Malignant Transformation and Management of Cutaneous Squamous Cell Carcinoma in a 7-Year-Old Child with Xeroderma Pigmentosum: A Case Report from Somaliland

Introduction

Xeroderma pigmentosum (XP) is a rare, autosomal recessive genodermatosis resulting from mutations in genes critical for the nucleotide excision repair (NER) pathway, which is essential for correcting ultraviolet (UV) radiation-induced DNA damage.¹ This molecular defect confers an extreme, lifelong photosensitivity and a profoundly elevated risk—estimated to be more than 10,000-fold greater than the general population—of developing cutaneous malignancies at a remarkably young age and while rare globally (1:1,000,000 in the US), the prevalence is significantly higher in North Africa and the Middle East (approximately 1:10,000 to 1:30,000) due to higher rates of consanguinity.^2,3 The clinical spectrum is dominated by the early onset of sunburn reactions, progressive poikiloderma, and the development of actinic keratoses, basal cell carcinomas, melanomas, and notably, aggressive squamous cell carcinomas (SCCs).⁴ Ocular (eg., photophobia, keratitis, neoplasms) and neurological manifestations further define complex phenotypic subtypes.⁵

In high-resource settings, management of XP is a multidisciplinary, lifelong endeavor predicated on rigorous and absolute photoprotection, regular surveillance with prompt excision of neoplasms, and supportive neurological and ophthalmological care.⁶ The prognosis has improved significantly with these interventions, though it remains guarded and is heavily dependent on the severity of neurological involvement and the prevention of metastatic cancer.⁷

Conversely, in regions characterized by intense ambient UV radiation, subsistence economies, and constrained healthcare infrastructure—such as the Horn of Africa—the management of XP presents a formidable, often tragic, set of challenges.⁸ Patients frequently present late, with advanced, disfiguring, or metastatic malignancies.⁹ Diagnostic capabilities for both the underlying genodermatosis and its malignant sequelae are limited, while access to specialized surgeons, oncologists, and the fundamental tools of photoprotection (eg., broad-spectrum sunscreens, protective clothing) is severely restricted.¹⁰ These systemic deficiencies intersect with socioeconomic vulnerabilities, including poverty and health illiteracy, creating a context where a preventable, DNA-repair disorder translates into a near-certainty of early morbidity and mortality.¹¹

This case report details the presentation, complex surgical management, and complications of a cutaneous SCC in a young child with XP in Hargeisa, Somaliland. It serves to illustrate the accelerated natural history of this disease in a high-UV environment and to highlight the profound diagnostic, therapeutic, and ethical challenges encountered when managing a life-threatening genodermatosis in a resource-limited setting. The case underscores the urgent need for context-appropriate guidelines, international collaboration, and advocacy for basic preventive resources to alter the devastating trajectory of XP for patients in the world’s most vulnerable regions.

Case Presentation

A 7-year-old female from a rural nomadic community near Hargeisa, Somaliland, presented to the dermatology outpatient clinic at Hargeisa Group Hospital. She had a 6-month history of a slowly enlarging, non-healing, ulcerated lesion on her right temple, associated with bleeding and hemorrhagic crusting. For two years, she had exhibited pronounced photosensitivity, dry skin and eyes, and developed numerous freckle-like macules and rough plaques on her face and forearms. She also had a history of mild deafness and delayed speech. Due to extreme sun sensitivity and speech regression, she had withdrawn from school.

Past Medical, Family, and Social History

Her parents were first cousins (consanguineous). Of her five siblings, two others (aged 3 and 5 years) exhibited milder freckling and xerosis. While their symptoms were less severe at presentation, this likely reflects a shorter duration of cumulative UV exposure rather than variable expressivity, given the recessive nature of XP. The family’s previous nomadic lifestyle involved constant sun exposure. They lived in a modest home without electricity. Care was supported by extended family.

Physical Examination

The patient was alert but visibly photophobic. Dermatologic examination revealed a single, well-demarcated, indurated, ulcerated plaque (3.5 x 2 cm) with hemorrhagic crust and tenderness on the right temple (Figures 1 and 2). No regional lymphadenopathy was palpable. There was diffuse xerosis and poikiloderma with numerous hyper- and hypopigmented macules on the face and forearms. Ophthalmic examination showed bilateral conjunctival dryness and benign growths (pterygium-like) on the right eye.

Figure 1 There are multiple dyspigmentations with ulcer at right supraorbital area.

Figure 2 There is single 3.5x2cm well dermarcated ulcerated tender plaque with easy bleeding and crustation over left temple.

Management and Clinical Course: A clinical diagnosis of XP with probable cutaneous SCC was made. Initially, the lesion was excised with a 2mm clinical margin. This narrow margin was chosen due to the lesion’s proximity to the orbit and a desire to preserve tissue for a full-thickness skin graft (FTSG) (Figures 3 and 4). Histopathological analysis of the excised specimen confirmed a well-differentiated squamous cell carcinoma with clear peripheral margins with invasion into the reticular dermis.

Figure 3 There is excision of the ulcer with 2mm margin.

Figure 4 There is full thickness graft from right groin.

The postoperative course was complicated by graft infection and failure. Three months later, the SCC recurred at the same site as a red, ulcerated Plaque (Figure 5). This rapid recurrence confirms that the initial 2mm margin was oncologically inadequate.

Figure 5 There is ulcerated plaque with oozing and pus drainage with some crust.

This was managed with daily local wound care (chlorhexidine cleansing, topical antibiotic ointment, non-adherent dressings) until secondary intention healing was achieved. Three months later, the SCC recurred at the same site, presenting as a red, ulcerated plaque with tissue overgrowth (Figure 6).

Figure 6 There is red ulcer with tissue overgrowth over right supraorbital area.

A second, definitive procedure was performed: a wide local excision with a 4mm clinical margin. Given the prior graft failure, the defect was closed using a local rotational flap (Figure 7). This procedure healed primarily without complication The patient was referred to ophthalmology for ocular lubricants and UV-protective sunglasses. The family received counseling on sun avoidance, though access to high-SPF sunscreen remains a significant financial barrier.

Figure 7 There is flap performed at skin lesion site after wide local excision of 4mm margin.

Discussion

This case illustrates the accelerated natural history of XP in high-UV environments. The most critical clinical takeaway is the management of surgical margins in pediatric SCC. While 2mm margins are occasionally used in low-risk SCC, the aggressive nature of XP-associated tumors necessitates at least 4mm margins or Mohs micrographic surgery.⁶ The rapid recurrence in this patient after a 2mm excision underscores that even in cosmetically sensitive areas like the temple, oncologic safety must take precedence.

Conclusion

This report serves as a reminder of the health inequities faced by patients with rare genetic disorders in resource-poor regions. While the second surgical intervention with wider margins was successful, the long-term prognosis remains guarded due to the high likelihood of future primary tumors. There is an urgent need for global health initiatives to provide affordable photoprotective resources and training in aggressive surgical management for clinicians in the Horn of Africa.