The Myriad Presentations of Xeroderma Pigmentosum: Report of 2 cases with features

ranging from Benign hyperpigmented lesions to Life Threatening cutaneous cancers

Abhinav Chawla

Department of Dermatology, GMC Jammu

INTRODUCTION:
Xeroderma Pigmentosum was first described in medical literature by Hebra and Kaposi. It is
characterized by development of marked photosensitivity, ocular and neurological
abnormalities (in up to 40% patients) and an increased risk of cutaneous malignancies.

CASE REPORT:
A 14-year-old male child was brought to outpatient department with complaints of an ulcer
over the tip of nose that started 3 months ago as a small papule that evolved in size and
morphology over the disease duration to involve the adjacent skin. On examination, there was
presence of a single, well defined, oval, non-tender ulcer measuring about 4×5 cm over the
nose with everted edges, covered by yellowish black crust that on removal showed an
erythematous base. Additionally, there was presence of multiple, hyperpigmented macules (1-
5 mm) over the exposed body parts that were present since childhood (suggestive of Solar
lentigines and Ephelids). There was history of consanguineous marriage in family and history
of similar lesions in family member (Paternal Cousin) was present. Biopsy reports were
consistent with moderately differentiated Squamous cell carcinoma. The patient was then
counselled about his condition, advised photoprotection and then referred to Plastic Surgery
for further management.
The second case described here was of a 30-year-old male who presented to us with
development of multiple hyperpigmented macules and plaques over the face and the dorsum
of both hands extending to involve both forearms in the past 2 years. History of
photosensitivity and photophobia was present. Episodes of remissions and exacerbations
were reported by this patient. There was no history of any consanguineous marriage or
similar lesions in family members. He was managed with topical sunscreen and retinoids.

DISCUSSION:
Xeroderma Pigmentosum has 8 subtypes (XP- A, B, C, D, E, F, G and V) and has an
autosomal recessive inheritance. While the first seven subtypes (XP-A, B, C, D, E, F and G)
are associated with defects in Nucleotide Excision Repair (NER), the last type (XP-V) has
defect in DNA Polymerase. Cutaneous manifestations include varying degrees of
photosensitivity, solar lentigines, and increased risk of development of non-melanoma skin
cancers (by 10,000-fold) & melanoma (by 2,000-fold). Ocular features include premature
development of pterygium, keratitis, corneal opacities and corneal neovascularization.

Pigmented Xerodermoid is a rare variant of Xeroderma pigmentosum with only a few case
reports in medical literature; and was first reported in the seventies as “Xeroderma
Pigmentosum of late onset”. Recently, it has been considered to be same as XP-V; which has
mutations in DNA polymerase enzyme. It is characterized by almost total depression of DNA
synthesis upon UV exposure, though repair replication is usually normal. The cutaneous and
ocular features are similar to XP-C and neurological features are rarely seen. Patients should
be counselled regarding stringent photoprotection and periodic surveillance be done to rule
out development of premalignant or malignant changes.