Sjögren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia.
Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been considered.
D000293:Adolescent; D000328:Adult; D001796:Blood Protein Disorders / Q000150:complications; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D005531:Foot Deformities, Acquired / Q000473:pathology; D006227:Hand Deformities, Acquired / Q000473:pathology; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics / Q000473:pathology; D008297:Male; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology*; D012709:Serum Albumin; D012867:Skin / Q000473:pathology*; D013577:Syndrome
D012709:Serum Albumin