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CASE REPORT Table of Contents   
Year : 2009  |  Volume : 52  |  Issue : 4  |  Page : 524-526
A case of melanoma in xeroderma pigmentosum


Departments of Dermatology, Pathology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India

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Date of Web Publication1-Oct-2009
 

   Abstract 

Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. [1] It is a rare autosomal recessive disorder characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development due to cellular hypersensitivity to ultraviolet radiation resulting from a defect in DNA repair. The basic defect in XP is in nucleotide excision repair (NER), leading to deficient repair of damaged DNA. A 12-year-old boy presented with a large growth over the right side of the forehead. The lesion was first noticed before two years as a 2 x 2 cm 2 mass. It was slowly growing and attained the present size of 10 x 8 x 7 cm 3 . The surface showed ulceration with areas of hemorrhage and blackish pigmentation. Also, the patient had hyperpigmented macules over the skin since early childhood. The macules appeared initially over the face and later developed over the other areas of the body. The macules were more over the sun exposed areas. He also had photophobia and both eyes showed corneal opacities. Histopathological examination of the excised growth showed features consistent with melanoma. This case is being presented because of its rare association with xeroderma pigmentosum patients in India.

Keywords: Xeroderma pigmentosum, nucleotide excision repair, melanoma

How to cite this article:
Rao T N, Bhagyalaxmi A, Ahmed K, Mohana Rao T S, Venkatachalam K. A case of melanoma in xeroderma pigmentosum. Indian J Pathol Microbiol 2009;52:524-6

How to cite this URL:
Rao T N, Bhagyalaxmi A, Ahmed K, Mohana Rao T S, Venkatachalam K. A case of melanoma in xeroderma pigmentosum. Indian J Pathol Microbiol [serial online] 2009 [cited 2014 Aug 30];52:524-6. Available from: http://www.ijpmonline.org/text.asp?2009/52/4/524/56149



   Introduction Top


Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. [1] In 1882, Kaposi coined the term XP for the condition, referring to its characteristic dry, pigmented skin. It occurs with an estimated frequency of 1:250,000 in the US and somehow more common in Japan as reported by Robbins et al [2]

XP is a rare, genetically heterogeneous, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing, and the development of various cutaneous and internal malignancies at an early age. The basic defect underlying the clinical manifestations is a nucleotide excision repair (NER) defect leading to the defective repair of DNA damaged by ultraviolet (UV) radiation. [3] In addition; these patients also exhibit enhanced sensitivity to ionizing radiation. [4],[5] Its incidence in the Indian context is not significant.


   Case Report Top


A 12-year-old boy presented with hyperpigmented macules over the skin since early childhood. These macules initially appeared over the face and later involved entire body. He also had photophobia and developed corneal opacities in both the eyes.

Patient also complained of large mass over the forehead region [Figure 1]. It started initially as a 2 cm mass before two years, which has gradually grown and attained the present size.

There was no history of consanguinity and the parents and other siblings were normal. On examination, there were hyperpigmented macules seen all over the body and the lesions were more over the sun exposed areas. A large mass of 10 x 8 x 7 cm 3 was seen over the right frontal region. The mass surface showed ulceration with the areas of hemorrhage and blackish pigmentation [Figure 2]. Systemic examination showed mild hepatomegaly and other systems showed no abnormality. Eye examination revealed bilateral corneal opacities and conjunctival chemosis. Fundus examination was normal.

Routine blood, urine, and stool examination were within normal limits. Wedge biopsy taken from the mass over the frontal area showed sheets of tumor cells containing plenty of melanin pigment. High power view showed sheets of pleomorphic cells with vesicular nuclei, prominent nucleoli, and melanin pigment [Figure 3]. The histopathological features were consistent with those of invasive melanoma. Biopsy from hyperpigmented macular lesions over the body showed features consistent with xeroderma pigmentosum.

This case was referred to plastic surgery department, where he underwent excision of the tumor.

Gross pathology revealed a tumor measuring 10 x 8 x 7 cm 3 with areas of necrosis and hemorrhage and the cut section of the tumor mass revealed a solid black cut surface and microscopic examination was consistent with invasive melanoma. Since, the histopathological examination were diagnostic of melanoma, immunohistochemical markers were not done.


   Discussion Top


XP is a rare inherited disease. It occurs with an estimated frequency of 1:250,000 in US and somehow more common in Japan. [2] The parents being heterozygotes are healthy and children are affected. They have extreme sensitivity to the sun's ultraviolet rays and should be protected from these rays. Proper protection from the sun and early adequate treatment helps in increasing the longevity of these patients. Unless protected from sunlight, the skin and eyes may be severely damaged. [2],[6],[7]

Individuals with XP develop multiple cutaneous neoplasms at a young age. [8] Two important causes of mortality are metastatic malignant melanoma and squamous cell carcinoma. [9] Patients younger than 20 years have a 1000-fold increase in the incidence of nonmelanoma skin cancer and melanoma. The mean patient age of skin cancer is 8 years in the patients with XP compared to 60 years in the healthy population. Actinic damage occurs in the age range of 1-2 years.

In addition to the defects in the NER genes, UV-B radiation also has immunosuppressive effects that may be involved in the pathogenesis of XP. Although, typical symptoms of immune deficiency, such as multiple infections, are not usually observed in patients with XP, several immunologic abnormalities have been described in the skin of patients with XP. Clinical studies of the skin of patients with XP indicate prominent depletion of langerhans cells induced by UV radiation. Various other defects in cell-mediated immunity have been reported in XP. These defects include impaired cutaneous responses to recall antigens, decreased circulating T-helper cells-to-suppressor cells ratio, impaired lymphocyte proliferative responses to mitogen, impaired production of interferon in lymphocytes, and reduced natural killer cell activity.

Although, early detection and treatment of these cutaneous malignancies will reduce the morbidity and mortality, genetic counseling remains the most important measure for preventing xeroderma pigmentosum.

 
   References Top

1.von Hebra FR, Kaposi M. On disease of skin including the Exanthemata, (translated by W. Tay). London:The New Sydenham Society 1874;3:252-8.  Back to cited text no. 1      
2.Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum, an inherited disease with sun sensitivity, multiple cutaneous neoplasia and abnormal DNA repair, Ann inter Med 1974;80:221-48.  Back to cited text no. 2      
3.Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature 1968;218:652-6.   Back to cited text no. 3      
4.Arlett CF, Plowman PN, Rogers PB, Parris CN, Abbaszadeh F, Green MH, et al. Clinical and cellular ionizing radiation sensitivity in a patient with xeroderma pigmentosum. Br J Radiol 2006;79:510-7.   Back to cited text no. 4      
5.Arlett CF, Harcourt SA, Lehmann AR, Stevens S, Ferguson-Smith MA, Morley WN. Studies on a new case of xeroderma pigmentosum (XP 3BR) from complementation group G with cellular sensitivity to ionizing radiation carcinogenesis 1980;1:745-51.   Back to cited text no. 5      
6.Clark Lambert W. Genetic disease associated with DNA and chromosomal instability. In: Alpor IC ed. Dermatological Clinics. The Genodermatores Vol.5, No.1 Philadelphia. W.B. Sunders 1987;85-108.  Back to cited text no. 6      
7.Cleaver JE. DNA damage and repair in light sensitive human skin, J.Invest. Dermatol 1970;54:181-95.   Back to cited text no. 7      
8.Kramer KH. Xeroderma pigmentosum, In: Demis DJ, Dobson RL, Mc Guire J., eds. Clinical Dermatology,Vol.4,Unit-19-7. Hagerstown, Maryland: Harper and Row 1980;1-33.  Back to cited text no. 8      
9.English JS, Swerdlow AJ. The risk of malignant melanoma, internal malignancy in xeroderma pigmentosum patients, Br J Dermatol 1987;117:457-61.  Back to cited text no. 9      

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Correspondence Address:
T Narayana Rao
15-14-15, Doctor's Enclave, Near Collectors Office, Opposite Sagar Lodge, Visakhapatnam - 530002
India
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DOI: 10.4103/0377-4929.56149

PMID: 19805962

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    Figures

  [Figure 1], [Figure 2], [Figure 3]

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