Fabry disease: Ultrastructural findings in skin biopsies of five sibs

1983 ◽  
Vol 12 (1-2) ◽  
pp. 152
Author(s):  
M. Valente ◽  
A. Parenti ◽  
M. Piazza
2004 ◽  
Vol 122 (4) ◽  
pp. 900-908 ◽  
Author(s):  
Beth L. Thurberg ◽  
H. Randolph Byers ◽  
Scott R. Granter ◽  
Robert G. Phelps ◽  
Ronald E. Gordon ◽  
...  

2021 ◽  
Vol 12 (2) ◽  
pp. 130-134
Author(s):  
Khalifa Sharquie ◽  
Raed I Jabbar

Background: Angiokeratoma is a group of benign vascular telangiectasias in the superficial dermis associated with hyperkeratosis of the epidermis. There are different types of angiokeratoma and the color of the lesions—pink, red, dusky red, blue-red—depends on their age. Materials and Methods: Twenty-four patients with different varieties of angiokeratoma were collected from April 2013 through March 2020 and classified according to well-defined types. Each patient gave their formal consent after the nature of the disease was explained to them. Full medical history taking and clinical examination were performed on all patients. Skin biopsies were taken from 12 cases and processed for histopathology with H&E stain. As for therapy, diathermy was used for the treatment of selected localized cases, especially those on the scrotum. Results: Twenty-four cases with different types of angiokeratoma were evaluated, 19 (79.16%) males and 5 (20.83%) females, with ages ranging from 13 to 25 years and a mean age of 19 years. The age of onset was most commonly around adolescence and early adulthood. The lesions were classified into the following: 11 (45.83%) cases of Fordyce, 5 (20.83%) cases solitary, 4 (16.66%) cases circumscriptum, 3 (12.5%) cases oral (on the tongue), and one (4.16%) corporis diffusum (Fabry disease). All patients displayed warty red, blue, or black papules, nodules, or plaques, with the exception of isolated angiokeratoma. Their histopathology revealed hyperkeratosis of the epidermis, which could have been mild or marked acanthosis, as seen in the form of pseudoepithelial hyperplasia with marked elongation of rete ridges. As a dermal change, markedly dilated blood vessels occupied the papillary and reticular dermis. Diathermy was an effective mode of therapy in selected patients with satisfactory cosmetic and therapeutic results. Conclusion: All types of angiokeratoma were recognized but the most common were angiokeratoma of Fordyce, mainly affecting male genitalia, followed by solitary angiokeratoma, affecting mainly the limbs, and angiokeratoma circumscriptum linearly along the limbs. Oral angiokeratoma of the tongue appeared in three patients. All these types have a characteristic presentation that is easy to recognize: warty dusky-red lesions.


JAMA ◽  
1977 ◽  
Vol 237 (11) ◽  
pp. 1121 ◽  
Author(s):  
Sheila Moriber Katz

1986 ◽  
Vol 36 (12) ◽  
pp. 1823-1831
Author(s):  
Shu-ichi Ikeda ◽  
Masao Ushiyama ◽  
Takeshi Nakano ◽  
Takako Kikkawa ◽  
Kiyohiko Kondo ◽  
...  

JAMA ◽  
1977 ◽  
Vol 237 (11) ◽  
pp. 1121-1122
Author(s):  
S. M. Katz

Author(s):  
W. Jurecka ◽  
W. Gebhart ◽  
H. Lassmann

Diagnosis of metabolic storage disease can be established by the determination of enzymes or storage material in blood, urine, or several tissues or by clinical parameters. Identification of the accumulated storage products is possible by biochemical analysis of isolated material, by histochemical demonstration in sections, or by ultrastructural demonstration of typical inclusion bodies. In order to determine the significance of such inclusions in human skin biopsies several types of metabolic storage disease were investigated. The following results were obtained.In MPS type I (Pfaundler-Hurler-Syndrome), type II (Hunter-Syndrome), and type V (Ullrich-Scheie-Syndrome) mainly “empty” vacuoles were found in skin fibroblasts, in Schwann cells, keratinocytes and macrophages (Dorfmann and Matalon 1972). In addition, prominent vacuolisation was found in eccrine sweat glands. The storage material could be preserved in part by fixation with cetylpyridiniumchloride and was also present within fibroblasts grown in tissue culture.


Author(s):  
George Price ◽  
Lizardo Cerezo

Ultrastructural defects of ciliary structure have been known to cause recurrent sino-respiratory infection concurrent with Kartagener's syndrome. (1,2,3) These defects are also known to cause infertility in both males and females. (4) Overall, the defects are defined as the Immotile, or Dyskinetic Cilia Syndrome (DCS). Several ultrastructural findings have been described, including decreased number of cilia, multidirection orientation, fused and compound cilia, membrane blebs, excess matrix in the axoneme, missing outer tubular doublets, translocated doublets, defective radial spokes and dynein arms. A rare but noteworthy ultrastructural finding in DCS is the predominance of microvilli-like structures on the luminal surface of the respiratory epithelium. (5,6) These permanent surface modifications of the apical respiratory epithelium no longer resemble cilia but reflect the ultrastructure of stereocilia, similar to that found in the epidydimal epithelium. Like microvilli, stereocilia are devoid of microtubular ultrastructure in comparison with true cilia.


Author(s):  
R. R. Warner

Keratinocytes undergo maturation during their transit through the viable layers of skin, and then abruptly transform into flattened, anuclear corneocytes that constitute the cellular component of the skin barrier, the stratum corneum (SC). The SC is generally considered to be homogeneous in its structure and barrier properties, and is often shown schematically as a featureless brick wall, the “bricks” being the corneocytes, the “mortar” being intercellular lipid. Previously we showed the outer SC was not homogeneous in its composition, but contained steep gradients of the physiological inorganic elements Na, K and Cl, likely originating from sweat salts. Here we show the innermost corneocytes in human skin are also heterogeneous in composition, undergoing systematic changes in intracellular element concentration during transit into the interior of the SC.Human skin biopsies were taken from the lower leg of individuals with both “good” and “dry” skin and plunge-frozen in a stirred, cooled isopentane/propane mixture.


Author(s):  
S. F. Hayes ◽  
M. D. Corwin ◽  
T. G. Schwan ◽  
D. W. Dorward ◽  
W. Burgdorfer

Characterization of Borrelia burgdorferi strains by means of negative staining EM has become an integral part of many studies related to the biology of the Lyme disease organism. However, relying solely upon negative staining to compare new isolates with prototype B31 or other borreliae is often unsatisfactory. To obtain more satisfactory results, we have relied upon a correlative approach encompassing a variety EM techniques, i.e., scanning for topographical features and cryotomy, negative staining and thin sectioning to provide a more complete structural characterization of B. burgdorferi.For characterization, isolates of B. burgdorferi were cultured in BSK II media from which they were removed by low speed centrifugation. The sedimented borrelia were carefully resuspended in stabilizing buffer so as to preserve their features for scanning and negative staining. Alternatively, others were prepared for conventional thin sectioning and for cryotomy using modified procedures. For thin sectioning, the fixative described by Ito, et al.


Pathology ◽  
2001 ◽  
Vol 33 (3) ◽  
pp. 399-402 ◽  
Author(s):  
Leonardo D. Santos ◽  
Cyril S. K. C. Wong ◽  
Murray Killingsworth

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