Connective Tissue Nevus Workup
- Author: Steven Brett Sloan, MD; Chief Editor: Dirk M Elston, MD more...
Laboratory studies are usually directed by signs or symptoms suggesting that the connective tissue nevus is part of an underlying syndrome. Eruptive connective tissue nevi have been associated with syphilis.
Hunter syndrome can be detected either by performing fibroblast enzyme studies or by finding mucopolysaccharides in the urine.
Radiographs of the spine should be obtained in patients with extensive musculoskeletal deformities.
In patients suspected of having Buschke-Ollendorf syndrome, radiographs of the hands, the feet, and the knees should be obtained. In patients with Buschke-Ollendorf syndrome, radiographic studies reveal round densities that are 2-10 mm in diameter in the long bones and the bones of the hands, the feet, and the pelvis.
In patients with tuberous sclerosis, imaging studies of the brain, EEG, funduscopic examination, renal ultrasound, and an echocardiogram in infancy are indicated.
Cardiac studies, such as echocardiography, are useful to evaluate for coronary heart disease secondary to mucopolysaccharide deposition.
Perform either a punch biopsy or an incisional/excisional skin biopsy. The skin biopsy depth must include the entire dermis and may need to include adjacent healthy skin to document abnormalities in elastin, collagen, or ground substance.
In collagenoma, a disproportionate increase of dense, coarse collagen fibers, leading to dermal thickening, is observed. Storiform collagenomas have been suggested to be a possible clue to a diagnosis of Cowden disease. Scanning electron microscopy of the dermis of an eruptive collagenoma showed individualized collagen fibers forming waved compact masses and not bundles. Transmission electron microscopy also showed sparse and loose collagen fibers with different diameters in cross sections.
In elastoma, the dermis has an increased number of nonfragmented, interweaving elastin fibers.
In pseudoxanthoma elasticum, elastic tissue fragmentation and calcification are observed.
Hunter syndrome is the only mucopolysaccharidosis in which significant extracellular dermal mucin is present. The fibroblasts in this condition metachromatically stain cytoplasmic material, and characteristic vacuoles are seen on electron microscopy examination.
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