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Connective Tissue Nevus Clinical Presentation

  • Author: Steven Brett Sloan, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 08, 2016
 

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. Note the following:

  • 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: This is one of the acquired variants of collagenoma characterized by nodules similar to those of FCC.
  • Isolated collagenoma: This is characterized by nonfamilial hamartomas of the collagen type.
  • Plantar cerebriform collagenoma: This 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: These develop in a sporadic fashion.
  • Nevus elasticus: This 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.
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Physical

Patients should receive a complete physical examination to rule out any associated conditions. Note the following:

  • FCC: Multiple, indurated cutaneous papulonodules that vary in size are located over the upper two thirds of the back (see the image below).
    Familial cutaneous collagenoma. Familial cutaneous collagenoma.
  • Shagreen patch: Flesh-colored plaques of variable size are located singularly or asymmetrically in limited numbers in the lumbosacral area. Note the image below.
    Shagreen patch. Shagreen patch.
  • 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. Note the image below.
    Collagenoma Collagenoma
  • 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.
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Causes

The cause of connective tissue nevi is unknown.

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Contributor Information and Disclosures
Author

Steven Brett Sloan, MD Associate Professor, Department of Dermatology, University of Connecticut School of Medicine; Residency Site Director, Connecticut Veterans Affairs Healthcare System; Assistant Clinical Professor, Yale University School of Medicine

Steven Brett Sloan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Connecticut State Medical Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Journal of the American Academy of Dermatology;Up to Date;Medical Review Institute of America.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Paul Krusinski, MD Director of Dermatology, Fletcher Allen Health Care; Professor, Department of Internal Medicine, University of Vermont College of Medicine

Paul Krusinski, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Daniel J Hogan, MD Clinical Professor of Internal Medicine (Dermatology), Nova Southeastern University College of Osteopathic Medicine; Investigator, Hill Top Research, Florida Research Center

Daniel J Hogan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Contact Dermatitis Society, Canadian Dermatology Association

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Boris Zaks, MD, and Dina D. Strachan, MD, to the development and writing of this article.

References
  1. Zarate JO, Pelayes DE, Gioino JM, Piantoni GR. [Giant cell collagenoma of the bulbar conjunctiva]. Arch Soc Esp Oftalmol. 2007 Apr. 82(4):233-5. [Medline].

  2. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov. 36(11):1213-8. [Medline].

  3. Xia Y, Darling TN. Rapidly growing collagenomas in multiple endocrine neoplasia type I. J Am Acad Dermatol. 2007 May. 56(5):877-80. [Medline].

  4. Al-Daraji WI, Ramsay HM, Ali RB. Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. J Clin Pathol. 2007 Jul. 60(7):840-2. [Medline].

  5. Twede JV, Turner JT, Biesecker LG, Darling TN. Evolution of skin lesions in Proteus syndrome. J Am Acad Dermatol. 2005 May. 52(5):834-8. [Medline].

  6. McClung AA, Blumberg MA, Huttenbach Y, Colome-Grimmer MI, Raimer SS. Development of collagenomas during pregnancy. J Am Acad Dermatol. 2005 Aug. 53(2 Suppl 1):S150-3. [Medline].

  7. Thappa DM, Singh A, Jaisankar TJ, Rao R, Ratnakar C. Pebbling of the skin: a marker of Hunter's syndrome. Pediatr Dermatol. 1998 Sep-Oct. 15(5):370-3. [Medline].

  8. de Almeida HL Jr, Breunig Jde A, Wolter M, de Castro LA, Rocha NM. Light and electron microscopy of eruptive collagenoma. J Cutan Pathol. 2009 Oct. 36 Suppl 1:35-8. [Medline].

  9. Sardana K, Bansal S, Garg VK, Khurana N. Linear nodular collagenoma--successful treatment with intralesional triamcinolone acetonide. Pediatr Dermatol. 2009 Sep-Oct. 26(5):626-8. [Medline].

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Familial cutaneous collagenoma.
Shagreen patch.
Collagenoma
 
 
 
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