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Year : 2015  |  Volume : 35  |  Issue : 1  |  Page : 45-47

Perforating collagenosis with cutaneous neurofibroma

Department of Pathology, SGRR Institute of Medical & Health Sciences, Dehradun, Uttarakhand, India

Date of Submission12-Nov-2014
Date of Acceptance31-Dec-2014
Date of Web Publication7-Aug-2015

Correspondence Address:
Bhardwaj Aparna
Department of Pathology, SGRR Institute of Medical & Health Sciences, Patel Nagar, Dehradun 248001, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1110-6530.162480

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Perforating collagenosis is an uncommon distinct dermatosis characterized by transepidermal elimination of altered collagen through the epidermis. It was first described by Mehergan et al in 1967 and till date etiology of this disease is unknown. Herein, we describe a case of acquired perforating collagenosis in a 16 year old male who presented with multiple discrete pruritic and hyperkeratotic umblicated lesions on trunk, upper and lower extrmities and scalp for more than three years. Skin biopsy revealed a typical hyperkeratotic papule with a central plug, surrounding epidermal hyperplasia, inflammatory cells and vertically oriented fibers of collagen. On Masson's trichrome staining, perforating bundles of collagen were seen extending to the surface. A diagnosis of perforating collagenosis was made. The patient during follow up subsequently developed solitary nodule over the anterior chest wall which on histopathological examination revealed well circumscribed spindle shaped neoplasm in the dermis. These cells exibited wavy nuclei in a collagenous stroma along with proliferation of Schwann cells and fibroblasts. In view of these findings, the diagnosis was modified to reactive perforating collagenosis with cutaneous neurofibroma.

Keywords: Pruritis, neurofibroma, perforating collagenosis

How to cite this article:
Aparna B, Sanjeev K, Brijesh T, Sandip K. Perforating collagenosis with cutaneous neurofibroma. Egypt J Dermatol Venerol 2015;35:45-7

How to cite this URL:
Aparna B, Sanjeev K, Brijesh T, Sandip K. Perforating collagenosis with cutaneous neurofibroma. Egypt J Dermatol Venerol [serial online] 2015 [cited 2020 May 31];35:45-7. Available from: http://www.ejdv.eg.net/text.asp?2015/35/1/45/162480

  Introduction Top

Reactive perforating collagenosis (RPC) is a rare skin condition. This is commonly seen in patients with a certain genetic predisposition or underlying disease such as diabetes mellitus, chronic renal failure, hypothyroidism, hyperparathyroidism, neurodermatitis, lymphoma, AIDS, scabies, and herpes zoster infection [1],[2],[3],[4],[5]. Two types have been recognized: childhood or inherited form and adult or acquired form. The childhood form of disease has an autosomal recessive mode of inheritance and was first described by Mehregan and colleagues [6],[7]. Acquired reactive perforating collagenosis (ARPC) is a skin disorder that is characterized by transepidermal elimination of altered collagen through the epidermis [7].

Herein, we present a rare case of RPC in a patient who subsequently developed solitary cutaneous neurofibroma during follow-up.

  Case report Top

A 16-year-old boy presented to the skin OPD with complaint of hyperpigmented papulonodular eruptions over the entire body associated with severe pruritus for last 3 years.

These lesions initially presented on the dorsum of hand but gradually spread over the entire body. At the time of presentation, there were numerous dome-shaped nodules 2-3 mm in size, which were characterized by central umblications containing firm keratotic plugs. Erythema was also observed around these lesions [Figure 1]. These lesions were in different stages of development. In addition, areas of residual scars were noted. Family history as well as history of predisposing trauma was negative in the patient. Detailed hematologic and biochemical investigations revealed: Hemoglobin 13.4 g/dl; total leucocytes count 6600 cells/mm 3 with 70% polymorphs, 24% lymphocytes, and 6% eosinophils; erythrocyte sedimentation rate 40 mm first hour; blood urea 52 mg/dl; serum creatinine 0.8 mg/dl; blood uric acid level 6.0 mg/dl; and blood sugar (fasting) 90 mg/dl. All other hematological parameters were within normal limit. On the basis of these findings, clinical differential diagnosis of perforating collagenosis and Kyrle's disease was given. Punch biopsy was taken from a lesion on the dorsum of hand. Histopathological evaluation showed a cup-shaped epidermal depression filled with parakeratotic keratinocytes and vertically oriented fibers of collagen. The adjacent epidermis showed hyperkeratosis, parakeratosis, and moderate degree of acanthosis [Figure 2]. Masson's trichrome stain showed bundles of collagen perforating the epidermis [Figure 3]. On the basis of these findings, a diagnosis of ARPC was rendered. The patient was put on topical steroids and retinoic acid along with narrow ultraviolet B treatment.
Figure 1: Umblicated and erythematous papules with adherent central keratotic plug.

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Figure 2: Cup-shaped crater filled with necrotic debris and vertically oriented collagen bundles (H and E, ×100).

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Figure 3: Collagen fibers amidst necrotic keratinocytes (MT, ×100). Inset: vertically oriented collagen bundles perforating the epidermis (Masson trichrome, ×400) .

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After a period of 2 months on therapy, the patient developed a solitary nodule over the anterior wall of chest [Figure 4]. On clinical examination, the nodule was firm, painless, and had a restricted mobility. Clinically, a differential diagnosis of lipoma and neurofibroma was rendered. The nodule was biopsied, and on gross examination it measured 3×2 cm in size, was nodular in appearance, and pale white in color with well-delineated edges.
Figure 4: Firm solitary nodule over the anterior chest wall .

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Microscopically, it showed a circumscribed neoplasm in the dermis comprising spindle-shaped cells having wavy nuclei. There was proliferation of fibroblasts and Schwann cells in a collagenous stroma along with sprinkling of lymphocytes and mast cells. On the basis of these findings, a diagnosis of neurofibroma was made [Figure 5]. Immunohistochemistry was not performed due to the distinctive histological features.
Figure 5: Spindle-shaped cells with wavy nuclei along with nerve bundles in fibrocollagenous stroma (H and E, ×100).

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  Discussion Top

The perforating dermatoses are a group of conditions characterized by the cardinal histological features of transepidermal elimination of some components of the dermis. It includes RPC, elastosis perforans serpiginosa, Kyrle's disease, and perforating folliculitis [8]. This classification was made on the type of epidermal damage and the characteristics of material eliminated [9]. RPC was first described by Mehregan et al. [7]. The pathogenesis of this disease is unknown, and it was postulated by him that mild superficial trauma in genetically susceptible person leads to necrobiosis of collagen in dermal papillae, which is subsequently eliminated from the dermis by means of transepithelial elimination [7]. In RPC, the defect occurs in papillary dermis where histochemically altered ultrastructurally intact type IV collagen is present [10]. Linear development of eruption along the scratch marks (Koebner's phenomenon) is seen in almost all patients with RPC. However, such lesions do not develop after deep incision wounds but may appear following needle scratch injury [11]. Thus, conclusion can be drawn that a primary defect is in the pars papillaris of the dermis, where a post-traumatic stimulation leads to necrobiotic change that will initiate a lesion of RPC. Lesions of RPC are intensely itchy clinically manifest as umblicated papules with central adherent keratotic plug. At any time, lesions may be seen in various stages of development.

The possible biochemical or immunological mechanisms of the underlying systemic diseases, which are potentially responsible for the development and appearance of ARPC, are still under investigation.

A number of differential diagnoses needs to be considered clinically for the superficial nodule over the chest wall that developed in our patient subsequently. They include pyogenic granuloma, benign or malignant tumors originating from muscle, nerve or fat tissue, and regional lymph nodes.

Diagnosing neurogenic tumors requires imaging and histological studies. Neurofibromas can develop in any encapsulated nerve of the body and can be divided into:

  1. Solitary neurofibromas, which are well-defined and circumscribed tumors;
  2. Plexiforms neurofibromas, which are diffuse masses formed of neural fibers;
  3. Multiple plexiform neurofibroma associated with hereditary diseases; and
  4. Infiltrating neurofibromas called diffuse.

Neurofibromas are common in neurofibromatosis, which is a hereditary autosomal dominant disorder. Solitary neurofibromas may be seen in neurofibromatosis; however, there is no definite association of the two entities [12]. All subclinical forms of neurofibromatosis must be excluded to make a diagnosis of solitary neurofibroma.

Solitary neurofibromas are solid, well-circumscribed, differentiated, and nonencapsulated tumors that tend to grow slowly in the skin of people at a younger age and do not exhibit sex predilection [13].

To the best of our knowledge, this is perhaps the first case of solitary neurofibroma in a patient presently with perforating collagenosis. Although the association between two entities seems unclear, they seem to form two distinct presentations on a common platform.

  Acknowledgements Top

Conflicts of interest

None declared.

  References Top

Faver IR, Daoud MS, Su WP. Acquired reactive perforating collagenosis. J Am Acad Dermatol 1994; 91 :405-414.  Back to cited text no. 1
Pedragosa R, Knobel HJ, Huguet P, Oristrell J, Valdes M, Bosch JA. Reactive perforating collagenosis in Hodgkin′s disease. Am J Dermatopathol 1987; 9 :41-44.  Back to cited text no. 2
Bank DE, Cohen PR, Kohn SR. Reactive perforating collagenosis in a setting of double disaster: acquired immunodeficiency syndrome and end-stage renal disease. J Am Acad Dermatol 1989; 21(Pt 2) :371-374.  Back to cited text no. 3
Brinkmeier T, Herbst RA, Frosch PJ. Reactive perforating collagenosis associated with scabies in a diabetic. J Eur Acad Dermatol Venereol 2004; 18 :588-590.  Back to cited text no. 4
Bang SW, Kim YK, Wang KV. Acquired perforating collagenosis, unilateral umblicated papule along the lesion of herpes zoster. J Am Acad Dermatol 1997; 36 :778-779.  Back to cited text no. 5
Kanan MW. Familial reactive perforating collagenosis and intolerance to cold. Br J Dermatol 1974; 91 :405-414.  Back to cited text no. 6
Mehregan AH, Schwartz OD, Livingood CS. Reactive perforating collagenosis. Arch Dermatol 1967; 96 :277-282.  Back to cited text no. 7
Lee SJ, Jang JW, Lee WC, Kim DW, Jun JB, Bae HI, Kim DJ. Perforating disorder caused by salt-water application and its experimental induction. Int J Dermatol 2005; 44 :210-214.  Back to cited text no. 8
Gambichler T, Birkner L, Slucker M, Othlinghaus N, Altmeyer P, Kreuter A. Up-regulation of transforming growth factor - beta 3 and extracellular matrix proteins in acquired reactive perforating collagenosis. J Am Acad Dermatol 2009; 60 :463-469.  Back to cited text no. 9
Herzinger T, Schirren CG, Sander CA, Jansen T, Kind P. Reactive perforating collagenosis - transepidermal elimination of type IV collagen. Clin Exp Dermatol 1996; 21 :279-282.  Back to cited text no. 10
Bovenmyer DA. Epidermal production of the lesion. Arch Dermatol 1970; 102 :313-317.  Back to cited text no. 11
Rha S, Byun J, Jung S, Chun J, Lee H, Lee J. Neurogenic tumors in the abdomen: tumor types and imaging characteristic. Radiographics 2003; 23 :29-43.  Back to cited text no. 12
Venadero F, Rodriguez M, Merelo V, Cervantes A, Ramos A. Solitary Neurofibroma communication of cases. Rev Cent Dermatol Pascua 2004; 13 :99-102.  Back to cited text no. 13


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


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