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PubMedDate not supplied

Xeroderma pigmentosum.

Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. Xeroderma pigmentosum is based on a genetic defect in the DNA repair system. This disease manifests in early childhood. Patients with xeroderma pigmentosum have a marked sensitivity to sunlight and develop serious sunburns with onset of poikilodermia in the light-exposed skin. Squamous cell carcinomas, basal cell carcinomas and malignant melanomas already appear in childhood. The majority of patients die before reaching adulthood because of metastases. Genetically, xeroderma pigmentosum is divided into 7 complementation groups (XP-A to XP-G) and the xeroderma pigmentosum variants (XP-V). Diagnostically, assignment to the specific complementation group is made according to the fusioning of xeroderma pigmentosum fibroblasts. Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne Syndrome and trichothiodystrophy. Currently, there are reports of successful application of a topical DNA Repair Enzyme. This is a recombinant liposomal encapsulated T4 endonuclease V, which repairs UV-induced cyclobutan-pyrimidine dimers. In future, causal therapy could be based on gene therapy. The introduction of an intact repair gene which specifically codes the repair protein, could open new possibilities in the treatment of xeroderma pigmentosum.

Animals↗
PubMed1992

Chemoprevention of skin cancer in xeroderma pigmentosum.

Xeroderma pigmentosum is a rare recessive disease with sun sensitivity, increased freckling and defective DNA repair. Xeroderma pigmentosum patients have more than a 1000-fold increased risk of developing skin cancer including basal cell carcinoma, squamous cell carcinoma and melanoma. We studied chemoprevention of new skin cancers with oral retinoids in xeroderma pigmentosum patients who had multiple skin cancers. Xeroderma pigmentosum patients were cleared of all pre-existing tumors surgically and then treated with high dose (2 mg/kg/day) oral isotretinoin (13-cis retinoic acid, Accutane) for two years and then for one year off treatment. Patients were examined at regular intervals for new tumor formation and for side effects. Five xeroderma pigmentosum patients had a total of 121 basal or squamous cell carcinomas in 2 years before treatment and only 25 tumors during 2 years of treatment. The tumor frequency increased 8.5-fold after the drug was discontinued (New Engl J Med 318: 1633-1637, 1988). Toxicity (cutaneous, triglyceride, liver-function or skeletal abnormalities) prompted subsequent use of a low dose protocol. Patients were treated initially with 0.5 mg/kg/day oral isotretinoin and the dose was increased sequentially to 1.0 or 1.5 mg/kg/day. We found that toxicity was less with the lower doses. The lowest effective, least toxic dose varied among the xeroderma pigmentosum patients.

Administration, Oral↗
PubMed1986

Neurological manifestations in xeroderma pigmentosum.

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.

Adolescent↗
PubMed1994

[Multiple melanoma in xeroderma pigmentosum].

Xeroderma pigmentosum comprises a heterogeneous group of autosomal recessive hereditary diseases, which are characterized by a number of clinical characteristics and an abnormal DNA repair mechanism. Patients affected show a high frequency of mucocutaneous malignant tumors, especially squamous cell carcinomas and basal cell carcinomas. We report on a 65-year-old patient who successively developed a total of 15 malignant melanomas, 1 squamous cell carcinoma and 1 lymph node metastasis of a malignant melanoma. The clinical diagnosis of xeroderma pigmentosum was confirmed by the complementation analysis, which defined our patient as xeroderma pigmentosum of the complementation group D.

Aged↗
PubMed2000

[Neurological manifestations of xeroderma pigmentosum].

Xeroderma pigmentosum is a genodermatosis with neurological manifestations in approximately 18p. 100 of cases. Polymorphous and variably associated signs are observed, progressing with the clinical course. The etiology of the neurological breach remains unknown. We report two siblings who had xeroderma pigmentosum with intellectual deficiency, a pyramidal, cerebellar and cordonal syndrome, ophthalmoplegia, and axonal peripheral neuropathy. We discuss the epidemiological, clinical and electrophysiological aspects of the neurological breach in xeroderma pigmentosum.

Adult↗
PubMed1992

Premalignant melanosis of the conjunctiva and the cornea in xeroderma pigmentosum.

Xeroderma pigmentosum is a rare autosomal recessive dermatosis. The neoplastic changes in sunlight-exposed areas of the skin and eyes may be related to the impaired replication of ultraviolet radiation-damaged DNA. A 38-year-old Greek woman is reported with a mild form of xeroderma pigmentosum and primary acquired melanosis with atypia of her right limbal conjunctiva and cornea. The development of this precursor of conjunctival malignant melanoma in a xeroderma pigmentosum patient may support the putative role of sunlight exposure in malignant transformation of conjunctival melanocytes.

Adult↗
PubMed1989

Malignant melanoma of the iris in xeroderma pigmentosum.

Xeroderma pigmentosum is an autosomal recessive, precancerous dermatosis caused by defective repair of ultraviolet-damaged DNA. Characterized clinically by progressive cutaneous pigmentary alterations and tumorigenesis, it serves as a model for ultraviolet carcinogenesis. We describe the clinical and histopathologic findings in a 31-year-old woman with xeroderma pigmentosum and a massive iris melanoma of the left eye. Histologic examination following enucleation revealed diffuse iris replacement by spindle and epithelioid cells with extension into the trabecular meshwork. Evidence of direct extraocular extension was absent, and a metastatic evaluation showed no abnormalities. To our knowledge, this is the first reported case of xeroderma pigmentosum complicated by melanoma of the iris. It provides further evidence suggesting a role for sunlight exposure in the pathogenesis of uveal melanoma.

Adult↗
PubMed1989

EEG and CT abnormalities in xeroderma pigmentosum.

Xeroderma pigmentosum associated with neurological abnormalities is a less familiar neurocutaneous disorder. In this report, 35 patients with group A xeroderma pigmentosum were assessed for neurological complications. Of these, 17 showed microcephaly and 24 mental retardation. Of 25 patients over 7 years of age, 22 had sensorineural deafness and 12 showed spinocerebellar signs such as nystagmus, dysarthria, tremor and ataxia, while none below 7 years of age had such neurological complications. Thirty-five EEG studies were performed on 29 patients, and 15 showed intermittent spindles of grouped theta waves with abnormal slow background activity and a poorly developed alpha rhythm, suggesting immature brain development or a regression from normal brain function in many areas including the diencephalon. Twenty-six patients were examined by cranial CT scan, of whom 20 showed abnormal CT findings such as ventricular dilatation, diffuse cortical atrophy, and marked thickening of the calvarial bones. The incidence of abnormal EEG and CT findings increased with advancing age in accordance with the development of neurological complications in the CNS, thus suggesting a chronic progressive degenerative disease.

Adolescent↗
PubMed2005

Rickets in xeroderma pigmentosum.

Xeroderma pigmentosum patients are advised to strictly avoid sun exposure to prevent ultraviolet-induced DNA damage. We describe a 2 1/2 years old boy having xeroderma pigmentosum, who also developed rickets. He was given one injection of vitamin D along with dietary vitamin D supplements to which he responded. He is being followed- up regularly in outdoor clinic with the advice to the parents to continue dietary vitamin D supplements and to avoid sun exposure.

Child, Preschool↗
PubMed1994

Management of a young patient with xeroderma pigmentosum.

Xeroderma pigmentosum is a group of rare autosomal recessive disorders with defective DNA repair that provide insight into the basic mechanism of carcinogenesis. It is the best human model linking clinical abnormalities and neoplasia to carcinogen exposure. We describe a patient with xeroderma pigmentosum and numerous basal cell carcinomas, squamous cell carcinomas, and melanomas treated with radiation therapy, Mohs micrographic surgery, dermabrasion, and isotretinoin prophylaxis.

Adolescent↗
PubMed1992

Management of corneal complications in xeroderma pigmentosum.

Xeroderma pigmentosum is an uncommon, recessively inherited disorder characterized by hypersensitivity to ultraviolet (UV) radiation, with defective repair of DNA damage caused by short-wavelength radiation. Patients with this disease experience progressive and precancerous changes in sun-exposed areas of the skin and mucous membranes. Some patients develop progressive neurologic degeneration. Eye involvement includes lid, conjunctiva, and corneal disorders. We report clinical, histopathologic findings, and complex management strategies used for a 33-year-old woman with xeroderma pigmentosum and recurrent corneal ulcerations that required corneal transplantation, topical cyclosporin, perilimbic conjunctival resection followed by topical mitomycin C, and corneal dye-laser photocoagulation of neovascularization in the left eye.

Adult↗
PubMed1999

[Auditory brainstem responses in group A xeroderma pigmentosum].

Xeroderma pigmentosum has been known to result from disturbance in the repair of injured DNA caused by the ultra violet light. According to cell fusion studies, this disease is classified into 8 groups. Among these groups, group A (A-XP) shows the most severe type of neurological disturbance. Slowly progressive diffuse impairment both in the central and the peripheral nervous systems has been reported. Although hearing loss occurs in all the patients, few papers have described the chronological changes of this disability. This study aimed to clarify the development of audiological abnormalities in A-XP patients. We recorded auditory brainstem evoked responses (ABRs) in 20 Japanese children with A-XP. All patients had homozygous intron 3 splicing mutations of xeroderma pigmentosum group A complementing gene, the most common type mutations in Japan. ABR threshold, peak latency of 5th wave and the peak interval latency between the 1st and 5th waves (I-V interpeak latency) were measured, and were compared with those obtained from age-matched controls. ABRs were well detected in all patients examined under 4 years old. The I-V interpeak latencies became shorter with age as in the controls. In 3 ears, the 5th wave was recorded without 1st wave. In 4 ears which no ABRs were detected with 90 dBHL stimulation, the only 5th wave was detected. No waves were obtained from the patients aged over 10 years. The current study revealed that ABR disturbance in A-XP patients became obvious after 4 years of age. In addition, no ABR was found to be identified after 10 years of age. During 4 to 10 years of age, some patients showed the elevation of the threshold of the 5th wave. In A-XP patients, the peripheral nerve was hypothesized to be affected earlier than the central pathway involved in ABR.

Adolescent↗
PubMed1989

Xeroderma pigmentosum.

Xeroderma pigmentosum is a rare, recessively inherited, sun-sensitive disorder with a defective DNA repair mechanism that is the best model currently available linking human cancer to exposure to a specific carcinogen. Laboratory and epidemiological studies of this disease are providing extensive insight into the etiology of cancer in the general population.

DNA Repair↗
PubMed1984

Multiple melanomas occurring in a patient with xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is associated with an increased frequency of cutaneous malignancies including malignant melanoma. We report a patient who developed eleven primary melanomas and numerous highly atypical nevi in addition to the basal cell carcinomas and squamous cell carcinomas more commonly seen in patients with XP.

Adult↗
PubMed1997

Oculocutaneous malignancies in xeroderma pigmentosum.

Xeroderma pigmentosum is a rare autosomal recessive genodermatosis characterized by markedly increased sensitivity to sunlight, and the early development of skin tumours. Four cases of XP with malignancy have been described with a brief review of the literature. The cases have been documented with a view to study the evolution of the disease process and the development of malignancy during the follow up period.

Adolescent↗
PubMedDate not supplied

Cutaneous angiosarcoma in a patient with xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a DNA repair defect syndrome associated with an increased risk to developing skin neoplasms on sun-exposed cutaneous surfaces. This report describes the case of a 15-year-old boy with XP who developed cutaneous angiosarcoma. The patient was cured with surgery alone, despite incomplete resection, and he is alive without evidence of disease 40 months after diagnosis. It is the fourth reported case--and the third in pediatric age--of the association of XP with this soft part sarcoma.

Adolescent↗
PubMed1999

New tumor formation on split-thickness skin grafted areas in xeroderma pigmentosum.

Xeroderma pigmentosum is a relatively rare systemic disease transmitted through an incomplete sex-linked recessive gene. It is characterized by malignant skin degeneration. One of the most effective treatment choices for the malignant changes is full-face resurfacing with skin grafts. Grafts harvested from areas that have some freckles may show malignant degeneration by ultraviolet exposure. The authors present a patient whose face was resurfaced with a split-thickness skin graft and was admitted due to new tumor formation on her resurfaced face.

Adolescent↗