A CASE REPORT OF KERATODERMA AND BILATERAL DEAFNESS

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ESHGHI GH.; BABAIE H.; FAGHANI H.

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Journal: Avicenna Journal of Clinical Medicine Year:2014 | Volume:20 | Issue:4 (SN 70) Page(s): 342-345

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Title

A CASE REPORT OF KERATODERMA AND BILATERAL DEAFNESS

Author(s)

ESHGHI GH. | BABAIE H. | FAGHANI H. | Issue Writer Certificate

Keywords

CONNEXIN 26Q2

KERATODERMAQ2

PALMOPLANTARQ2

SENSORINEURAL HEARING LOSSQ2

Abstract

Introduction: Various inherited or acquired disorders are characterized by PALMOPLANTAR KERATODERMA hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation (A7445G) of the mitochondrial t-RNA coded for serine (MT-TS1) is created.Case Report: On skin examination of a 7 year old boy, we observed hyperkeratosis of palm and sole, elbows and knees (Keratoderma of palms &soles with extensor surface of limbs involvement), and found out the history and evidence of sensory-neural deafness since birthday and he had undergone cochlear implant at the age of two. Thus this patient is placed in a rare group of KERATODERMA associated with sensory-neural deafness. Since there is no history of similar disease in his pedigree, we suspected the boy had a rare type of KERATODERMA associated with sensory- neural deafness that has mitochondrial inheritance. In reported cases of this disorder in the world there is no involvement of limb's extensor. So we probably report a new subtype of the rare disorder or a rare separate disorder.Conclusion: The patient is a case with diffuse PALMOPLANTAR KERATODERMA with the involvement of extensor surfaces and sensory-neural deafness that have mitochondrial inheritance that is unlikely to be reported yet. The disease should be controlled with maintenance treatments.

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APA: Copy

ESHGHI, GH., BABAIE, H., & FAGHANI, H.. (2014). A CASE REPORT OF KERATODERMA AND BILATERAL DEAFNESS. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), 20(4 (SN 70)), 342-345. SID. https://sid.ir/paper/17751/en

Vancouver: Copy

ESHGHI GH., BABAIE H., FAGHANI H.. A CASE REPORT OF KERATODERMA AND BILATERAL DEAFNESS. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES)[Internet]. 2014;20(4 (SN 70)):342-345. Available from: https://sid.ir/paper/17751/en

IEEE: Copy

GH. ESHGHI, H. BABAIE, and H. FAGHANI, “A CASE REPORT OF KERATODERMA AND BILATERAL DEAFNESS,” AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), vol. 20, no. 4 (SN 70), pp. 342–345, 2014, [Online]. Available: https://sid.ir/paper/17751/en

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