title: Richner-Hanhart's syndrome: new ultrastructural observations on skin lesions of two cases.
abstract: New ultrastructural observations are described in skin lesions of two brothers with Richner-Hanhart's syndrome (RHS). Physical examination of the two patients showed painful skin lesions of palms and soles combined with denderitic corneal ulceration and mental retardation. The diagnosis of RHS was confirmed biochemically with high tyrosine levels in both blood and urine. Examination by transmission electron microscopy revealed several abnormal ultrastructural changes in the epidermal cells. The horny cells contained heterogeneously, electron-dense cytoplasm with many lipid droplets. The granular cell cytoplasm contained abundant tonofibrils and keratohyaline granules. The spinous cell cytoplasm was vacuolated due to the presence of minute tyrosine crystals, which are known to have a lytic effect. The surrounding keratinocytes contained multilobed nuclei. The basal epidermal cells appeared normal except for Merkel cells, which were severely damaged by vacuolatio, also due to the presence of tyrosine crystals. This study showed that high tyrosine levels can induce several ultrastructural pathological changes in the epidermal cells, including the skin chemoreceptor Merkel cells.
authors.affiliation: Department of Pathology, College of Medicine, King Saud University, Abha, Kingdom of Saudi Arabia.
authors.forename: S M
authors.initials: SM
authors.lastname: el-Shoura
authors.forename: T M
authors.initials: TM
authors.lastname: Tallab
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D002648:Child; D006801:Humans; D015603:Keratinocytes / Q000473:pathology / Q000648:ultrastructure; D007645:Keratoderma, Palmoplantar / Q000473:pathology*; D008297:Male; D013577:Syndrome