[Genetic counseling for dermatologic patients].
Many genetic and environmental influences focus on the skin, thus producing a high frequency of multifactorial diseases in this organ (genetic disposition together with exogenous force leading to manifestation) [2]. Genetic advice must be comprehensive, i.e., include aspects of diagnosis, prognosis, preventive and therapeutic management and psychological guidance of affected families. Ideally it should be given by the genetically trained dermatologist or family doctor. Pedigree analysis combined with clinical, morphological, biochemical and immunological methodology are employed to reach a diagnosis. Consideration must be given to the heterogeneity of many diseases with predominantly or partially genetic background. Here genetic analysis can help to identify clinically overlapping entities. HLA-typing contributes to identify individuals at risk in an increasing number of conditions, for instance in psoriasis. Prenatal diagnosis by fetoscopy has been accomplished in congenital ichthyosis and hereditary bullous epidermolysis. According to a rule of thumb rare conditions (monogenic, chromosomal) with a tendency to syndromic manifestation may carry a high risk of recurrence, up to over 50%, while the common diseases of multifactorial origin with usually single-organ-manifestation (here skin and/or mucous membranes) justify a more optimistical approach. Recurrence occurs in less than 10%. Disorders of fertility call for karyotype analysis in order to exclude balanced aberrations with the potential of severely malformed offspring.
D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011565:Psoriasis / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics*; D014960:X Chromosome
D006680:HLA Antigens
Der dermatologische Patient in der genetischen Sprechstunde.