The xeroderma pigmentosum variant in a Greek patient

A 12-year-old girl from Kastoria, Greece, was referred to the University Ho spital Xeroderma Pigmentosum Clinic (UHXPC, University Hospital, Newark, NJ ) in March 1999, after previously being followed in Greece and France. Unsc heduled DNA synthesis testing revealed normal unscheduled DNA synthesis and subsequent testing placed this patient in the XP-variant group. Complement ation studies were not performed. She had a history of multiple excisions, and biopsies in France, but no malignancies were discovered. The patient wa s a product of a normal full-term pregnancy, with no complications noted. T he patient's, pediatric records from Greece showed no abnormalities in grow th and development or mental function. Neurologic assessment was normal. At the time of presentation, the patient was, an excellent student in the fou rth grade of a Greek public grammar school. The patient had no further hist ory of previous hospitalizations or systemic diseases. Her family history w as positive for type II diabetes mellitus, hypertension, and coronary arter y 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 sur rounding Kastoria area, and there was no family history of consanguinity. Initial examination revealed diffuse macules on the face and forehead, gene ralized xerosis most pronounced in the nasolabial folds, prominent cheiliti s, a scar on the left eyelid from a previous excision, and an elevated, ery thematous 1 X 2 mm firm papule noted on the medial portion of the right low er eyelid (Fig. 1). Histologic assessment of this lesion revealed a basal c ell carcinoma, which was subsequently curetted. Examination of the oral cav ity showed no abnormalities. Ophthalmologic examination revealed lid freckl es and conjunctival congestion. Slit lamp examination was normal. The patient's arms were covered with diffuse macular mottling, consistent c linically with nevocellular nevi and lentigines (Fig. 2). A 3 X 2 mm darkly pigmented, asymmetric macule was noted on the dorsal base of the right thu mb. Histologic evaluation revealed a lentigo with focal cytologic atypia. The patient's anterior thorax, abdomen, and upper and lower back also revea led a similar pattern. of macular mottling, although less diffuse than on t he arms and legs (Fig. 3). A 4 X 3 mm slightly asymmetric, deeply pigmented macule on the right upper back and a 4 X 2 mm macule on: the upper chest w ere biopsied, revealing junctional nevocellular nevi with focal cytologic a typia. A biopsy of a 3 X 3 mm deeply pigmented macule on the right lower ba ck showed a lentigo, with atypical cells. Examination of the, legs revealed a similar pattern of macular mottling to that seen on the arms and chest. Of concern was an 8 X 5 mm irregularly pig mented, asymmetric lesion on the right posterior thigh and a 3 X 2 mm asymm etric 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 atypi cal melanocytic hyperplasia (melanoma in situ). The right posterior thigh l esion 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 documentatio n and monitoring of suspicious lesions. The patient and her parents were in structed on the need for strict avoidance of UV photoexposure. Sunscreens, UV-absorbing sunglasses, sun-blocking headwear, and protective clothing wer e to be used when photoexposure was unavoidable. Eucerin facial moisturizin g 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 c hild for the development of suspicious lesions. The patient was added to th e Xeroderma Pigmentosum Registry, and will be followed up on a long-term ba sis in our clinic. Over almost 2 years of follow-up, multiple excisions of newly arising, susp icious lesions have been performed as necessary on each visit. Histologic e xamination was significant for numerous intraepidermal, atypical, melanocyt ic hyperplasias (melanoma in situ), a number of dysplastic nevi, and two ba sal cell carcinomas (upper lip, right lumbar area). Re-excision of the mela noma 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, zin c and vitamin E tablets are taken daily. We have also recommended the use o f 5-fluorouracil 1% cream (Fluoroplex) nightly for 6 weeks applied to the n ose and nasolabial folds. The patient has also been followed up by a child psychiatrist in Greece on a regular basis.