A 4-year-old boy is found to have extremely pliable skin. His parents note that he bruises easily. His joints can be hyperextended. Biochemical studies demonstrate a deficiency of lysyl hydroxylase. Ultrastructural examination of a skin biopsy of this patient would most likely reveal abnormalities associated with which of the following cell/ tissue components?
Correct Answer: Collagen fibers
Description: Ehlers-Danlos syndromes (EDS) are a group of rare, autosomal dominant, inherited disorders of connective tissue that feature remarkable hyper elasticity and fragility of the skin, joint hypermobility, and often a bleeding diathesis. The common feature of most types of EDS is a generalized defect in collagen, including abnormalities in its molecular structure, synthesis, secretion, and degradation. Patients typically can stretch the skin many centimeters, and trivial injuries can lead to serious wounds. Because sutures do not hold well, dehiscence of surgical incisions is common. Hypermobility of the joints allows unusual extension and flexion. Abnormalities would not be expected in the other cell/tissue components listed.Diagnosis: Ehlers-Danlos syndrome
Category:
Pathology
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