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Connective tissue nevi are benign, slightly elevated, well-circumscribed plaques that are often seen as an isolated skin finding, but can also be associated with other systemic disease (Table 11-1).

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Table Graphic Jump Location
Table 11-1 Connective Tissue Nevi and Associated Syndromes 
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Synonyms Nevus elasticus, juvenile elastoma, collagenoma, collagen hamartomas.

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Epidemiology

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Age Present at birth or childhood.

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Gender M = F.

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Prevalence Uncommon.

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Genetics May have an autosomal dominant inherited form. Buschke-Ollendorf syndrome has mutation in the LEMD3 gene.

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Pathophysiology

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Connective tissue nevi are localized malformations of dermal collagen and/or elastic fibers.

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History

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Connective tissue nevi appear in childhood or adolescence and are asymptomatic but can be disfiguring.

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Physical Examination

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Skin Findings

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Type Slightly raised plaque (Fig. 11-1).

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FIGURE 11-1
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Connective tissue nevus Skin-colored slightly raised plaque on the torso of an infant.

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Color Flesh-colored to yellow.

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Size Few millimeters to several centimeters.

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Number Solitary or multiple.

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Distribution Symmetrically over abdomen, back, buttocks, arms, thighs.

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General Findings

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Can be associated with systemic disease (Table 11-1).

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Differential Diagnosis

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Connective tissue nevi can be diagnosed clinically and confirmed by skin biopsy. They can be confused with other dermal or subcutaneous processes such as fibromatoses, fibrous hamartoma of infancy, infantile myofibromatosis, dermatofibromas, lipomas, scars, keloids, pseudoxanthoma elasticum, or mucopolysaccharidoses.

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Laboratory Examinations

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Dermatopathology Skin biopsy reveals disorganized collagen and/or elastin fibers. Typically, there is an increase in collagen and a decrease or normal amount of elastin. Biopsies of the lesion can be easily mistaken for normal skin.

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Course and Prognosis

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Connective tissue nevi are benign. They persist for life and can increase in number during pregnancy. They are typically asymptomatic but can be cosmetically troublesome. The presence of connective tissue nevi should alert the clinician to check carefully for other signs of tuberous sclerosis (Table 11-1).

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Management

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Treatment for connective tissue nevi is not necessary. Early recognition and evaluation for ...

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