The xeroderma pigmentosum variant in a Greek patient
Authors: Papadopoulos Anthony J. , Schwartz Robert A. , Sarasin Alain , Lambert W. Clark 
Published: March 2003

A 12‐year‐old girl from Kastoria, Greece, was referred to the University Hospital Xeroderma Pigmentosum Clinic (UHXPC, University Hospital, Newark, NJ) in March 1999, after previously being followed in Greece and France. Unscheduled DNA synthesis testing revealed normal unscheduled DNA synthesis and subsequent testing placed this patient in the XP‐variant group. Complementation studies were not performed. She had a history of multiple excisions and biopsies in France, but no malignancies were discovered. The patient was a product of a normal full‐term pregnancy, with no complications noted. The patient's pediatric records from Greece showed no abnormalities in growth and development or mental function. Neurologic assessment was normal. At the time of presentation, the patient was an excellent student in the fourth grade of a Greek public grammar school. The patient had no further history of previous hospitalizations or systemic diseases. Her family history was positive for type II diabetes mellitus, hypertension, and coronary artery disease. The patient had a 16‐year‐old brother who was otherwise healthy; she was the only XP patient in her family. Both parents were from the surrounding Kastoria area, and there was no family history of consanguinity.

Initial examination revealed diffuse macules on the face and forehead, generalized xerosis most pronounced in the nasolabial folds, prominent cheilitis, a scar on the left eyelid from a previous excision, and an elevated, erythematous 1 × 2 mm firm papule noted on the medial portion of the right lower eyelid (Fig. 1). Histologic assessment of this lesion revealed a basal cell carcinoma, which was subsequently curetted. Examination of the oral cavity showed no abnormalities. Ophthalmologic examination revealed lid freckles and conjunctival congestion. Slit lamp examination was normal.

Close‐up view of the face of a 13‐year‐old XP‐variant from Greece. Left profile view demonstrating diffuse macular mottling on the face and nose; generalized xerosis and prominent cheilitis are also seen

image

The patient's arms were covered with diffuse macular mottling, consistent clinically with nevocellular nevi and lentigines (Fig. 2). A 3 × 2 mm darkly pigmented, asymmetric macule was noted on the dorsal base of the right thumb. Histologic evaluation revealed a lentigo with focal cytologic atypia.

Close‐up view of the left shoulder. Diffuse macular freckling and xerosis are seen

image

The patient's anterior thorax, abdomen, and upper and lower back also revealed a similar pattern of macular mottling, although less diffuse than on the arms and legs (Fig. 3). A 4 × 3 mm slightly asymmetric, deeply pigmented macule on the right upper back and a 4 × 2 mm macule on the upper chest were biopsied, revealing junctional nevocellular nevi with focal cytologic atypia. A biopsy of a 3 × 3 mm deeply pigmented macule on the right lower back showed a lentigo with atypical cells.

Frontal view of neck, shoulders, and chest. Diffuse macular mottling is seen; numerous suspicious hyperpigmented macules, with irregular borders, are also evident

image

Examination of the legs revealed a similar pattern of macular mottling to that seen on the arms and chest. Of concern was an 8 × 5 mm irregularly pigmented, asymmetric lesion on the right posterior thigh and a 3 × 2 mm asymmetric macule on the left upper thigh. A 4‐mm punch biopsy was taken of the macule on the left upper thigh, revealing a nevocellular nevus with atypical melanocytic hyperplasia (melanoma in situ). The right posterior thigh lesion was a malignant melanoma, Clark–Mihm level III, Breslow depth 0.60 mm.

At this time, the patient was instructed to return to the UHXPC in 3 months for follow‐up, skin examination, and clinical photographs for documentation and monitoring of suspicious lesions. The patient and her parents were instructed on the need for strict avoidance of UV photoexposure. Sunscreens, UV‐absorbing sunglasses, sun‐blocking headwear, and protective clothing were to be used when photoexposure was unavoidable. Eucerin facial moisturizing lotion [sun protection factor (SPF) 25] (lactic acid emollient) was to be used twice daily for the patient's facial xerosis; areas of xerosis on the trunk or extremities could be treated, as needed, with Eucerin Plus creme (2.5% lactic acid/10% urea). A multivitamin, zinc and vitamin E were to be taken daily. The parents were also instructed to periodically examine the child for the development of suspicious lesions. The patient was added to the Xeroderma Pigmentosum Registry, and will be followed up on a long‐term basis in our clinic.

Over almost 2 years of follow‐up, multiple excisions of newly arising, suspicious lesions have been performed as necessary on each visit. Histologic examination was significant for numerous intraepidermal, atypical, melanocytic hyperplasias (melanoma in situ), a number of dysplastic nevi, and two basal cell carcinomas (upper lip, right lumbar area). Re‐excision of the melanoma site on the right posterior thigh revealed no evidence of recurrence. The patient's most recent visit was in July, 2001.

The patient continues to use photoprotective precautions. Multivitamin, zinc and vitamin E tablets are taken daily. We have also recommended the use of 5‐fluorouracil 1% cream (Fluoroplex) nightly for 6 weeks applied to the nose and nasolabial folds. The patient has also been followed up by a child psychiatrist in Greece on a regular basis.