Medscape is available in 5 Language Editions – Choose your Edition here.


Connective Tissue Nevus Workup

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

Laboratory Studies

Laboratory studies are usually directed by signs or symptoms suggesting that the connective tissue nevus is part of an underlying syndrome. Eruptive connective tissue nevi have been associated with syphilis.

Hunter syndrome can be detected either by performing fibroblast enzyme studies or by finding mucopolysaccharides in the urine.


Imaging Studies

Radiographs of the spine should be obtained in patients with extensive musculoskeletal deformities.

In patients suspected of having Buschke-Ollendorf syndrome, radiographs of the hands, the feet, and the knees should be obtained. In patients with Buschke-Ollendorf syndrome, radiographic studies reveal round densities that are 2-10 mm in diameter in the long bones and the bones of the hands, the feet, and the pelvis.

In patients with tuberous sclerosis, imaging studies of the brain, EEG, funduscopic examination, renal ultrasound, and an echocardiogram in infancy are indicated.

Cardiac studies, such as echocardiography, are useful to evaluate for coronary heart disease secondary to mucopolysaccharide deposition.



Perform either a punch biopsy or an incisional/excisional skin biopsy. The skin biopsy depth must include the entire dermis and may need to include adjacent healthy skin to document abnormalities in elastin, collagen, or ground substance.


Histologic Findings

In collagenoma, a disproportionate increase of dense, coarse collagen fibers, leading to dermal thickening, is observed. Storiform collagenomas have been suggested to be a possible clue to a diagnosis of Cowden disease. Scanning electron microscopy of the dermis of an eruptive collagenoma showed individualized collagen fibers forming waved compact masses and not bundles. Transmission electron microscopy also showed sparse and loose collagen fibers with different diameters in cross sections.[8]

In elastoma, the dermis has an increased number of nonfragmented, interweaving elastin fibers.

In pseudoxanthoma elasticum, elastic tissue fragmentation and calcification are observed.

Hunter syndrome is the only mucopolysaccharidosis in which significant extracellular dermal mucin is present. The fibroblasts in this condition metachromatically stain cytoplasmic material, and characteristic vacuoles are seen on electron microscopy examination.

Contributor Information and Disclosures

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.


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.

  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].

Familial cutaneous collagenoma.
Shagreen patch.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.