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).
Table 11-1 Connective
Tissue Nevi and Associated Syndromes |Favorite Table|Download (.pdf)
Table 11-1 Connective
Tissue Nevi and Associated Syndromes
|Syndrome||Synonyms||Cutaneous Findings||Associated Features|
|Familial cutaneous collagenomas||Multiple collagenomas||May have associated cardiomyopathy|
|Tuberous sclerosis collagenomas||Shagreen patch, adenoma sebaceum, ash leaf macules, cafe’ au lait
spots, periungual fibromas||Epilepsy, mental retardation, rhabdomyomas, calcified brain
|Buschke–Ollendorf syndrome||Dermatofibrosis lenticularis disseminate, AD, mutation in
the LEMD3 gene||Osteopoikilosis, dysplasia of bone (leg bones, pelvis, hands, feet)|
Synonyms Nevus elasticus, juvenile
elastoma, collagenoma, collagen hamartomas.
Age Present at birth or childhood.
Genetics May have an autosomal
dominant inherited form. Buschke-Ollendorf syndrome has mutation
in the LEMD3 gene.
Connective tissue nevi are localized malformations of dermal
collagen and/or elastic fibers.
Connective tissue nevi appear in childhood or adolescence and
are asymptomatic but can be disfiguring.
Type Slightly raised plaque (Fig.
Connective tissue nevus Skin-colored
slightly raised plaque on the torso of an infant.
Color Flesh-colored to yellow.
Size Few millimeters to several
Number Solitary or multiple.
Distribution Symmetrically over
abdomen, back, buttocks, arms, thighs.
Can be associated with systemic disease (Table 11-1).
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,
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
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).
Treatment for connective tissue nevi is not necessary. Early
recognition and evaluation for possible associated ...