Histopathologic and ultrastructural study of lupus‐like skin lesions in a patient with Bloom syndrome

• Published in: Journal of cutaneous pathology Vol. 25; no. 5; pp. 275 - 279
• Main Authors: Grob, Martin, Wyss, Myriam, Spycher, Max A., Dommann, Stefan, Schinzel, Albert, Burg, Günter, Trüeb, Ralph M.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.05.1998; Blackwell
• Subjects: Basement Membrane - metabolism; Basement Membrane - ultrastructure; Biological and medical sciences; Bloom Syndrome - metabolism; Bloom Syndrome - pathology; Child, Preschool; Dermatology; Endothelium, Vascular - ultrastructure; Epidermis - ultrastructure; Fluorescent Antibody Technique, Direct; Humans; Immunoglobulin M - metabolism; Lupus Erythematosus, Cutaneous - metabolism; Lupus Erythematosus, Cutaneous - pathology; Male; Medical sciences; Microscopy, Electron; Skin - blood supply; Skin - metabolism; Skin - pathology; Skin involvement in other diseases. Miscellaneous. General aspects; Stem Cells - ultrastructure; Human; Immunohistochemistry; Chromosome fragility; Connective tissue disease; Skin disease; Male; Electron microscopy; Genetic disease; Case study; Pathology; Bloom syndrome; Lupus like syndrome; Immunofluorescence; Child
• ISSN: 0303-6987; 1600-0560
• DOI: 10.1111/j.1600-0560.1998.tb01733.x

The histopathology of the lupus‐like skin lesions associated with Bloom syndrome has been sporadically described. Skin biopsies from a 2‐year‐old boy with the classical features of Bloom syndrome, including lupus‐like skin lesions, demonstrated marked interface changes with basal liquefaction degeneration, a moderate superficial mononuclear infiltrate, pigmentary incontinence, and capillary dilation in the papillary dermis. Immunophenotyping of the dermal infiltrate revealed predominance of T‐cells. Basement membrane thickening on periodic acid‐Schiff examination was not seen. Direct immunofluorescence failed to demonstrate deposits of immunoglobulin other than nonspecific IgM deposition along the basement membrane zone of lesional skin. Ultrastructurally, the most striking findings were disintegration of basal cell cytoplasm and tubuloreticular inclusions in vascular endothelia. Taken together, the histologic and ultrastructural features of lipus‐like lesions associated with Bloom syndrome mimic those of cutaneous lupus erythematosus, with the exception of paucity of immune deposits at the dermoepidermal Junction.