A CASE REPORT OF ICHTHYOSIS LAMELLAR SYNDROME

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ESHGHI GH.; SHARAFI B.; FAGHANI H.

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Journal: Avicenna Journal of Clinical Medicine Year:2014 | Volume:21 | Issue:1 (SN 71) Page(s): 76-79

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Title

A CASE REPORT OF ICHTHYOSIS LAMELLAR SYNDROME

Author(s)

ESHGHI GH. | SHARAFI B. | FAGHANI H. | Issue Writer Certificate

Keywords

ALOPECIAQ2

ECTROPIONQ2

ICHTHYOSISQ2

LAMELLARQ2

KERATODERMAQ2

PALMOPLANTARQ2

Abstract

Introduction: ICHTHYOSIS LAMELLAR syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent.Tautness of her facial skin was associated with ECTROPION and eclabion and hypoplasia of auricular cartilages. She had scarring ALOPECIA because of taut skin (specially at the periphery of scalp). She also had PALMOPLANTAR KERATODERMA and secondary nail dystrophy and thanked nails. Her parents also gave us the history of heat intolerance and it is because of interaepidermal constriction of sweat ducts. Our patient had the history of recurrent ear infections and it is because of accumulation of scales in the external ear.Conclusion: Our patient underwent a biopsy and based on our clinical findings her diagnosis was LAMELLAR ICHTHYOSIS.

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APA: Copy

ESHGHI, GH., SHARAFI, B., & FAGHANI, H.. (2014). A CASE REPORT OF ICHTHYOSIS LAMELLAR SYNDROME. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), 21(1 (SN 71)), 76-79. SID. https://sid.ir/paper/17470/en

Vancouver: Copy

ESHGHI GH., SHARAFI B., FAGHANI H.. A CASE REPORT OF ICHTHYOSIS LAMELLAR SYNDROME. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES)[Internet]. 2014;21(1 (SN 71)):76-79. Available from: https://sid.ir/paper/17470/en

IEEE: Copy

GH. ESHGHI, B. SHARAFI, and H. FAGHANI, “A CASE REPORT OF ICHTHYOSIS LAMELLAR SYNDROME,” AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), vol. 21, no. 1 (SN 71), pp. 76–79, 2014, [Online]. Available: https://sid.ir/paper/17470/en

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