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OrphanAnesthesia
B. Dev Parajuli · M. Koirala · B. Ghimire

Xeroderma pigmentosum

Xeroderma pigmentosum

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Keywords Xeroderma pigmentosum (XP); ICD 10: Q82.1; Synonyms: Kaposi disease, Ichthyosis; individuals suffering from this disease are often referred to as children of the night or moon people
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Summary

Achondroplasia is the most frequent of more than 100 described types of skeletal dysplasia which lead to dwarfism. The incidence is approx. 0.5-1.5 in 10,000 newborns [1]. Spontaneous mutations cause up to 80% of the diseases. Hereditary propagation takes place in terms of autosomal-dominant transmission. Females and males are equally affected. Genetically speaking, this is the mutation of the fibroblast growth factor receptor 3 gene (FGFR3) [2,3]. This mutation results in an inhibition of cartilage proliferation and a disorder of enchondral ossification. As a consequence, premature ossification of epiphyseal cartilage is observed. Clinically speaking, the following symptoms are characteristic: disproportionate dwarfism, a relatively large head, midfacial hypoplasia, deformations of the spine, leg axis deviation, „trident hand“. As a primary or secondary consequence, other organ systems can be affected [1,4]. As a result, specific anesthetic particularities have to be observed. 

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