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HK J Paediatr (New Series)
Vol 27. No. 1,
2022
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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 Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China
HM Luk(陸浩明) MBBS(HK), FHKCPaed, FHKAM(Paed) Clinical Genetic Service, Department of Health, Hong Kong SAR, China
S Ho(何嘉倫) MBChB(CUHK), FHKCPaed, FHKAM(Paed)
IFM Lo(盧輝文) MBChB(CUHK), FHKCPaed, FHKAM(Paed) Correspondence to: Dr HM Luk Email: lukhm@ha.org.hk Received August 4, 2020
Abstract 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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