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 Table of Contents  
Year : 2015  |  Volume : 2  |  Issue : 4  |  Page : 187-191

Squamous cell carcinoma in a child with xeroderma pigmentosum: Clinical response with photon beam radiation therapy and review of literature

1 Department of Radiotherapy and Oncology Centre of Excellence, Ahmadu Bello University Teaching Hospital, Zaria, Nigeria
2 Department of Medicine, Dermatology Unit, Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Submission29-Mar-2015
Date of Acceptance30-Nov-2015
Date of Web Publication22-Dec-2015

Correspondence Address:
Adamu Abdullahi
Radiotherapy and Oncology Centre of Excellence, Ahmadu Bello University Teaching Hospital, Zaria
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2384-5147.172452

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Squamous cell carcinomas (SCCs) are among the most common malignancies in adults but are exceptionally rare in children. However, children with certain disease condition, for example, xeroderma pigmentosum (XP), a rare autosomal recessive inherited disease, is highly susceptible to the development of cancers including SCC. Reports on the use of ionizing radiation in the treatment of XP-related malignancy are very scanty in the literature. We hereby report our experience on the use of photon beam to treat a 7-year-old pupil with XP presenting with SCC of the anterior tongue and scalp.

Keywords: Photon beam therapy, squamous cell carcinoma, xeroderma pigmentosum

How to cite this article:
Abdullahi A, Muhammad YS, Ayodeji OT, Ayorinde DD. Squamous cell carcinoma in a child with xeroderma pigmentosum: Clinical response with photon beam radiation therapy and review of literature. Sub-Saharan Afr J Med 2015;2:187-91

How to cite this URL:
Abdullahi A, Muhammad YS, Ayodeji OT, Ayorinde DD. Squamous cell carcinoma in a child with xeroderma pigmentosum: Clinical response with photon beam radiation therapy and review of literature. Sub-Saharan Afr J Med [serial online] 2015 [cited 2024 Mar 2];2:187-91. Available from: https://www.ssajm.org/text.asp?2015/2/4/187/172452

  Introduction Top

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage to DNA caused by ultraviolet (UV) light is deficient. [1] It is associated with extreme sensitivity to sunlight resulting in sunburn, pigment changes in the skin with more than 1000-fold increase in the frequency of skin cancers including basal cell cancers, squamous cell cancers, and malignant melanoma in areas exposed to sunlight than the normal population. [2]

The most common defect in XP is an autosomal recessive genetic defect in which nucleotide excision repair (NER) enzymes are mutated, leading to a reduction in or elimination of NER in UV damaged DNA, and a few patients with defects in "postreplication" or "daughter-strand" repair are known as "XP variants." [3] Early symptoms are observed in sun-exposed areas of the skin and eyes and include poikiloderma, skin atrophy, skin cancers, and telangiectasias. Oral carcinomas, leukoplakia, and cheilitis are common oral manifestations. Multiple basal cell carcinomas (BCCs) (basaliomas) and other skin malignancies frequently occur at a young age in those with XP. In fact, metastatic malignant melanoma and squamous cell carcinoma (SCC) are the two most common causes of death in XP victims. [4]

Early diagnosis of this disease is, therefore, crucial for the timely implementation of therapeutic regimens as the consequences of a missed or late diagnosis can be devastating or even fatal. Extensive search in the literature revealed very few reported cases of XP in sub-Saharan Africa presenting with SCC. The reports from Nigeria [5] and Cameroon, [6] for example, highlighted only on the ocular manifestations of XP in children, while the reports from Senegal, [7] Ghana, [8] and Zimbabwe, [9] were a general overview of XP patients in their respective environments. Our report, however, dwelled specifically on SCC in an XP child and the use of photon beams in its treatment. Elsewhere, [10],[11],[12] However, there are documented cases of use of one form of ionizing radiation or the other in the treatment of malignancies, including SCC in children with XP. Our patient is probably the first reported case of SCC in a child with XP treated with photon beams in this part of the world. This case is reported to illustrate the use of ionizing radiation in the treatment of malignancies in XP patients in addition to other management strategies available for this incurable disease entity when they present with life-threatening complications, such as bleeding tumors. [10],[11],[12],[13]

  Case Report Top

A 7-year-old male pupil presented to the radiotherapy outpatient department of our hospital with raised, everted, and ulcerated ulcer on the anterior tongue with associated oral fetor. There were associated progressive difficulty in swallowing, poor vision, and generalized scaly pigmented skin which the parents noticed about 11 months prior. There were multiple bleeding and pus-discharging masses in the parieto-occipital and frontal regions of the scalp which first appeared about 9 months before presentation and became more florid over the last 3 months. The patient was a child of a termed uneventful pregnancy to nonconsanguineous parents. He had seven other siblings. He reportedly lost the four earlier siblings (a girl and three boys) to a condition with similar presentation; all died before reaching the age of 4 years (age at death was 29 months, 47 months, and 39 months, respectively). The remaining three siblings (a girl and 2 boys aged 16, 11, and 9 years, respectively) are alive and well without any symptoms related to XP. Both parents were unaffected by this condition and are of low socioeconomic background.

Symptoms date back to his third birthday when the mother noticed few skin changes including freckling on the face and upper limbs, hyper-pigmented and hypo-pigmented lesions on the face, and difficulty in seeing which progressed to complete blindness in the left eye at 4 years. He developed a nonhealing ulcer on the left antero-lateral aspect of the tongue at about age of six.

Physical examination revealed a small-for-age boy, with evidence of malnutrition, blind in the left eye, and had multiple inverted cone-like sharply demarcated lesions on the scalp. Some of the scalp lesions were oozing purulent discharges. The largest lesion measured 2 cm by 3 cm and the smallest 0.5 cm by 1 cm. The scalp was also covered with multiple scaly plaques, which were more pronounced on the fronto-parietal region. Most of his sun-exposed skin areas, especially the scalp, face, neck, and upper trunk were dry and scaly and had a mixture of mottled, hyper-pigmented, and hypo-pigmented lesions. These lesions were less obvious on the lower limbs and appeared atrophic with few areas of telangiectasia at the right fronto-parietal region [Figure 1].
Figure 1: Multiple facial and scalp lesions, cloudy right eye, but complete blindness in the left eye. Note, dry scaly skin with areas of hyper- and hypo-pigmented skin freckles

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The skin over the flexure surfaces of the wrist and elbows, bilaterally, appeared thickened. Both corneas were cloudy with loss of light perception in the left eye. An intra-oral examination was remarkable for a fungating papillomatous mass measuring 2 cm by 2 cm along the left lateral border of the anterior tongue, which appeared hemorrhagic and apparently infected. There is an associated oral fetor due to very poor oral hygiene with leukoplakia and cheilitis. There were no palpable cervical lymph nodes. There was no obvious neurological abnormality and other systems were normal. Blood investigations revealed a picture of reduced mean corpuscular volume, low mean corpuscular hemoglobin, hypochromia, and microcytosis which are consistent with findings in chronic anemia. The packed cell volume was 24%. Erythrocyte sedimentation rate, lipid profile, liver function, renal function, serum electrolytes tests, and urinalysis were all normal. Plain chest X-ray, ultrasonography of the abdomen and pelvis, and electrocardiography were within normal limits. Ophthalmic examination revealed bilateral conjunctivitis, dry eyes, cornea scarring, blepharitis, and bilateral cataracts.

Incisional biopsies of the scalp lesions and the tongue tumor were done. Histopathological examination of the biopsied specimens revealed well-differentiated SCC [Figure 2]. On the basis of the characteristic cutaneous and ocular lesions associated with sunshine hypersensitivity and histologically proven SCC of both tongue and scalp lesions, a diagnosis of XP in its final phase (phase three), the cancerous period was made.
Figure 2: (a) Microphotograph of tongue lesion. (b) Microphotograph demonstrating squamous cell carcinoma. Note, keratin pearl formation with nuclear hyperchromatism and cellular pleomorphism (H and E, ×40)

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The patient was transfused with blood to correct for anemia and treated with broad spectrum antibiotics (clavulanate potentiated amoxicillin and metronidazole) to control apparent scalp and intraoral infections. Because of imminent severe hemorrhage from the tongue tumor, he was planned for palliative external beam radiotherapy. Radiation dose of 45 Gy given in 25 fractions over a period of 5 weeks was administered to the anterior tongue using a left face orthogonal fields, and a further dose of 15 Gy given in five fractions over 5 days to ulcerated/bleeding scalp lesions by direct portal. The patient tolerated the radiation treatment well. The malignant tumors responded excellently to treatment with control of bleeding from the scalp, and the tongue lesion completely resolved within 9 weeks with improvement in feeding [Figure 3] and [Figure 4]. The patient had done well in the posttreatment period with no new tumor lesions arising from radiotherapy treated areas but was, however, lost to follow-up after 12 months.
Figure 3: Scalp of patient after palliative external beam radiotherapy showing regression of some scalp lesions and control of bleeding from the scalp

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Figure 4: Good local control of the anterior-lateral tongue squamous cell carcinoma lesion after palliative external beam radiotherapy. Note, facial skin freckles and areas of hyper- and hypo-pigmentation

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  Discussion Top

XP was first described in 1874 by Hebra and Kaposi. [14] Worldwide, its incidence varies widely, but is substantially high in Japan, Middle East, North Africa, and other areas with high levels of consanguinity. [15] The frequency in the United States and Europe is approximately one case per 1,000,000 population, [16] whereas in Japan, it is one case per 40,000. [17] XP is not unknown in sub-Saharan Africa; however, only few cases (about five) in West and Southern Africa (from Nigeria, [5] Senegal, [7] Ghana, [8] Cameroon, [6] and Zimbabwe, [9] ) had been reported in the literature.

The clinical features of XP have been reviewed in the literature. [4] XP patients develop skin sensitivity to sunlight in early years (as early as 6 months) of childhood with actinic keratosis, xerosis, poikiloderma, ocular abnormalities, neurodegeneration, and malignant neoplasms of the skin in sun-exposed areas, particularly in the head and neck region. The most common neoplasms are SCC, BCC, and they occur at a mean age of 8 years. [18] Overall survival of patients with XP by the third decade of life was reported to be 80%. However, prognosis in Africans is poorer as no African XP patient has been reported to survive up to two decades. [9]

The role of UV-damage as a contributing factor in the development of SCC from the anterior tongue, cannot be overlooked. Unlike other regions of the upper aerodigestive tract, the anterior portion of the tongue has limited exposure to sunlight. Indeed, the anterior tongue is a well-recognized site of origin of malignancy for patients with XP-associated SCCs. [4],[9] Thus, the occurrence of SCC of the tongue in the patient presented in this report supports the findings of higher incidence of tongue SCC among African XP patients than in other populations. [9]

The diagnosis of XP can be established with studies that include cellular hypersensitivity to UV radiation and chromosomal breakage studies, complementation studies, and gene sequencing to identify the specific gene complementation group. Prenatal diagnosis is possible by amniocentesis or chorionic villi sampling. Unfortunately, all these investigations are not available in our center and were, therefore, not carried out on this patient. Clinical presentation and dermatologist's impression provided the clue to the diagnosis. Prenatal diagnosis would have prevented the death of his four siblings, were it available. [19]

Effective sun protection, for example, use of face caps, hats, and sunscreen creams, minimizing UV exposure and early recognition of skin cancers and genetic counseling play important roles in the management of XP. [20] Oral 13-cis-retinoic acid has been shown to reduce the incidence of new cancers in these patients. [21] Nonavailability of this medication in our environment and the poor socioeconomic background of this patient precludes its use in this patient. Surgical excision is the most common modality used for the treatment of XP-related neoplasms. However, lesions at some sites may not be amenable to adequate surgical intervention. In addition, significant esthetic deformities may result from multiple excisions. The patient reported presented with many of the features of XP and management was tailored toward improving his quality of life and preventing life-threatening complications, especially tumor bleeding. The parents of this patient did not seek medical advice for the other three siblings leading to the high mortality, and even this patient was brought late to hospital in spite of his early presentation at the age of 3 years. This reflects the poor socioeconomic background of the parents with little or no resources to seek medical advice in the hospital, despite their extreme sensitivity to UV light, the patients with XP can be treated with standard doses of radiation for the treatment of neoplasms even though reports of the use of radiotherapy as a treatment modality for neoplasms in patients with XP in sub-Saharan Africa are rare. Nevertheless, Schaffer and Orlow [12] described two patients treated with radiotherapy for SCC of skin associated with XP. After follow-up periods of 2-7 years, respectively, both the patients developed fewer skin cancers on the treated side of the face. In addition, they did not manifest any acute or chronic complications. The schedule for radiotherapy may be individualized based on the clinical presentation and the number, type, size, and the site of the lesion. [10],[11],[12],[13] These have been effectively employed in this patient with very good clinical response with no new malignant tumor on treated sites, even though he was followed up for only 12 months, with an overall improvement in his quality of life.

Though XP is rarely reported in our environment, few cases may still be available. The lack of reported cases may be due to inadequate laboratory facilities. Clinical suspicion of this entity will lead to an early diagnosis, the treatment of complications, and to provide genetic counseling for the families. Our experience reported here, as well as a review of the literature, suggests that radiation therapy is an effective therapeutic modality for the treatment of neoplasms in patients with XP. In view of short survival of these patients, long-term clinical outcome and late effects of radiation therapy remain to be elucidated.

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.

Financial Support and Sponsorship


Conflicts of Interest

There are no conflicts of interest.

  References Top

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Ahmed H, Hassan RY, Pindiga UH. Xeroderma pigmentosum in three consecutive siblings of a Nigerian family: Observations on oculocutaneous manifestations in black African children. Br J Ophthalmol 2001;85:110-1.  Back to cited text no. 5
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Schaffer JV, Orlow SJ. Radiation therapy for high-risk squamous cell carcinomas in patients with xeroderma pigmentosum: Report of two cases and review of the literature. Dermatology 2011;223:97-103.  Back to cited text no. 12
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Nishigori C, Moriwaki S, Takebe H, Tanaka T, Imamura S. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 1994;130:191-7.  Back to cited text no. 15
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