Dermatology

Connective tissue nevus (collagenoma, elastoma, nevus mucinosis)

Are You Confident of the Diagnosis?

Characteristic findings on physical examination

–Firm papule, plaque, or nodule (Figure 1); may be plural.

–Collagenomas generally present in the postpubertal period.

Figure 1.

Collagenoma.

–Familial cutaneous collagenoma demonstrate many papulonodules on upper back and abdomen (autosomal dominant).

–Eruptive collagenoma present as many papulonodules on extremities and lower trunk.

–Proteus syndrome has the plantar cerebriform collagenoma as the most characteristic feature.

–Tuberous sclerosis displays a Shagreen patch appearing as a pig-skin like lumbrosacral plaque; it can be present at birth (autosomal dominant).

–Elastomas may appear in childhood or early adulthood.

–Nevus anelasticus characteristically is noted as small perifollicular papules on upper trunk in adolescence.

–Juvenile elastoma/nevus elasticus presents as multiple nodules on lower trunk and anterior thighs.

–Buschke-Ollendorf syndrome: dermatofibrosis lenticularis disseminata presents with many asymmetric papules, nodules, plaques on trunk and extremities; can be present at birth; findings may be delayed until adulthood (autosomal dominant).

–Nevus mucinosis presents at birth, childhood, or adolescence; especially on the lower back.

–Hunter syndrome may be associated with a nevus mucinosis presenting as small firm papules (pebble-like) on arms, chest, scapular areas (X-linked recessive).

Expected results of diagnostic studies

Histopathology displays an increased amount of one or more dermal components as compared with adjacent clinically normal skin. Dermal components include collagen, elastin, and proteoglycan (mucin) (Figure 2).

Figure 2.

Collagenoma (Courtesy of Cloyce L. Stetson, MD).

Diagnosis confirmation

Smooth muscle hamartomas display a distinctive histopathology as do leiomyomas (which may show increased firmness with manual stroking of the site [pseudo-Darier sign]); pseudoxanthoma elasticum (which can mimic especially Buschke-Ollendorf syndrome) with characteristic location of papules, absence of bone findings, vascular disease, especially affecting Retina/GI tract/heart; and sclerotic fibromas associated with Cowden syndrome.

Who is at Risk for Developing this Disease?

At risk of developing the disease are patients with the following disorders:

Down syndrome

Buschke-Ollendorf syndrome: dermatofibrosis lenticularis disseminata, findings may be delayed until adulthood

Proteus syndrome: plantar cerebriform collagenoma

Tuberous sclerosis: Shagreen patch

Multiple endocrine neoplasis (MEN) 1: collagenoma

Hunter syndrome: nevus mucinosis

What is the Cause of the Disease?

Etiology

Localized increased dermal components in otherwise normal skin

Nevus anelasticus: decreased or degenerated dermal elastic fibers

Pathophysiology–mostly unknown

Buschke-Ollendorf Syndrome: heterozygous loss of function mutation of LEMD3 (MAN1)

Tuberous Sclerosis: mutations in TSC1 (hamartin) or TSC2 (tuberin)

Multiple Endocrine Neoplasia (MEN) 1: mutation in RET

Hunter Syndrome: mutation leading to reduced iduronate sulfatase

Systemic Implications and Complications

Buschke-Ollendorf Syndrome: osteopoikilosis, melorheostosis (joint contractures are associated with this)

Proteus Syndrome: asymmetric soft tissue and skeletal overgrowth. Organomegaly, benign tumors including visceral, cystic disease of visceral organs (especially lung and kidneys), internal vascular malformations, deep venous thombosis and pulmonary embolism

Familial cutaneous collagenoma: cardiac disease, hypogonadism

Tuberous Sclerosis: seizures, mental retardation, hamartomas of internal organs (especially brain, eyes, heart, lungs, kidney)

Multiple endocrine neoplasia (MEN) 1: Triad of parathyroid tumors, pancreatic islet tumors, pituitary hyperplasia or tumor

Hunter Syndrome: central nervcous system (CNS) (intellectual defeciency, deafness), skeletal abnormalities, coronary heart disease, hepatosplenomegaly, respiratory disease

Treatment Options

The only real options for these lesions is excision if removal is needed or desired. Treatment with laser ablation has been described. Cosmetic or symptomatic improvement by partial removal or shaving them flat could be considered to reduce the overall size.

Optimal Therapeutic Approach for this Disease

Excision if removal is needed or desired.

Patient Management

Biopsies are suggested to be into subcutaneous tissue and include adjacent normal skin to compare with the suspected connective tissue nevus. If concern for systemic associations, then need appropriate workup and referral. Especially if concern for tuberous sclerosis, a Wood's lamp may be helpful in screening for hypopigmented macules or patches.

Unusual Clinical Scenarios to Consider in Patient Management

Medallion-like dermal dendrocyte hamartoma: erythematous atrophic wrinkled medallion-shaped patches or nodules resembling macular atrophy (anetoderma), aplasia cutis, and atrophoderma. Present at birth, rarely reported, and no other associated problems.

What is the Evidence?

Carmen Boente, M, Primc, NB, Asial, RA, Winik, BC. "Familial cutaneous collagenoma: a clinicopathologic study of two new cases". Pediatr Dermatol. vol. 21. 2004. pp. 33-8.

(Case report of a family with familial cutaneous collagenoma and review of the literature of connective tissue nevi.)

Shah, KR, Wells, MJ, Stetson, CL. "CD34+ connective tissue nevi: Are they unusual?". J Am Acad Dermatol . vol. 62. 2010. pp. 719-20.

(Case report followed by a retrospective analysis of connective tissue nevi of the collagen-type as related to CD34 positivity.)

Shah, KN, Anderson, E, Junkins-Hopkins, J, James, WD. "Medallion-like dermal dendrocyte hamartoma". Pediatr Dermatol . vol. 24. 2007. pp. 632-6.

(Case report and review of medallion-like dermal dendrocyte hamartoma.)

Biesecker, L. "The challenges of Proteus syndrome: diagnosis and management". Eur J Hum Genet . vol. 14. 2006. pp. 1151-7.

(Review of Proteus syndrome focusing on diagnosis and management.)

Ryder, HF, Antaya, RJ. "Nevus anelasticus, papular elastorrhexis, and eruptive collagenoma: clinically similar entities with focal absence of elastic fibers in childhood". Pediatr Dermatol. vol. 22. 2005. pp. 153-7.

(Case report of papular elastorrhexis and a comparison of three clinically similar entities with focal absence, decrease, or degenerated elastic fibers.)

Lee, JS, Ong, BH, Ng, SK. "Clinicopathologic challenge. Nevus mucinosis". Int J Dermatol . vol. 47. 2008. pp. 989-90.

(Case report and review of nevus mucinosis.)

Lonergan, CL, Payne, AR, Wilson, WG, Patterson, JW, English, JC. "What syndrome is this? Hunter syndrome". Pediatr Dermatol. vol. 21. 2004. pp. 679-81.

(Case report and review of Hunter syndrome.)

Jabbour, SA, Davidovici, BB, Worf, R. "Rare syndromes". Clin Dermatol . vol. 24. 2006. pp. 299-316.

(Review of some endocrine abnormality syndromes associated with cutaneous features.)

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