论文信息 - CUTANEOUS CHANGES IN THE MORQUIO SYNDROME

CUTANEOUS CHANGES IN THE MORQUIO SYNDROME

SUMMARY.— Two cases of the Morquio syndrome, with associated mucopolysacchariduria, are described. Striking cutaneous abnormalities were found in each, the skin being loose, thickened, tough and inelastic particularly at the extremities. Generalized telangiectasia was present especially on the face and limbs. Similar changes have frequently been reported in the closely related Hurler syndrome. The presence of common features in the skin in these two conditions indicates that the cutaneous abnormalities of the Hurler syndrome are not unique.

M. Greaves | P. Inman

[1] G. Manley,et al. Diagnosis of Hurler's syndrome in the hospital laboratory and the determination of its genetic type. , 1966, Archives of disease in childhood.

[2] V. McKusick,et al. THE GENETIC MUCOPOLYSACCHARIDOSES , 1965, Medicine.

[3] M. Lamy,et al. Hurler's disease, Morquio's disease, and related mucopolysaccharidoses , 1965 .

[4] M. Lamy,et al. [MORQUIO'S DISEASE. CLINICAL, RADIOLOGICAL AND BIOLOGICAL STUDY]. , 1963, La Presse medicale.

[5] A. Linker,et al. Morquio's disease: An abnormality of mucopolysaccharide metabolism. , 1963, The Journal of pediatrics.

[6] H. Scheie,et al. Studies of the skin in Hurler's syndrome: mucopolysaccharidosis. , 1962, Archives of dermatology.

[7] I. Steiness. ACID MUCOPOLYSACCHARIDES IN URINE IN GARGOYLISM , 1961 .

[8] S. Levin. A specific skin lesion in gargoylism. , 1960, A.M.A. journal of diseases of children.

[9] H. Z. Lund,et al. Gargoylism with cutaneous manifestations. , 1952, A.M.A. archives of dermatology and syphilology.

[10] S. Lindsay,et al. GARGOYLISM (LIPOCHONDRODYSTROPHY): A Review of Clinical Observations in Eighteen Cases , 1948 .

[11] J. Brailsford. CHONDRO-OSTEO-DYSTROPHY , 1929 .

[12] C. Hunter. A Rare Disease in Two Brothers , 1917, Proceedings of the Royal Society of Medicine.