AUTHOR AND EDITOR INFORMATION

Section 1 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Background

Reactive perforating collagenosis is a rare skin disorder characterized by the transepidermal elimination of altered collagen through the epidermis. The 2 distinct forms are an inherited form that manifests in childhood and an acquired form that occurs in adulthood.

Some authors reserve the term reactive perforating collagenosis for the rare inherited form of the disease, preferring the term acquired perforating dermatosis for the acquired from. This article describes both conditions.

The major perforating diseases include reactive perforating collagenosis, acquired perforating dermatosis, and elastosis perforans serpiginosa. Perforating folliculitis has been considered the fourth perforating disease, but whether this is a distinct entity is uncertain given that ruptured follicles are a feature of many infective conditions. Whether Kyrle disease is a distinct entity or part of the spectrum of acquired perforating dermatosis also remains controversial.

Pathophysiology

The major abnormality is focal damage to collagen followed by the elimination of the disrupted collagen through the epidermis. Cold or superficial blunt trauma often precipitates the lesions, especially in the inherited form. The acquired form usually occurs in patients with diabetes or chronic renal failure, especially those receiving dialysis. Other associations with systemic diseases, such as Hodgkin lymphoma, have been recorded.

Frequency

International

The inherited form of reactive perforating collagenosis is a rare disorder. No figures on prevalence are known. Fewer than 50 case reports exist in the world literature. Acquired perforating collagenosis is more common, occurring in as many as 10% of patients receiving maintenance hemodialysis.

Mortality/Morbidity

The lesions are intensely itchy, leaving some scarring after resolution.

Race

No racial variations in incidence are reported.

Sex

The sexual incidence is equal.

Age

• The inherited form usually presents in infancy or early childhood.
• The acquired form occurs in adults. In a series of 22 patients with acquired reactive perforating collagenosis (Faver, 1994), the mean patient age at presentation was 56 years.

CLINICAL

Section 3 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

History

• Small, asymptomatic keratotic papules develop after minor trauma. The lesions start as pin-sized lesions, and they grow into larger papules over a few weeks. They heal with residual minor scarring.
• Intense pruritus is a feature of acquired perforating collagenosis. In this condition, a history of diabetes or renal failure is often elicited.
• A positive family history may be elicited in the childhood form.

Physical

• Skin lesions
• • Flesh-colored, dome-shaped papules as large as 10 mm in diameter are typical. They have a keratinous plug. A giant variant has been described in 4 patients (Hoque, 2006).
  • Lesions may be in a linear pattern, exhibiting the Koebner phenomenon.
  • Residual scarring may be seen from previously healed lesions.
• Skin distribution
• • Lesions are most commonly found on the extensor surfaces of the limbs and the dorsa of the hands.
  • Lesions may also occur on the trunk and the face.

Causes

• The underlying cause is not known with certainty, but it is thought to be an abnormal response to superficial trauma, such as scratching. Papules have been reported following scratches, acne spots, and insect bites. Lesions of reactive perforating collagenosis have been experimentally induced in susceptible skin by scratching.
• The childhood form is inherited. A number of affected families have been reported. The mode of inheritance is not clear. Reports of affected families reveal autosomal dominant and autosomal recessive inheritance as well as sporadic cases.
• The acquired form may occur in association with chronic renal failure, often in a patient with underlying diabetes. In both the United Kingdom and the United States, the prevalence of this disorder in patients on dialysis is approximately 10%.
• Acquired perforating collagenosis can occur in other nephropathies without diabetes.
• Acquired perforating collagenosis has been reported in association with hypothyroidism, hyperparathyroidism, liver dysfunction, lymphoma, and periampullary carcinoma.

DIFFERENTIALS

Section 4 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

WORKUP

Section 5 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Lab Studies

• The purpose of any investigation is to search for underlying causes, particularly causes of pruritus.
• Urea and creatinine determinations are needed to detect any underlying renal impairment. A creatinine clearance test and other more complex renal investigations may be required.
• Ferritin levels and a full blood count can help in detecting anemia. Low iron stores can cause pruritus.
• Random glucose testing can help in detecting diabetes.
• Skin biopsy is essential to make a diagnosis.

Histologic Findings

The epidermis is typically perforated by disrupted collagen bundles extruding through the epidermis, forming a plug with a cup-shaped epidermal depression. Usually, a mild perivascular mononuclear cell infiltrate is present. Mild acanthosis is observed in the surrounding epidermis. Collagen stains are positive, but elastin stains typically fail to demonstrate elastin in the perforation. Elastin has been found in the central crater according to 2 case reports.

TREATMENT

Section 6 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Medical Care

Treatment of the lesions is often unsatisfactory; in many cases, the lesions are self-healing, but usually are recurrent.

• Anecdotal reports describe successful therapy with isotretinoin, allopurinol, doxycycline, UVB, and psoralen ultraviolet light A. Phototherapy is a good choice in patients with coexistent renal disease and associated pruritus.
• Topical steroids are usually not helpful.
• Emollients and systemic antihistamines seem helpful in controlling pruritus.

FOLLOW-UP

Section 7 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Complications

• The inherited form is not associated with any systemic complications.
• The acquired form occurs in patients with multiple medical problems, but whether the development of the lesions implies a poorer prognosis is unclear.

MISCELLANEOUS

Section 8 of 9  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• The major problem is misdiagnosis and confusion with other perforating disorders.

REFERENCES

Section 9 of 9

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• References

• Berger RS. Reactive perforating collagenosis of renal failure/diabetes responsive to topical retinoic acid. Cutis. Jun 1989;43(6):540-2. [Medline].
• Bovenmyer DA. Reactive perforating collagenosis. Experimental production of the lesion. Arch Dermatol. Sep 1970;102(3):313-7. [Medline].
• Brinkmeier T, Schaller J, Herbst RA, Frosch PJ. Successful treatment of acquired reactive perforating collagenosis with doxycycline. Acta Derm Venereol. 2002;82(5):393-5. [Medline].
• Brinkmeier T, Herbst RA, Frosch PJ. Reactive perforating collagenosis associated with scabies in a diabetic. J Eur Acad Dermatol Venereol. Sep 2004;18(5):588-90. [Medline].
• Chae KS, Park YM, Cho SH, Cho BK. Reactive perforating collagenosis associated with periampullary carcinoma. Br J Dermatol. Sep 1998;139(3):548-50. [Medline].
• Faver IR, Daoud MS, Su WP. Acquired reactive perforating collagenosis. Report of six cases and review of the literature. J Am Acad Dermatol. Apr 1994;30(4):575-80. [Medline].
• Hoque SR, Ameen M, Holden CA. Acquired reactive perforating collagenosis: four patients with a giant variant treated with allopurinol. Br J Dermatol. Apr 2006;154(4):759-62. [Medline].
• Millard PR, Young E, Harrison DE, Wojnarowska F. Reactive perforating collagenosis: light, ultrastructural and immunohistological studies. Histopathology. Oct 1986;10(10):1047-56. [Medline].
• Morton CA, Henderson IS, Jones MC. Acquired perforating dermatosis in a British dialysis population. Br J Dermatol. Nov 1996;135(5):671-7. [Medline].
• Munch M, Balslev E, Jemec GB. Treatment of perforating collagenosis of diabetes and renal failure with allopurinol. Clin Exp Dermatol. Nov 2000;25(8):615-6. [Medline].
• Patterson JW. The perforating disorders. J Am Acad Dermatol. Apr 1984;10(4):561-81. [Medline].
• Patterson JW. Progress in the perforating dermatoses. Arch Dermatol. Aug 1989;125(8):1121-3. [Medline].

Article Last Updated: Feb 22, 2007