... diagnosed by the combination of the typical clinical findings and an abnormally low EOG (Arden index <1.5). The diagnosis is also confirmed by the presence of other affected family members, due to its autosomal-dominant inheritance. Autofluorescence is of great use and interest in the diagnosis...

... Abstract In humans, traits and diseases are inherited primarily by complex or multifactorial modes. These imply that contributions come from more than one gene, and these can be influenced by the environment. They are the mechanisms that underlie inheritance of dental caries, erosive tooth wear...

... Abstract Inherited hyperuricemic disorders fall into two major classes, metabolic overproductionof purines and renal tubular undersecretion. The aim was to explore both. Methodologywas a combination of personal experience and review of relevant literature. The overproductionof hyperuricemias...

... corneodesmosomes (D) remain in the lower stratum corneum. Relationship of NS to AD and ichthyosis vulgaris. Fig. 5. Relationship of NS to AD and ichthyosis vulgaris. Peeling Skin Syndrome Peeling skin syndrome (PSS) type B (OMIM No. 270300) is a recessively inherited disorder, characterized...

... yet another example of an inherited skin disorder that displays a ‘phenotypic shift’ in response to movement from the hydrated in utero milieu to a desiccating external environment. This dramatic shift from a neonatal, mechanobullous to a postnatal hyperkeratotic phenotype is almost certainly driven...

... An overview of the inherited lipid metabolic disorders with ichthyosis, which will be discussed in this chapter, is given in table 1 . Disorders of Fatty Acid Metabolism (Nonsyndromic) Autosomal Recessive Congenital Ichthyoses Background The autosomal recessive congenital...

... Abstract Inherited retinal dystrophies comprise a group of heterogeneous disorders which share progressive loss of photoreceptor function accompanied by visual loss. Retinitis pigmentosa (RP) and Stargardt disease (STGD) are two of the most common retinal dystrophies. Although many factors...