Xeroderma pigmentosum and skin cancers: Report of two cases

How to cite this article:
Swami SY, Shrivastav S, Musande R, D’Costa G. Xeroderma pigmentosum and skin cancers: Report of two cases. Ann Trop Med Public Health 2015;8:141-3


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Swami SY, Shrivastav S, Musande R, D’Costa G. Xeroderma pigmentosum and skin cancers: Report of two cases. Ann Trop Med Public Health [serial online] 2015 [cited 2021 Apr 14];8:141-3. Available from: https://www.atmph.org/text.asp?2015/8/4/141/162398

Dear Sir,

Herba and Kaposi first described Xeroderma Pigmentosum (XP) in 1974. [1],[2] XP is a rare disorder, inherited as an autosomal recessive genodermatosis. It is characterized by photosensitivity, freckly pigmented changes, premature skin aging, telangiectasia, warty and papillomatous growths, and malignant tumor development at a later stage. It results from mutation in seven nucleotide excision repair gene (XPA to XPG) complementation groups and one postreplication repair defect (XP variant, XP-V). [3]

In general, the signs and symptoms of XP starts from the age of 1-2 years. The disease begins with photosensitivity and burning sensation after nominal sun exposure in 60% of cases. Cutaneous manifestations include dryness of skin (xeroderma), pigmentation (pigmentosum), freckling, and telangiectasis. Ocular abnormalities include photophobia, ectropion, conjunctival infection, and keratitis, with incidence of tumors like squamous cell carcinoma (SCC), melanoma, and epithelioma. [3]

A 7-year-old male patient [Figure 1] appeared with complaints of a nodule over the scalp. He was a known case of XP, diagnosed at 1 year of age with increased photosensitivity and photophobia. He developed a swelling on the scalp region that increased progressively to attain the size of 5 × 3 cm over the past 2 months. The swelling was irregular, nonmobile, tender, and firm to hard. A diagnosis of pyogenic granuloma was made and excision biopsy was done. The histopathological diagnosis was well-differentiated SCC [Figure 2] and [Figure 3].

Figure 1: 7-year-old male patient with XP and excised scalp nodule

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Figure 2: Sheets of polyhedral cells infi ltrating in to the underlying dermis. [Hematoxylin and eosin staining or H&E;: 10×]

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Figure 3: Sheets of tumor cells with keratin pearl formation [H&E;: 10×]

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A 19-year-old female appeared with complaints of swelling over the chin on the right side over the past 6 months. She had a history of pigmented lesions present over the face, hands and legs from the age of 6 years. On examination [Figure 4], a nodular and fungating mass of 6×7 cm on the right side of the chin was noted with areas of ulcerations and pus accumulation. Fine-needle aspiration cytology (FNAC) revealed a cellular smear with highly pleomorphic and sparsely cohesive spindle-shaped tumor cells arranged singly and in clusters [Figure 5]. Individual tumor cells showed hyperchromatic nuclei with prominent nucleoli surrounded by abundant eosinophilic cytoplasm with melanin pigment [Figure 6]. Histopathology [Figure 7] revealed tumor tissue composed of oval to spindle-shaped cells with hyperchromatic nuclei and intra- as well as extracellular melanin pigment deposition, consistent with malignant melanoma (MM), nodular variant. There was focal junctional activity but no epidermal or pagetoid spread of the tumor.

Figure 4: 19-year-old female with nodular and fungating mass on chin

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Figure 5: FNAC showing pleomorphic tumor cells arranged in groups and clusters [May-Grünwald-Giemsa staining or MGG: 10×]

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Figure 6: FNAC showing tumor cells with hyperchromatic nuclei, prominent nucleoli surrounded by abundant eosinophilic cytoplasm with melanin pigment [Pap: 40×]

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Figure 7: Tumor tissue composed of oval to spindle-shaped cells with hyperchromatic nuclei and melanin deposition [H&E;: 10×]

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There are very few cases of XP reported in the literature from India. XP is an autosomal recessive genetic disease caused by defects in the normal repair of the DNA of various cutaneous and ocular cell types damaged by exposure to sunlight. [3] Kramer et al. found equal sex predilection and significant parental consanguinity, confirming an autosomal recessive inheritance pattern. [4] Patients with XP develop multiple malignant neoplasms at an early age. The tumors include SCC and basal cell carcinoma (BCC). In 3% of the patients, MM develops. [5],[6] The mean age at diagnosis of XP-associated skin cancer is 8 years, 50 years younger than in the general population. [7]

In our XP cases, SCC developed at 7 years of age and MM at 19 years. The reported incidence of melanoma arising in XP is approximately 2,000 times greater than normal. [8],[9]


XP is a horribly disfiguring disease that needs the expertise of dermatologists, plastic surgeons, rehabilitation experts, and sociologists. [10]

Prenatal diagnosis is the only way to prevent this disease. [11] Various malignancies may occur at an early age in XP cases, so early diagnosis and management may prove fruitful. Genetic counseling implicating the effect of consanguineous marriages should be emphasized. Every case being reported might help us to learn about the incidence and prevalence of XP in India, which is yet unknown. [3]

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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Source of Support: None, Conflict of Interest: None

Read associated Erratum: Erratum: Xeroderma pigmentosum and skin cancers: Report of two cases with this article

DOI: 10.4103/1755-6783.162398



[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]

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