Scalp squamous cell carcinoma in xeroderma pigmentosum.

CONTEXT: Xeroderma pigmentosum is a rare autosomal-recessive disorder that appears in early childhood. Squamous cell carcinoma is not uncommon in patients with xeroderma pigmentosum and mostly involving the face, head, neck, and scalp. However, squamous cell carcinoma of the scalp may exhibit an aggressive course. CASE REPORT: Here, we present a huge squamous cell carcinoma of the scalp in a three-years-old child with xeroderma pigmentosum. In addition, we illustrate the challenges of a child with xeroderma pigmentosum who grows up in a sunny environment where the possibility of early onset of squamous cell carcinoma is extremely high in any suspected skin lesion.
CONCLUSION: In xeroderma pigmentosum patients, squamous cell carcinoma of the scalp can present early and tends to be unusually aggressive. In sunny areas, proper education to the patient and their parents about ultra-violet light protection and early recognition of any suspicious lesion could be life-saving.

Introduction

It has been convinced that Xeroderma Pigmentosum (XP) is one of the major risk factors for squamous cell carcinoma (SCC).[1] These malignant tumors mostly involve the face, head, neck, and scalp. The later can present with an aggressive course.[2] SCC in the scalp is able to extend beyond what is clinically apparent. We present a huge SCC of the scalp in an XP child who has risen up in areas where sunny weather is predominant most of the seasons. This case show how aggressive is SCC of the scalp in a child with XP. Our case illustrates the importance of physician to educate the patient with XP and his family about strict avoidance of sunlight, especially in sunny areas and early presentation for any suspicious lesion in scalp.

Case Presentation

A three-year-old boy, known case of XP, presented to our clinic with an ulcerating mass in the scalp [Figure 1]. The ulcer was round in shape, measured about 10 × 15 cm, with punched out edges. There was no discharge or bleeding. At presentation, he was irritable and photophobic. There were diffuse hyperpigmented lesions over the face, trunk, and extensor surface of the upper extremities. The skin was unnaturally dry and rough all over the previously mentioned areas. Hyperpigmented hyperkeratotic changes were observed over some lesions. There was a congestion of conjunctivae of both eyes. Neurological examination was normal. He has a family history of thalassemia major in two siblings, but no similar case. There is a positive history of consanguinity. Biopsy showed moderately differentiated squamous cell carcinoma. The patient presented with a late diagnosis of SCC that has been progressing for 2 years. At age of three months, he started to develop rashes and hyperpigmentation (freckles) on the face and extremities. Previously, he sought medical advice that has poor diagnostic facilities near his town. Computerized Tomography (CT) scan of the brain demonstrates evidence of erosion of the outer and inner plate of scalp exposing the dura with no intracranial extension. Excision of the lesion with 1 cm safety margin circumferentially was done. Scalp reconstruction was performed using local flaps and skin graft. A written informed consent was obtained from the parents for publication of this case report and any supplementary image.

Figure 1

Craniocaudal view of huge squamous cell carcinoma ulcer on the scalp in a patient with Xeroderma Pigmentosum

Discussion

XP is a rare autosomal-recessive disorder that appears in early childhood.[3] It was first described by Hebra and Kaposi in 1874.[3] In the United States, the estimated prevalence of XP is at 1:1,000,000.[4] XP can be diagnosed when a child presents with multiple pigmented lesions, marked photosensitivity, and xerosis.[5] There is a 10, 000-fold increased risk of non-melanoma skin cancer under 20 years old.[6] Many risk factors are known to exacerbate the cutaneous features resulting in numerous pigmentation changes, various skin cancers, and early death.[1] These risks factors include sunny weathers, outdoors living, fair skin, smoking, poor availability of diagnostic facilities, delayed diagnosis, and poor protection from sunlight.[1]

In patients with XP, the mean age for skin cancer is 8 years compared to 60 years in the healthy individuals.[3] Actinic damage occurs between 1 and 2 years.[7] The most common types of cancer found in XP patients are basal cell carcinoma and SCC, mostly involving the face, head, and neck.[8] SCC in the scalp tends to have an aggressive course. Because of the anatomical structure and the vascularity of the scalp, SCC in this body part can extend beyond what is clinically apparent.[2] Cutaneous neoplasm in XP patients is difficult to be prevented. However, early protection from ultra-violet (UV) radiation may play a role in prevention of skin malignancy.[1] Individuals with XP should strictly avoid sun exposure; use appropriate clothing, sun blocking agents, and protective glasses. In addition, early diagnosis of any skin lesion is of utmost importance. Follow up on a regular basis is critical to detect and excise pre-cancerous lesions and malignant tumors at an early stage.[3] All families at risk should be offered genetic counseling. There are particular challenges when a child with XP grows up in sunny environment like Saudi Arabia as illustrated in this case. Excessive exposure to sunlight may accelerate the development of cutaneous neoplasms in XP patients. Moreover, the delay in taking biopsy at age of 1 year as results of neglect also contributed to the progression of the SCC.

In conclusion, clinicians should be aware of the possibility of early onset of SCC when patients with XP present with any skin lesion, especially at the scalp. SCC of the scalp can be unusually aggressive. Proper education to the parents about the importance of strict UV light protection, especially in sunny areas, is warranted. Early recognition of any suspicious lesion at the scalp may be life-saving.