Two children with xeroderma pigmentosum developing ... - Springer Link

Pediatr Surg Int (1998) 13: 299±300

Ó Springer-Verlag 1998

CASE REPORT

H. Masinjila á E. ArnbjoÈrnsson

Two children with xeroderma pigmentosum developing two different types of malignancies simultaneously

Accepted: 16 December 1996

Abstract Patients with xeroderma pigmentosum (XP) are highly sensitive to ultraviolet radiation and prone to develop multiple skin malignancies. We report two children under 6 years of age with XP who each developed two histologically di€erent types of malignancies simultaneously. We conclude that it is of importance to be aware of the possibility of multiple malignancies of di€erent types, even in young children. Key words Xeroderma pigmentosum á children á malignant melanoma á squamous cell carcinoma á squamous basal (mixed) carcinoma

Introduction Xeroderma pigmentosum (XP) is a rare autosomal recessive condition in which there is a defective DNA repair mechanism [2, 5]. Characteristic of this disease is a pigmentary anomaly leading to extreme dermal sensitivity to sunlight and photophobia. Ultraviolet radiation produces damage to the DNA, which provides an opportunity for mutant

H. Masinjila Box 98 Wete Hospital, Pemba, Zanzibar, Tanzania E. ArnbjoÈrnsson (&) Department of Paediatric Surgery, University Hospital, S-221 85 Lund, Sweden

malignant growth. Multiple skin cancers appear in the exposed areas [1, 4±7]. We are not aware of any reports on di€erent types of cancers simultaneously developing in children younger than 6 years of age. We report two patients, dark-skinned natives of Zanzibar, with XP and photophobia who each developed two histologically di€erent tumors simultaneously.

Case 1 A boy was admitted for the ®rst time at the age of 1 year with a tumor on his head that had been growing for 2 months. It was excised and the histologic examination showed a benign lesion, an embryonal lipoblastoma. Nine months later he returned with tumors on his head, face, and tongue (Fig. 1). Surgical removal was done, and histology showed two di€erent types of malignancies: a squamous cell carcinoma on the right temporal area and a squamousbasal (mixed) carcinoma on the right nostril. There was no lymph node enlargement. The boy had an older sister who had died of skin tumors of the head.

Case 2 A 5-year-10-month-old girl was admitted with tumors on the forehead, right suborbital area, upper and lower lips, and tongue that had developed over the 6 months prior to admission. The tumor on the forehead was removed as it was large and ulcerating. No histologic examination was performed. Two months later the tumors on the upper and lower lips, tongue, and right suborbital area had grown larger (Fig. 2). These were excised and sent for histologic examination.

The tumors from the lips and tongue were diagnosed as non-melanotic-type malignant melanoma, a highly anaplastic tumor. The tumor from the suborbital area was a welldi€erentiated, in®ltrating squamous cell carcinoma. There was no lymph node enlargement. She had no family history of skin malignancies. The fate of both patients is unknown due to their socio-economic situation.

Discussion An awareness of the possibility of multiple and di€erent types of malignancies is of importance when patients with XP and skin tumors are encountered. Multiplicity increases with age [1], and the development of di€erent types of tumors has been reported only in adults [2, 7] as far as we are aware. However, as our cases demonstrate, multiplicity and the simultaneous development of histologically di€erent types of tumors can also occur in children younger than 6 years of age. Early detection of these malignancies is necessary because they are fast-growing, metastasize, and lead to death [5]: most patients with XP do not live beyond the 3rd decade [3] because of tumor development. Surgical excision of the tumors and grafting of skin from non-light-exposed areas are the ®rst lines of treatment [4]. Chemo- and radiotherapy have been tried [3], however, no e€ective treatment has been found. Due to a lack of facilities, surgical excision was the only treatment for our two patients.

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sary to be aware of the possibility of histologically di€erent types of malignancies developing in sun-exposed areas on these patients.

References

Fig. 1 Patient 1 with xeroderma pigmentosum, photophobia, and two histologically di€erent types of tumors on head and face Fig. 2 Six-year-old girl with xeroderma pigmentosum, photophobia, and two histologically di€erent types of malignancies on face and tongue

Children with XP should be protected from sun exposure. Genetic counselling of a€ected families is of importance. Amniocentesis for prenatal diagnosis of XP and interruption of the pregnancy may be

discussed. In one of the cases reported, an older sister had died from skin tumors of the head. In conclusion, XP is a serious disease in which patients develop fatal skin malignancies. It is neces-

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