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      Familial Reactive Perforating Collagenosis: A Report of Two Cases

      case-report

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          Abstract

          Reactive perforating collagenosis (RPC) is a rare form of transepithelial elimination, in which genetically altered collagen is extruded through the epidermis. Of the acquired and inherited form, inherited form is extremely rare. Here, we present two cases of inherited form of RPC in a family.

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          Acquired perforating dermatosis. Evidence for combined transepidermal elimination of both collagen and elastic fibers.

          R P Rapini, A A Herbert, C R Drucker (1989)
          Patients with renal disease or diabetes mellitus often have an acquired perforating disease of the skin develop that is characterized by hyperkeratotic papules with transepidermal elimination of degenerated material, including collagen or elastic fibers. There is disagreement regarding the most appropriate name for this disease. The pathologic process has been identified by various authors as reactive perforating collagenosis, elastosis perforans serpiginosa, perforating folliculitis, or Kyrle's disease. We have seen four patients with renal disease and/or diabetes whose skin biopsy specimens demonstrated combined transepidermal elimination of both collagen and elastic fibers. This finding is not characteristically seen in any of the previously defined perforating diseases. Since the histologic findings vary greatly in different lesions from different patients with renal disease, we recommend referring to this process as "acquired perforating dermatosis." It is best not to create a new category of perforating disease or to say that a given patient has one of the other four diseases based on random sampling of only a few lesions.
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            Acquired reactive perforating collagenosis. Report of six cases and review of the literature.

            S. H. Su, Tarek Daoud, I Faver (1994)
            Reactive perforating collagenosis (RPC) is characterized by transepithelial elimination of altered collagen. Two types have been recognized: the childhood form and the adult form. Our purpose was to review the associated disorders, evaluate the possible causes, and set criteria for the diagnosis of the disease. The clinical and pathologic findings of six patients with the adult form of RPC are reviewed. The literature on this subject is compared with our findings. Pruritus was reported in all cases. Treatment of pruritus cleared the lesions in many patients. This is the first report of an association between RPC and hyperparathyroidism, hypothyroidism, liver disorders, and neurodermatitis. Various disorders can be associated with the adult form of RPC. Pruritus is the common factor among all types. Control of itching might be helpful for clearing the lesions. We propose the following diagnostic criteria for acquired RPC: (1) histopathologic findings of elimination of necrotic basophilic collagen tissue into a cup-shaped epidermal depression, (2) clinical presentation of umbilicated papules or nodules with a central adherent keratotic plug, and (3) onset of skin lesions after the age of 18 years.
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              Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases.

              Alampalli Ramesh, J. B. Singh, A Kubba … (2007)
              To study the clinical and histopathological features of familial reactive perforating collagenosis (RPC). Ten patients, including affected siblings in three, took part in the study. Parental consanguinity was present in one. Histopathological study was performed in all patients. The eruptions appeared mainly during infancy or early childhood as papules showing a central plug, which subsided within 10 weeks. Areas commonly affected were the face, extremities and trunk. Rare sites were the scalp, ears and buttocks. One pregnant woman, in whom RPC had first manifested around puberty, had relatively widespread lesions. In those with seasonal variation, recurrences were seen a little more frequently in summer than in winter owing to the longer duration of the former. Histopathology confirmed the diagnosis with follicular involvement in four cases. In two patients whose backs were also affected, the lesions went unnoticed, as they were small and inconspicuous. In addition, the brother of a girl with RPC who claimed to be free of the dermatosis, had facial scars suggestive of RPC in the past. Familial RPC can remain quiescent for a long period and the inherited defect not only shows extreme variability in expression but also demonstrates that lesions can be few and localized so as to escape notice in individuals and family members presenting with this benign, uncommon and self-subsiding dermatosis. In all patients topical retinoic acid was helpful in early regression. Sunscreens may mitigate the severity of RPC in those whose lesions are precipitated in summer but this needs further evaluation.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Indian J Dermatol
                Journal ID (iso-abbrev): Indian J Dermatol
                Journal ID (publisher-id): IJD
                Title: Indian Journal of Dermatology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0019-5154
                ISSN (Electronic): 1998-3611
                Publication date (Print): May-Jun 2014
                Volume: 59
                Issue: 3
                Pages: 287-289
                Affiliations
                [1] From the Department of Dermatology, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, India
                [1 ] Department of Pathology, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, India
                Author notes
                Address for correspondence: Dr. Varadraj V. Pai, Department of Dermatology, SDM College of Medical Sciences, Dharwad - 580 009, Karnataka, India. E-mail: docpai@ 123456rediffmail.com
                Article
                Publisher ID: IJD-59-287
                DOI: 10.4103/0019-5154.131405
                PMC ID: 4037952
                PubMed ID: 24891662
                SO-VID: 0a60aa02-93a2-400e-b642-b9f5eb57dbe4
                Copyright © Copyright: © Indian Journal of Dermatology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : September 2012
                Date accepted : November 2012
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dermatology
                Keywords: familial reactive perforating collagenosis,inherited,transepidermal elimination
                Data availability:
                ScienceOpen disciplines: Dermatology
                Keywords: familial reactive perforating collagenosis, inherited, transepidermal elimination

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