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SECTION 11: BENIGN DERMAL PROLIFERATIONS

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CONNECTIVE TISSUE NEVUS

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 systemic disease (Table 11-1).

TABLE 11-1Connective Tissue Nevi and Associated Syndromes
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TABLE 11-1 Connective Tissue Nevi and Associated Syndromes
Syndrome Inheritance Cutaneous Findings Associated Features

Familial cutaneous collagenomas

Autosomal dominant (possible LEMD3 gene mutation)

Multiple collagenomas

May have associated cardiomyopathy

Tuberous sclerosis collagenomas

Autosomal dominant (TSC1 or TSC2 gene mutation)

Shagreen patch, adenoma sebaceum, ash leaf macules, café au lait spots, periungual fibromas

Epilepsy, mental retardation, rhabdomyomas, calcified brain nodules

Buschke–Ollendorff syndrome

Autosomal dominant (LEMD3 gene mutation)

Dermatofibrosis lenticularis disseminata

Osteopoikilosis seen on x-ray, dysplasia of bone (leg bones, pelvis, hands, feet)

Proteus syndrome

Mosaic mutation (AKT gene mutation)

Cerebriform connective tissue nevus, often on the feet (plantar collagenoma)

Areas of sporadic, progressive overgrowth, vascular malformations, linear epidermal nevi, dysregulated adipose tissue

SYNONYMS Nevus elasticus, juvenile elastoma, collagenoma, collagen hamartomas.

EPIDEMIOLOGY

AGE Present at birth or childhood.

GENDER M = F.

PREVALENCE Uncommon.

GENETICS May have an autosomal dominant inherited form; see Table 11-1.

PATHOPHYSIOLOGY

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

HISTORY

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

PHYSICAL EXAMINATION

Skin Findings

TYPE Slightly raised plaque (Fig. 11-1). May have a pebbly surface.

FIGURE 11-1
Connective tissue nevus

Flesh-colored, slightly raised plaque on the torso of an infant.

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COLOR Flesh-colored to yellow.

SIZE Few millimeters to several centimeters.

NUMBER Solitary or multiple.

DISTRIBUTION Symmetrically over abdomen, back, buttocks, arms, thighs. Occasionally linear configuration.

General Findings

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

DIFFERENTIAL DIAGNOSIS

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.

LABORATORY EXAMINATIONS

DERMATOPATHOLOGY Skin biopsy reveals disorganized collagen and/or elastin fibers in the dermis. 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. Special staining for collagen or elastic fibers may aid in the diagnosis.

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