Xeroderma Pigmentosum Associated with Squamous and Basal Cell Carcinoma in Pakistan: A Case Series

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive condition characterized by an extreme sensitivity to UV rays from sunlight. It presents clinically with progressive pigmentary abnormalities and an increased incidence of skin and mucous membrane cancers at sun-exposed sites. Parental consanguinity is a significant risk factor. Previously, cases of XP have been reported from various regions of Pakistan including Larkana, Sibbi, Karachi, Lahore, and District Dir in 1993, 2009, and 2010. Genetic studies have been conducted on seven consanguineous families with XP belonging to the Khosa tribe of Baloch ethnicity. In May 2018, XP was reported in four siblings in a family from a small village in Sindh Province, Pakistan. Current surveillance has been carried out in the tribal village of Lundi Khosa, District Kachhi at Baluchistan, Pakistan. The disease has been endemic in the tribe since 1986, although it was brought under control in the last few years. This case report describes five patients (aged 3–12 years) with XP who have developed nonmelanoma skin malignancies.

Oral mucosa involvement in pediatric patients with xeroderma pigmentosum: a comprehensive review

“…The recurrence rate of oral SCC has been reported as 32.7%, 13 while this rate ranges from 3 to 8% in cutaneous SCC, depending on the type of treatment 14 . Premalignant lesions, such as actinic cheilitis and actinic keratosis, usually seen in adults, are known to occur in individuals with high levels of sun exposure, or UV sensitivity such as in XP 15–18 . However, the frequency of such lesions in XP patients is not well‐established.…”

“…Specifically, one limbal SCC and one pigmented mass in limbus, 29,47 two melanomas on medial canthus 21 and conjunctiva, 22 and multiple SCCs on the conjunctiva 17,42,46,76 have been reported in pediatric XP patients. The majority of XP patients with oral mucosal lesions included in this review (110/130, 84.6%) also exhibited ocular findings, such as keratitis, blindness, and symblepharon 17–19,21–24,29–31,40,41,43,45–48,67 . It is worth noting that our literature review focused exclusively on oral mucosal findings in pediatric patients and did not include a specific search for other mucosal areas, such as the genital mucosa or ocular areas.…”

“…or UV sensitivity such as in XP. [15][16][17][18] However, the frequency of such lesions in XP patients is not well-established. Nevertheless, actinic cheilitis may be observed clinically in XP patients and is presumed to be a precursor to SCC of the lower lip.…”

Xeroderma pigmentosum: an updated review

“…12,44,45 Patients with XP develop numerous precancerous actinic keratoses early in life. 46,47 Affected patients are at risk for skin and mucous membrane cancers in sun-exposed areas. 47,48 The most prevalent skin cancers are squamous cell carcinoma followed by basal cell carcinoma and malignant melanoma.…”

“…46,47 Affected patients are at risk for skin and mucous membrane cancers in sun-exposed areas. 47,48 The most prevalent skin cancers are squamous cell carcinoma followed by basal cell carcinoma and malignant melanoma. [49][50][51][52][53] Patients with XP have a 10,000-fold and 2000-fold increased risk over their lives of developing non-melanoma skin cancers (notably squamous cell carcinoma and basal cell carcinoma) and malignant melanoma, respectively.…”