Table of Contents

HK J Paediatr (New Series)
Vol 27. No. 1, 2022

HK J Paediatr (New Series) 2022;27:37-41

Case Report

Expansion of Phenotype of Lanosterol Synthase-related Disease: A Case Report and Literature Review

S Ho, IFM Lo, HM Luk


There are currently fewer than 14 reported families with members suffering from Lanosterol synthase (LSS)-related disease who presented with either cataract or hypotrichosis and non-obligatory mental retardation and/or ectodermal presentation. There is currently only one reported case with an intermediate phenotype of co-existing cataract and hypotrichosis. In this case report, we wish to illustrate a patient suffering from molecularly confirmed LSS-related disease with an intermediate phenotype. In addition, she also has ectodermal manifestations but without any intellectual disability.

Keyword : Epidermolytic; Cataract; Hyperkeratosis; Hypotrichosis


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