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Year : 2018  |  Volume : 19  |  Issue : 2  |  Page : 161-163

Familial reactive perforating collagenosis in two siblings

Department of DVL, JJM Medical College, Davangere, Karnataka, India

Date of Web Publication26-Mar-2018

Correspondence Address:
K S Chandan
148, First Main Road, Seshadripuram, Bengaluru - 560 020, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_129_16

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Reactive perforating collagenosis (RPC) is a rare form of transepithelial elimination disorder, in which genetically altered collagen is extruded through the epidermis. Of the acquired and inherited form, the latter is extremely rare. Here, we present two cases of inherited form of RPC in siblings aged 4 and 7 years presented with a history of itchy raised lesions of 9 months and 3 years duration, respectively. Dermatological examination revealed multiple papules with a central keratotic plug distributed mainly over face and extensors of upper and lower extremities. Köebnerization was present. Skin biopsy revealed perforating collagen bundles in the upper dermis and epidermis.

Keywords: Familial reactive perforating collagenosis, inherited, transepithelial elimination

How to cite this article:
Rai AK, Kusagur MS, Chandan K S. Familial reactive perforating collagenosis in two siblings. Indian J Paediatr Dermatol 2018;19:161-3

How to cite this URL:
Rai AK, Kusagur MS, Chandan K S. Familial reactive perforating collagenosis in two siblings. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Dec 4];19:161-3. Available from: https://www.ijpd.in/text.asp?2018/19/2/161/206062

  Introduction Top

Reactive perforating collagenosis (RPC) is an uncommon, benign, perforating dermatosis of multifactorial etiology first described by Mehregan et al. in 1967.[1] Two patterns of RPC exist; the rare inherited form seen in children and the common acquired form seen in adults.[2] Fewer than fifty case reports of the inherited form of RPC exist in the world literature.[3] To the best of our knowledge, there are only about two reports from India occurring in siblings. Here, we present two cases of inherited form of RPC in siblings.

  Case Report Top

Two brothers aged 4 and 7 years presented to us with complaints of multiple, recurrent, dark-colored raised lesions on face, outer aspect of forearms, hands, and legs of 9 months and 3 years duration, respectively. The lesions would begin as skin-colored papules which later developed dark central material. Some of the lesions would heal on its own in about few weeks leaving behind residual pigmentation and scarring. Associated severe itching was present in all lesions. A history of new lesions occurring at sites of trauma in both was given by their mother. There was no history of similar complaints in other members of the family and there was no parental consanguinity.

On examination, both brothers had multiple, discrete, symmetrical, hyperpigmented, hyperkeratotic papules distributed over face, extensor aspect of forearms, hands, and legs [Figure 1] and [Figure 2]. Most of the lesions showed a central keratotic plug. Both brothers had evidence of köebnerization at multiple sites [Figure 3]. Multiple well-defined, atrophic scars of varying morphology were present over the face in both brothers [Figure 4]. Systemic examination was normal in both.
Figure 1: Multiple hyperkeratotic papules over the upper extremities in the elder brother

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Figure 2: Multiple hyperkeratotic papules over the upper extremities in the younger brother

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Figure 3: Köebner phenomenon seen in the elder brother over extensor aspect of upper extremity

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Figure 4: Multiple well-defined, atrophic scars of varying morphology present over the face of the younger brother

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Routine laboratory investigations were normal. Both brothers were subjected to skin biopsy from the lesion and stained with hematoxylin-eosin. Epidermis showed a hyperkeratotic crater filled with keratin, few polymorphonuclear leukocytes, and occasional acellular basophilic fibrous strands. The crater was lined by an acanthotic layer. The adjacent papillary dermis showed vertically oriented collagen bundles perforating the epidermis [Figure 5].
Figure 5: Histopathology of skin lesions revealing epidermal parakeratosis and perforating bundles of collagen (H and E, ×40)

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Based on clinical and histopathological features, a diagnosis of inherited form of RPC was made. The patients were started on topical tretinoin, emollients, intralesional steroids, and oral antihistamines, which resolved few lesions, but new lesions began to appear on follow-up in both brothers.

  Discussion Top

Familial RPC is a rare inherited form of transepithelial elimination (TEE) disorder, in which genetically altered collagen is extruded through the epidermis.[4] There are four classical TEE disorders which include RPC, elastosis perforans serpiginosa (EPS), perforating folliculitis (PF), and Kyrle's diseases (KD). Although an array of different terms are used to denote the TEE disorders, there has been considerable confusion over its nomenclature because it is now thought to represent essentially the same underlying process.[5]

Classic RPC is a genodermatosis that is inherited as an autosomal dominant or recessive trait. The exact cause is not known, but the basic defect seems to be a genetic abnormality of the collagen leading to its focal damage, which is then extruded as a result of necrolysis of the overlying epidermis.[6] Overexpression of transforming growth factor-ß3 and extracellular matrix proteins may be seen in these patients.[7] Elevated serum and tissue concentration of fibronectin may be responsible for inciting increased epithelial migration and proliferation culminating in perforation.[8]

The inherited form of RPC usually starts in infancy or early childhood and persists into adult life. The condition is associated with a positive family history in about two-thirds of patients.[9] Consanguinity in parents is present in some cases. There is a slight male preponderance with siblings being affected [4] as in our case. Pruritus is common and Köebner phenomenon may be present,[10] which was also seen in our case. In some cases, the disease is associated with intolerance to cold and improves in warm weather.[9] Lesions usually manifest as small papules on face, extensor aspect of upper and lower limbs and later increases in size to form an umbilicated papule with central adherent keratotic plugs, which regresses spontaneously in 6–8 weeks to leave a pigmented area or slight scar. Rarely, in few cases, lesions may not resolve spontaneously.[4]

The acquired form which is more common manifests after the age of 18 years and are usually associated with itching. The term acquired RPC fell out of favor some years ago to be replaced by acquired perforating dermatosis when it was demonstrated that both collagen and elastin were commonly involved.[11] It is mostly associated with diabetes, chronic renal failure, hypothyroidism, hyperparathyroidism, liver disorders, Hodgkin's disease, neurodermatitis, HIV, IgA nephropathy, hemodialysis, and internal neoplasia.[2],[11]

The condition may be mistaken clinically for molluscum contagiosum, papular urticaria, EPS, PF, perforating granuloma annulare, and KD, but the histology is characteristic.[6] Several treatment modalities such as topical retinoids, topical corticosteroids, emollients, intralesional steroids, phototherapy, oral antihistamines, allopurinol, methotrexate, and doxycycline have been tried with varying success rates.[12],[13]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Mehregan AH, Schwartz OD, Livingood CS. Reactive perforating collagenosis. Arch Dermatol 1967;96:277-82.  Back to cited text no. 1
Faver IR, Daoud MS, Su WP. Acquired reactive perforating collagenosis. Report of six cases and review of the literature. J Am Acad Dermatol 1994;30:575-80.  Back to cited text no. 2
Ramesh V, Sood N, Kubba A, Singh B, Makkar R. Familial reactive perforating collagenosis: A clinical, histopathological study of 10 cases. J Eur Acad Dermatol Venereol 2007;21:766-70.  Back to cited text no. 3
Verma R, Vasudevan B, Pragasam V, Deb P, Venugopal R, Mitra D. A rare case of familial reactive perforating collagenosis. Indian J Dermatol 2013;58:408.  Back to cited text no. 4
[PUBMED]  [Full text]  
Patterson JW. Progress in the perforating dermatoses. Arch Dermatol 1989;125:1121-3.  Back to cited text no. 5
Pai VV, Naveen KN, Athanikar SB, Shastri DU, Rai V. Familial reactive perforating collagenosis: A report of two cases. Indian J Dermatol 2014;59:287-9.  Back to cited text no. 6
[PUBMED]  [Full text]  
Gambichler T, Birkner L, Stücker M, Othlinghaus N, Altmeyer P, Kreuter A. Up-regulation of transforming growth factor-beta3 and extracellular matrix proteins in acquired reactive perforating collagenosis. J Am Acad Dermatol 2009;60:463-9.  Back to cited text no. 7
Morgan MB, Truitt CA, Taira J, Somach S, Pitha JV, Everett MA. Fibronectin and the extracellular matrix in the perforating disorders of the skin. Am J Dermatopathol 1998;20:147-54.  Back to cited text no. 8
Kanan MW. Familial reactive perforating collagenosis and intolerance to cold. Br J Dermatol 1974;91:405-14.  Back to cited text no. 9
Cerio R, Calnan CD, Wilson-Jones E. A clinic-pathological study of reactive perforating collagenosis: Report of 10 cases. Br J Dermatol 1987;117:16-7.  Back to cited text no. 10
Rapini RP, Herbert AA, Drucker CR. Acquired perforating dermatosis. Evidence for combined transepidermal elimination of both collagen and elastic fibers. Arch Dermatol 1989;125:1074-8.  Back to cited text no. 11
Bhat YJ, Manzoor S, Qayoom S, Wani R, Baba AN, Bhat AH. Familial reactive perforating collagenosis. Indian J Dermatol 2009;54:334-7.  Back to cited text no. 12
[PUBMED]  [Full text]  
Hoque SR, Ameen M, Holden CA. Acquired reactive perforating collagenosis: Four patients with a giant variant treated with allopurinol. Br J Dermatol 2006;154:759-62.  Back to cited text no. 13


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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