Biomaterial Database

Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. 1992

M T Glover, and B D Lake, and D J Atherton

Department of Dermatology, Hospital for Sick Children, London, UK.

Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007413	Intestinal Mucosa	Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.	Intestinal Epithelium,Intestinal Glands,Epithelium, Intestinal,Gland, Intestinal,Glands, Intestinal,Intestinal Gland,Mucosa, Intestinal
D008065	Lipoid Proteinosis of Urbach and Wiethe	An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.	Lipoproteinosis,Urbach-Wiethe Disease,Hyalinosis Cutis et Mucosae,Lipoidproteinosis,Urbach-Wiethe Lipoid Proteinosis,Urbach-Wiethe Syndrome,Lipoid Proteinosis, Urbach-Wiethe,Urbach Wiethe Disease,Urbach Wiethe Lipoid Proteinosis
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D003968	Diarrhea, Infantile	DIARRHEA occurring in infants from newborn to 24-months old.	Infantile Diarrhea,Diarrheas, Infantile,Infantile Diarrheas
D005260	Female		Females
D005885	Gingival Hyperplasia	Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)	Gingival Hyperplasias,Hyperplasia, Gingival,Hyperplasias, Gingival
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man