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VOL. 3, ISSUE 1 (2021)
Lamellar ichthyosis etiology and pathology: A review article
Authors
Nanda Rachmad Putra Gofur, Aisyah Rachmadani Putri Gofur, Soesilaningtyas, Rizki Nur Rachman Putra Gofur, Mega Kahdina, Hernalia Martadila Putri
Abstract
Introduction: Lamellar ichthyosis (LI) is a form of autosomal recessive congenital ichthyosis (ARCI). It is less common than congenital non-bullous ichthroderma (CIE), with an incidence of about 1 in 300,000 births. This disease begins at birth and continues into adulthood, in severe conditions it is easily recognized. Lamellar ichthyosis is characterized by the presence of large, plate-like lamellar scales, ectropion, and eclabium. The appearance of ichthroderma is usually minimal to no erythroderma. The newborn (“collodion baby”) was wrapped in a shiny envelope that was cracked in several areas. This tension usually causes an inverted eyelid (ectropion) and lips (eclabium). Treatment of lamellar ichthyosis is symptomatic only. Emollients are useful for keeping skin smooth and hydrated. Keratolytic drugs are used to promote peeling and thinning of the stratum corneum. Corneal lubrication may be given for ectropion. Oral retinoids can produce significant improvements, but be aware of the side effects of long-term use. Therefore, life-long therapy is needed to improve quality of life. Discussion: Lamellar ichthyosis is caused by a mutation in a gene encoding the transglutaminase 1 enzyme (TGM 1) on chromosome 14q11. IL usually occurs at birth with collodion babies, which is a translucent (semi-transparent) layer. IL lasts a lifetime, this disease almost always involves the entire surface of the skin. The membrane-associated TGase was approximately 92 kD. Since the identification of the TGase 1 gene (TGM1) mutations in a number of families with the IL mutation on TGM1. In 2003, keratinocyte lipid transporter ABCA12 was reported to be the causative molecule in type 2.In general, there are 5 mutations that cause IL, namely TGM1 (14q11), ABCA12 (2q34), 19p12-q12, 19p13, ALOXE3-ALOX12B (17p13) and ichthyin (5q33). Conclusion: Genetic etiology of lamellar ichtyosis is autosomal recessive and x-linked recessive, caused by a mutation in a gene encoding the transglutaminase 1 enzyme (TGM 1) on chromosome 14q11. Pathology of Lamellar ichthyosis is hyperkeratosis, normal or increased stratum granulosum, and acanthosis are common histologic findings of lamellar ichthyosis. Orthohyperkeratosis was found in all cases and most cases showed follicular keratosis.
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Pages:15-18
How to cite this article:
Nanda Rachmad Putra Gofur, Aisyah Rachmadani Putri Gofur, Soesilaningtyas, Rizki Nur Rachman Putra Gofur, Mega Kahdina, Hernalia Martadila Putri "Lamellar ichthyosis etiology and pathology: A review article ". International Journal of Medical Science and Research, Vol 3, Issue 1, 2021, Pages 15-18
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