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Additional resources for Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

Sample text

The identification of apparently persistent procollagen in a clinically characteristic form of EDS that had also been called arthrochalasis multiplex congenita strengthened the case for a further separate form, type VII [16]. With the proliferation of other forms, the classification reached a total of about a dozen types of EDS. EDS XI was called familial joint instability syndrome by Horton et al. [17] and some would question the necessity or desirability of classifying it as a form of EDS. All classifications need a category for cases (and their families) that defy precise pigeonholing; that is, type XII in some classifications of EDS.

Melanocytes in adult skin are easily seen at the light microscopic level as more lightly stained cells that often ‘‘protrude’’ from the basal surface of the epidermis toward the dermis (Fig. 1). They do not form junctions with other cells of the epidermis nor with the basal lamina, although melanocytes and keratinocytes interact via soluble mediators. Melanocytes contain fine, vimentin intermediate filaments that occur individually within the cytoplasm (compared with bundles of keratin filaments seen in keratinocytes) and the characteristic membranebound melanosome in which melanin pigment is synthesized.

6. Follis RH Jr (1952): Osteogenesis imperfecta congenita; a connective tissue diathesis. J Pediatr 41:713–721. 7. Follis RH Jr (1953): Maldevelopment of the corium in the osteogenesis imperfecta syndrome. Bull Johns Hopkins Hosp 93:225–233. 8. McKusick VA (1955): The cardiovascular aspects of Marfan’s syndrome: A heritable disorder of connective tissue. Circulation 11:321–342. 9. ’’ CV Mosby, St. Louis (later editions in 1960,1966, and 1972). 10. Brante G (1952): Gargoylism: A mucopolysaccharidosis.

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