medigraphic.com
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2016, Number 3

<< Back Next >>

Rev Invest Clin 2016; 68 (3)

Llethal keratitis, ichthyosis, and deafness syndrome due to the A88V connexin 26 Mutation

Esmer C, Salas-Alanis JC, Fajardo-Ramirez OR, Ramírez B, Hua R, Choate K

Language: English
References: 20
Page: 143-146
PDF size: 181.49 Kb.


ABSTRACT

Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosisdeafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.


REFERENCES

  1. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Derm. 1981;117:285-9.

  2. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, et al. Keratitis- ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007;156:1015-19.

  3. Mhaske PV, Levit NA, Li L, et al. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol. 2013;304:1150-58.

  4. Xu J, Nicholson, BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013;1828:167-78.

  5. Gerido DA, DeRosa AM, Richard G, White TW. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol. 2007;293:337-45.

  6. Lee JR, Derosa AM, White TW. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol. 2009;129:870-8.

  7. Stong BC, Chang Q, Ahmad S, Lin X. A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope. 2006;116:2205-10.

  8. Janecke AR, Hennies HC, Gunther B, et al. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet. 2005;133:128-31.

  9. Haruna K, Suga Y, Oizumi A, et al. Severe form of keratitis-ichthyosis- deafness (KID) syndrome associated with septic complications. J Dermatol. 2010;37:680-2.

  10. Helm K, Lane AT, Orosz J, Metlay L. Systemic cytomegalovirus in a patient with the keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol. 1990;7:54-6.

  11. de Berker D, Branford WA, Soucek S, Michaels L. Fatal keratitis ichthyosis and deafness syndrome (KIDS). Aural, ocular, and cutaneous histopathology. Am J Dermatopathol. 1993;15:64-9.

  12. Sbidian E, Feldmann D, Bengoa J, et al. Germline mosaicism in keratitis-ichthyosis-deafness syndrome: prenatal diagnosis in a familial lethal form. Clin Genet. 2010;77:587-92.

  13. Mallory SB, Haynie LS, Williams ML, Hall W. Ichthyosis, deafness, and Hirschsprung’s disease. Pediatr Dermatol. 1989;6:24-7.

  14. Gilliam A, Williams ML. Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol. 2002;19:232-6.

  15. Koppelhus U, Tranebjaerg L, Esberg G, et al. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin Exp Dermatol. 2011;36:142-8.

  16. Bassetto F, Tiengo C, Sferrazza R, Belloni-Fortina A, Alaibac M. Vohwinkel syndrome: treatment of pseudo-ainhum. Int J Dermatol. 2010;49:79-82.

  17. Scott CA, Tattersall D, O’Toole EA, Kelsell DP. Connexins in epidermal homeostasis and skin disease. Biochim Biophys Acta. 2012;1818:1952-61.

  18. Levit NA, Mese G, Basaly MG, White TW. Pathological hemichannels associated with human Cx26 mutations causing Keratitis- Ichthyosis-Deafness syndrome. Biochim Biophys Acta. 2012;1818:2014-19.

  19. Meigh L, Hussain N, Mulkey DK, Dale N. Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. Elife. 2014;25;3:e04249.

  20. Koval M. Drowning out communication. Focus on “The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis- deafness syndrome display increased hemichannel activity”. Am J Physiol Cell Physiol. 2013;304:1129-30.




2020     |     www.medigraphic.com