneal erosions Wales HJ. A family history of corneal erosions. Trans Ophthalmol Soc N Z. 1955;8:77-8. PubMed ID: 13380984 Read more about Corneal Dystrophy, Recurrent Epithelial Erosions
Franceschetti Hereditary Recurrent Corneal Erosion Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C. Franceschetti Hereditary Recurrent Corneal Erosion. Am J Ophthalmol. 2012 Mar 7. [Epub ahead of print]. PubMed ID: 22402249
A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance Hammar B, Bjorck E, Lagerstedt K, Dellby A, Fagerholm P. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. Acta Ophthalmol. 2008 Nov;86(7):758-63. PubMed ID: 18778339
Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy Valle O. Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy. Acta Ophthalmol (Copenh). 1967;45(6):829-36. PubMed ID: 5300718
A family history of corneal erosions Wales HJ. A family history of corneal erosions. Trans Ophthalmol Soc N Z. 1955;8:77-8. PubMed ID: 13380984