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      Basaloid Squamous Carcinoma of Skin Associated with Xeroderma Pigmentosum in an 8-year-old Child: A Rare Entity

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          Abstract

          Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet (UV) light, due to defects in deoxyribonucleic acid (DNA) repair. Basaloid squamous cell carcinoma is a rare aggressive variant of squamous cell carcinoma. Patients with XP are at increased risk of developing cutaneous malignancy and are commonly associated with squamous carcinoma. We report an extremely rare case of 8-year-old child with XP along with basaloidsquamous carcinoma of skin; and review of literature related to it.

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          Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.

          Carrie Scotto, K. Kraemer, Moon-Kyu Lee (1987)
          Quantitative frequencies of clinical abnormalities in xeroderma pigmentosum were estimated by abstracting published descriptions of 830 patients in 297 articles obtained from a survey of the medical literature from 1874 to 1982. The median patient age was 12 years with nearly equal numbers of male and female patients. Cutaneous symptoms (sun sensitivity or freckling) had a median age of onset of between 1 and 2 years. Forty-five percent of the patients described had basal cell carcinoma or squamous cell carcinoma of the skin. The median age of first nonmelanoma skin cancer among patients with xeroderma pigmentosum was 8 years, more than 50 years less than that among patients with skin cancer in the United States. Melanomas were reported in 5% of patients. Ninety-seven percent of the reported basal and squamous cell carcinomas and 65% of the melanomas in patients with xeroderma pigmentosum occurred on the face, head, or neck. Seventy percent probability of survival was attained at age 40 years, a 28-year reduction in comparison with the US general population. Ocular abnormalities were reported in 40% of the patients described and were restricted to tissues exposed to ultraviolet radiation (lid, conjunctiva, and cornea) and included ectropion, corneal opacity leading to blindness, and neoplasms. Neurologic abnormalities were found in 18% of the cases reported, consisting of progressive mental deterioration, hyporeflexia or areflexia, and progressive deafness in some patients in association with dwarfism and immature sexual development. There was scant information concerning the efficacy of any therapeutic regimen.
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            Prognostic factors for metastasis in squamous cell carcinoma of the skin.

            Emma Lang, Christine Marcusen, Basil S Cherpelis (2002)
            Squamous cell carcinoma (SCC) of the skin exhibits a significant propensity to metastasize. A number of variables have been reported to influence the tendency of SCC to metastasize. Because of the increasing incidence of skin cancer, it is becoming increasingly important to identify those neoplasms which are biologically more aggressive. We report 25 cases of metastatic SCC and compare them to 175 cases of nonmetastasizing SCC treated during the same period. To characterize tumors with the greatest tendency to metastasize. A tumor registry from the Dermatologic Surgery Unit at the Medical University of South Carolina was accessed to obtain records on 200 patients diagnosed with invasive SCC managed by Mohs surgery from 1988 to 1998. A retrospective analysis was conducted. The characteristics of patients with metastatic SCC and those with nonmetastatic SCC were compared using the chi-squared test and Fisher's exact test. Of 200 tumors, 25 (12.5%) metastasized. Size, Clark's level, degree of differentiation, the presence of small tumor nests, infiltrative tumor strands, single-cell infiltration, perineural invasion, acantholysis, and recurrence all correlated strongly with metastasis. Location, ulceration, inflammation, and Breslow depth did not correlate with the development of metastasis. Patients with tumors that exhibit certain clinical and histologic features are more likely to metastasize and need close follow-up to detect recurrence and metastasis early, allowing for appropriate life-saving intervention. Sentinel lymph node biopsy should be considered in patients with high-risk SCC.
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              Invasive squamous cell carcinoma of the skin: defining a high-risk group.

              Jeffrey Gershenwald, Robert T. Mullen, Yan Xing … (2006)
              Unlike its more common non-invasive form, invasive squamous cell carcinoma (SCC) of the skin can be biologically aggressive and is prone to recur. The objectives of this study were to identify relevant clinicopathologic prognostic factors associated with the outcomes of patients with invasive SCC in order to define a high-risk group. We retrospectively reviewed the records of patients with invasive cutaneous SCC of the trunk or extremities who received surgical treatment at a tertiary care cancer center over the past 10 years. We examined the patterns of presentation, all known clinical and histological risk factors for recurrence, and their association with survival. 136 patients were identified, of whom 102 (74%) were male. Patterns of presentation included primary (n = 91), locally recurrent (n = 16), regional nodal (n = 24), and distant (n = 5) disease. Univariate analysis identified poorly differentiated carcinomas (hazard ratio [HR] = 2.92, P = .016), scar carcinomas (HR = 3.12, P = .008), tumor size > 2 cm (HR = 3.79, P = .006), and regional nodal disease (HR = 5.77, P < .0001) as significant risk factors for recurrence or death. On multivariate analysis, however, only regional nodal disease at presentation (HR = 7.64, P < .0001) was found to be significant. Patients with invasive SCCs metastatic to regional nodes constitute a group at high risk for recurrence and death. Such patients should be considered for adjuvant therapy trials.
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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): Nov-Dec 2014
                Volume: 59
                Issue: 6
                Page: 632
                Affiliations
                [1] From the Department of Head and Neck Oncology, Dr. B Borooah Cancer Institute, Guwahati, Assam, India
                [1 ] Department of Pathology, Dr. B Borooah Cancer Institute, Guwahati, Assam, India
                Author notes
                Address for correspondence: Dr. Tashnin Rahman, c/o Dr. A Rahman, House No 116, Gandhi Basti, Guwahati - 781 003, Assam, India. E-mail: drtashnin@ 123456yahoo.in
                Article
                Publisher ID: IJD-59-632d
                DOI: 10.4103/0019-5154.143577
                PMC ID: 4248529
                PubMed ID: 25484421
                SO-VID: 5bdd76a2-6ff6-4d0a-a850-34ea1ed9be2f
                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 : October 2012
                Date accepted : January 2013
                Categories
                Subject: E-IJD Case Report

                ScienceOpen disciplines: Dermatology
                Keywords: basaloid squamous carcinoma,cutaneous malignancy,xeroderma pigmentosum
                Data availability:
                ScienceOpen disciplines: Dermatology
                Keywords: basaloid squamous carcinoma, cutaneous malignancy, xeroderma pigmentosum

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