eMedicine Specialties > Dermatology > Benign Neoplasms

Connective Tissue Nevus

Author: Steven Brett Sloan, MD, Assistant Professor, Department of Dermatology, University of Connecticut School of Medicine; Director of Nail Disease Clinic and Chief of Dermatology, Newington Veterans Affairs Medical Center
Coauthor(s): Boris Zaks, MD, Staff Physician, Department of Dermatology, Martin Luther King/Charles R Drew Medical Center; Dina D Strachan, MD, Assistant Clinical Professor, Department of Dermatology, St Vincent's Medical Center
Contributor Information and Disclosures

Updated: Mar 11, 2008

Introduction

Background

Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present.

Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes. One report described a collagenoma that occurred on the bulbar conjunctiva.¹

Zosteriform connective tissue nevus is considered to be a separate entity because of its distribution and histopathologic characteristics.

Pathophysiology

The cause of connective tissue nevi is unknown. However, note that osteopoikilosis with or without the skin manifestations of Buschke-Ollendorf syndrome and with or without melorheostosis can be caused by heterozygosity for loss-of-function mutations in LEMD3,² also called MAN1, which encodes an inner nuclear membrane protein.

Frequency

International

The prevalence is rare worldwide.

Mortality/Morbidity

Connective tissue nevi are benign skin lesions.

Race

No racial predilection has been reported for connective tissue nevi.

Sex

No sexual predilection is described.

Age

The age of onset depends on the type of lesion.

• Collagenomas and elastomas generally present during the postpubertal period.
• In Buschke-Ollendorf syndrome, the skin changes may be delayed until adulthood.
• Nevus mucinosis may present at birth, during childhood, or in adolescence.

Clinical

History

Collagenomas have been associated with multiple medical syndromes. For example, 72% of patients seen at the National Institutes of Health (NIH) for evaluation of multiple endocrine neoplasia (MEN) type 1 over a 3-year period were noted to have these lesions.³ Shagreen patches of tuberous sclerosis are collagenomas, and collagenomas have also been associated with Down syndrome. Other diseases associated with collagenomas include chronic myelocytic leukemia, syphilis, Cowden disease,⁴  Proteus syndrome,⁵ and encephalocraniocutaneous lipomatosis.

• Familial cutaneous collagenoma
  • Familial cutaneous collagenoma (FCC) is an inherited disorder.
  • Lesions typically occur in the postpubertal period.
  • Increased numbers of lesions during pregnancy have been reported in a few patients.⁶
  • Cardiac disease has been associated with FCC.
• Shagreen patch
  • Shagreen patch is a collagenoma variant associated with tuberous sclerosis, a disease most commonly inherited in an autosomal dominant pattern. The genetic defects are in the TSC1 and TSC2 genes, which produce hamartin and tuberin, respectively.
  • Flesh-colored plaques of variable size are primarily located in the lumbosacral area. They can occur singularly or asymmetrically in limited numbers.
• Eruptive collagenoma is one of the acquired variants of collagenoma characterized by nodules similar to those of FCC.
• Isolated collagenoma is characterized by nonfamilial hamartomas of the collagen type.
• Plantar cerebriform collagenoma is a disorder that can be inherited or develop sporadically. It is one of the most characteristic findings in persons with Proteus syndrome, in whom it appears in the first or second year of life.
• Buschke-Ollendorf syndrome
  • Buschke-Ollendorf syndrome is a genodermatosis characterized by abnormalities of the skin and the bone. It is inherited in an autosomal dominant fashion.
  • Skin lesions, referred to as dermatofibrosis lenticularis disseminata, typically arise before puberty and can be present at birth.
  • Bone lesions of osteopoikilosis are asymptomatic and of no pathologic significance.
• Nevus anelasticans
  • This condition is not inherited.
  • Elastomas can occur during childhood or in early adolescence.
• Juvenile elastoma develops in a sporadic fashion.
• Nevus elasticus is an elastoma that is an acquired condition.
• Nevus mucinosis (Hunter syndrome)⁷
  • These lesions appear before age 10 years and can disappear spontaneously.
  • Hunter syndrome is a lysosomal storage disorder usually inherited in an X-linked recessive pattern; however, a less frequent autosomal recessive pattern has been noted.
  • The etiology of Hunter syndrome is the lack of iduronate sulfatase, leading to the accumulation of the mucopolysaccharides dermatan sulfate and heparan sulfate.

Physical

Patients should receive a complete physical examination to rule out any associated conditions.

• FCC: Multiple, indurated cutaneous papulonodules that vary in size are located over the upper two thirds of the back (see Media File 1).
• Shagreen patch: Flesh-colored plaques of variable size are located singularly or asymmetrically in limited numbers in the lumbosacral area.
• Eruptive collagenoma: Multiple cutaneous papulonodules are located on the extremities, the lower part of the trunk, and the ears.
• Isolated collagenoma: This condition is characterized by cutaneous papulonodules, sometimes in a zosteriform pattern.
• Plantar cerebriform collagenoma: This condition is characterized by cerebriform plaques on the palms and the soles.
• Buschke-Ollendorf elastomas
  • Lesions consist of minimally elevated and firm nodules that may be grouped together in one or several plaques, or they may be widely disseminated.
  • They vary in size from 0.5-8 cm in diameter, and they may have a wrinkled, pigskin appearance.
  • The most common areas of involvement include the abdomen, the back, the buttocks, the arms, and the thighs.
  • Nevi are asymmetric and occur on the lower part of the trunk and the extremities.
• Nevus anelasticans: These small, yellowish, perifollicular papules lack elastic fibers. They are located on the chest.
• Juvenile elastoma: Numerous nodules are present on the lower part of the trunk and the anterior aspects of the thighs.
• Nevus elasticus: Lesions are similar to those of juvenile elastoma.
• Nevus mucinosis (Hunter syndrome)
  • Symmetric, small, firm papules that are located on the arms, on the chest, and over the scapular region give the skin a pebbled appearance.
  • Hunter syndrome involves multiple organ systems, including severe CNS impairment (eg, mental retardation, deafness, progressive neurologic disease), coronary heart disease, hepatosplenomegaly, and respiratory disease. It is also associated with coarse facial features.

Causes

The cause of connective tissue nevi is unknown.

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