Menkes' kinky hair syndrome: Ultrastructural cutaneous alterations of the elastic fibers

Pediatric Dermatology

Volumn 14, Issue 5, 1997, Pages 347-350

  Martins, C ^a   Goncalves C ^b,c   Moreno, A ^a   Goncalves O ^a   Baptista, A Poiares ^a   Bairos, V ^b  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF COIMBRA   (Portugal)

^c UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; PROTEIN LYSINE 6 OXIDASE;

ARTICLE; CASE REPORT; CHILD; ENZYME DEFECT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MENKES SYNDROME; PRIORITY JOURNAL; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

EID: 1842333254     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1525-1470.1997.tb00978.x     Document Type: Article

References (14)

1. Menkes JHM, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-779.
2. Short MP, Adams RD. Neurocutaneous diseases. In: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, eds. Dermatology in general medicine. New York: McGraw-Hill. 1993:2274-2275.
3. Enjolras O, Leibowitch ML, Hewitt J, et al. Maladie de Menkes. Anomalies ultrastructurales cutanéphanériennes nouvelles. Ann Dermatol Venereol (Paris) 1978;105:493-498.
4. Cerda MP, Navarro M, Querol I, et al. Sindrome de Menkes (Kinky-Hair). Estudio de un caso y revision de la literatura. Acta Dermo Sif 1988;79:433-439.
5. Gerdes AM, Tonnesen T, Pergamet E, et al. Variability in clinical expression of Menkes syndrome. Eur J Pediatr 1988;148:132-135.
6. Danks DM, Cartwright E, Campbell PE. Is Menkes' syndrome a heritable disorder of connective tissue? Lancet 1971;13:1089.
7. Kaler SG. Menkes disease. Adv Pediatr 1994;41:263-304.
8. Gosline JM, Rosenbloom J. Elastin. In: Piez KA, Reddi AM, eds. Extracellular matrix biochemistry. New York: Elsevier, 1984:191-227.
9. Mecham RP, Davies EC. Elastic fiber structure and assembly. In: Yurchenko PD, Birk DE, Mecham RP, eds. Extracellular matrix assembly and structure. New York: Academic Press, 1994:281-314.
10. Pereira GP, Rodrigo FG, Ferreira JF. The elastic system fibers. In: Sandberg LB, Gray NR, Austen KF, eds. Advances in experimental medicine and biology. New York: Plenum Press, 1977:19-30.
11. Kadar A. Scanning electron microscopy of purified elastin with and without enzymatic digestion. In: Sandberg LB, Gray NR, Austen KF, eds. Advances in experimental medicine and biology. New York: Plenum Press, 1977:71-96.
12. Nakamura H, Kanai C, Mizuhira V. An electron stain for elastic fibers using orcein. J Histochem Cytochem 1977;25:306-308.
13. Cachera S, McGee C, Uriu-Hare JY. Expression and accumulation of lysyl oxidase, elastin and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys 1993;301:325-329.
14. Waisman J, Carnes WH. Cardiovascular studies on copper-deficient swine. Am J Pathol 1967;51:117-135.