Biomaterial Database

Ultrastructural observations in Darier's disease. 1988

Z el-Gothamy, and M M Kamel

Department of Dermatology, Ain Shams University, Cairo, Egypt.

Two patients with Darier's disease--diagnosed clinically by the presence of characteristic keratotic papules in seborrheic areas--were biopsied for light- and electron-microscopic studies. Light microscopy revealed typical histologic features of Darier's disease. Ultrastructural studies showed the presence of cytoplasmic processes projecting from the basal keratinocytes (basal keratinocyte herniations) into the underlying dermis through small defects in the basal lamina, which was intact in some areas but in other locations showed thickening, irregularity, and replication. Widening of the lamina lucida with partial or complete disappearance of hemidesmosomes were noted in many areas.

UI	MeSH Term	Description	Entries
D007382	Intermediate Filaments	Cytoplasmic filaments intermediate in diameter (about 10 nanometers) between the microfilaments and the microtubules. They may be composed of any of a number of different proteins and form a ring around the cell nucleus.	Tonofilaments,Neurofilaments,Filament, Intermediate,Filaments, Intermediate,Intermediate Filament,Neurofilament,Tonofilament
D007633	Keratins	A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION.	Cytokeratin,Keratin Associated Protein,Keratin,Keratin-Associated Proteins,alpha-Keratin,Associated Protein, Keratin,Keratin Associated Proteins,Protein, Keratin Associated,alpha Keratin
D007644	Darier Disease	An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.	Acrokeratosis Verruciformis of Hopf,Darier-White Disease,Keratosis Follicularis,Acantholytic Dyskeratotic Epidermal Nevi,Acantholytic Dyskeratotic Epidermal Nevus,Acrokeratosis Verruciformis,Darier's Disease,Hopf Disease,Darier White Disease,Darier-White Diseases,Dariers Disease,Disease, Darier,Disease, Darier's,Disease, Darier-White,Disease, Hopf,Diseases, Darier-White,Diseases, Hopf,Hopf Acrokeratosis Verruciformis,Hopf Diseases,Verruciformis, Acrokeratosis
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
D003896	Desmosomes	A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)	Desmosome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000051	Acantholysis	Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE.	Acantholyses
D001485	Basement Membrane	A darkly stained mat-like EXTRACELLULAR MATRIX (ECM) that separates cell layers, such as EPITHELIUM from ENDOTHELIUM or a layer of CONNECTIVE TISSUE. The ECM layer that supports an overlying EPITHELIUM or ENDOTHELIUM is called basal lamina. Basement membrane (BM) can be formed by the fusion of either two adjacent basal laminae or a basal lamina with an adjacent reticular lamina of connective tissue. BM, composed mainly of TYPE IV COLLAGEN; glycoprotein LAMININ; and PROTEOGLYCAN, provides barriers as well as channels between interacting cell layers.	Basal Lamina,Basement Lamina,Lamina Densa,Lamina Lucida,Lamina Reticularis,Basement Membranes,Densas, Lamina,Lamina, Basal,Lamina, Basement,Lucida, Lamina,Membrane, Basement,Membranes, Basement,Reticularis, Lamina
D001706	Biopsy	Removal and pathologic examination of specimens from the living body.	Biopsies
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.