Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation

Carmen Esmer, Julio C. Salas-Alanis, Oscar R. Fajardo-Ramirez, Brenda Ramírez, Rong Hua, Keith Choate

Research output: Contribution to journalArticle

2 Citations (Scopus)

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-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.
Original languageEnglish
Pages (from-to)143-146
Number of pages4
JournalRevista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
Volume68
Issue number3
Publication statusPublished - 1 May 2016
Externally publishedYes

Fingerprint

Palmoplantar Keratoderma
Mutation
Keratitis
Alopecia
Sepsis
Newborn Infant
Genes
Keratitis-Ichthyosis-Deafness Syndrome
Connexin 26
Keratitis, Ichthyosis, and Deafness (KID) Syndrome

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Esmer, C., Salas-Alanis, J. C., Fajardo-Ramirez, O. R., Ramírez, B., Hua, R., & Choate, K. (2016). Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, 68(3), 143-146.
Esmer, Carmen ; Salas-Alanis, Julio C. ; Fajardo-Ramirez, Oscar R. ; Ramírez, Brenda ; Hua, Rong ; Choate, Keith. / Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation. In: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 2016 ; Vol. 68, No. 3. pp. 143-146.
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Esmer, C, Salas-Alanis, JC, Fajardo-Ramirez, OR, Ramírez, B, Hua, R & Choate, K 2016, 'Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation', Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, vol. 68, no. 3, pp. 143-146.

Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation. / Esmer, Carmen; Salas-Alanis, Julio C.; Fajardo-Ramirez, Oscar R.; Ramírez, Brenda; Hua, Rong; Choate, Keith.

In: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, Vol. 68, No. 3, 01.05.2016, p. 143-146.

Research output: Contribution to journalArticle

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AU - Esmer, Carmen

AU - Salas-Alanis, Julio C.

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AU - Ramírez, Brenda

AU - Hua, Rong

AU - Choate, Keith

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AB - 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-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.

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EP - 146

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