Lamelar Ichthyosis
Journal Title: Journal of Clinical Medical Research - Year 2021, Vol 2, Issue 3
Abstract
Background: Lamellar Ichthyosis (LI) is a rare hereditary autosomal recessive disease with a defect in chromosome 14q11 which generates defect of transglutaminase-1 (TGM-1) enzyme. Clinical manifestation of IL is initiated with the occurrence of collodion membrane that sheds and is subsequenly replaced by thick scale, eclabium, ectropion, and palmoplantar hyperkeratosis. Gold standard of LI diagnosis is genetic analysis examination. Ichthyosis therapy includes scales removal, topical keratolytic, oral retinoid, and its complication management. Case: A boy of 3 years and 11 months old was referred from Paediatric Polyclinic to Dermatology and Venereology Polyclinic of Dr. Moewardi Hospital, Surakarta with an ailment of scales all over his body. The scales have appeared since birth. The patient was born encased by a membrane that subsequently shed in a few days, afterward the skin almost all over his body got dry, thicken, and scally like a fish. His eyelids turned outward, and the lips pulled backward. During dermatology examination it was discovered that lamellar type squama with erythematosus basis was visible upon the generalisata regio, hyperkeratosis with a part of erosion and fissure was visible upon bilateral palmar manus et plantar pedis regio. Ectropion was visible upon bilateral oculi regio, eclabium was visible upon oris regio. The result of histopathology examination indicated stratum corneum orthokeratosis, focal parakeratosis upon hypergranulosis and a spectrum of mild psoriasiform hyperplasia. The patient was diagnosed with ichthyosis lamellar and obtained topical therapy of milk bath as well as other therapies for the complications he suffered from. Discussion: Lamellar ichthyosis is a genetic autosomal recessive skin disease which appears at birth in the form of collodion membrane that covers all over body. Transglutaminase (TGM) 1 gene is reported to be the most frequent gene that undergo mutation in IL. Transglutaminase serves as the catalyst of cellular protein bond in the formation of cornification sheath and ceramide adhesion on lamellar bodies, that it plays an important role in the formation of lipid component and corneum stratum protein. Damage on TGM-1 generates disturbance in the function of skin barrier as it is observed in IL clinical. The therapies applied for IL included scales removal, topical therapy in the form of keratolytic, oral therapy in the form of retinoid, and other advanced management.
Authors and Affiliations
Adelia Wuri Pramudita, Prasetyadi Mawardi
Keywords
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- EP ID EP698984
- DOI http://dx.doi.org/10.46889/JCMR.2021.2302
- Views 66
- Downloads 0
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