Diagnosis Of Xeroderma Pigmentosum Research Articles

Management of progressive keratoconus in a patient with xeroderma pigmentosum after treatment of ocular surface tumors

We report a 16-year-old female patient with diagnosis of xeroderma pigmentosum (XP), previously treated for simultaneous conjunctival squamous cell carcinoma in the right eye (OD) and conjunctival melanoma in the left eye (OS), showing progressive keratoconus during follow-up. Considering the risk of cross-linking treatment due to UV exposure in XP patients, an intrastromal corneal ring segment was implanted in the right eye. The patient was fitted with mini-scleral lenses that would promote corneal lubrication and provide the patient with better visual acuity than glasses. The patient has been followed-up for 1 year with no tumor recurrence and good vision.

Xeroderma pigmentosum: when the sun burns the eyes

We report the case of a two-month-old male infant from a consanguine marriage. He had pigmented lesions on the skin of the eyelids, the face, and the neck, alternating with areas of depigmentation. An erosive appearance was found on the nose skin and lower labial mucosa. Ophthalmologically, the ocular tracking reflex was present, blepharitis was found with inflammatory palpebral swelling and bilateral ectropion; associated with conjunctival hyperemia, mucous secretions and severe dry eyes with corneal ulceration (exposure keratitis). The rest of the eye exam was normal. The prescribed treatment is based on sun protection, moistening, healing and antibiotic eye drops in both eyes, with close monitoring. Xeroderma pigmentosum (XP) is a rare genetic disease, with an autosomal recessive transmission, common in the Maghreb due to the high rate of consanguine marriage. The diagnosis of XP is clinical, defined by pigment abnormalities of skin exposed to the sun, skin neoplasia; XP is linked to a defect in the enzymes involved in repairing the oncogenic effects of ultraviolet exposure. Ocular neoplasia is most often located at the limb, cornea and conjunctiva. Prevention of tumors requires protection from sunlight. Surgical removal of tumors and self-healing of skin not exposed to the sun are the most important therapeutic measures. Treatment of complications (hyperemia, infections, and corneal opacification) is symptomatic, waiting for the arrival of the gene therapy.

Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis.

Emir S, Hacısalihoğlu Ş, Özyörük D, Kaçar D, Erdem A, Karakuş E. Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis. Turk J Pediatr 2017; 59: 711-714. Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder that results from genetic defects in DNA repair and manifests with a marked hypersensivity to ultraviolet rays. Children with X-P are at high risk of developing skin cancers. On the other hand, hypercalcemia-hyperleukocytosis is a rare paraneoplastic syndrome in children with cancer compared to adults. Here, we report a five-year-old female with X-P and squamous cell carcinoma (SCC). The patient presented with a necrotic, ulcerating huge mass sized 20x15x10 cm involving the right half of the face. She had a history of increased freckling over the face since the age of two years. Her other cutaneous findings are dryness of skin, photosensitivity, freckling and telengiectasis all over the body. A diagnosis of Xeroderma pigmentosum was made based on clinical features. She also had high fever, anemia, hyperleukocytosis, thrombocytosis and hypercalcemia. After pathological diagnosis of squamous cell carcinoma, she was treated with chemotherapy. All the symptoms and signs resolved dramatically with the initiation of chemotherapy. Our case is an example of early development of massive disfiguring SCC in children with undiagnosed and untreated X-P. Although we could not prove the paraneoplastic nature of hypercalcemia-hyperleukocytosis, dramatic response to the chemotherapy may be an evidence for paraneoplastic origin.

Xeroderma Pigmentosum: A Multidisciplinary Approach

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individuals are unable to repair ultraviolet radiation (UVR)-induced DNA damage, leading to a variety of clinical manifestations: a dramatic increase in mucocutaneous malignancies, increased lentigines, extreme photosensitivity (in approximately 50% of cases), and neurodegeneration (in approximately 30% of affected individuals). Incidence in Western Europe is recorded as 2.3 per million live births. There are eight different complementation groups, XP-A to XP-G, and XP-variant (XP-V) corresponding to the eight affected genes. Classically, XP patients were identified by clinicians for their tendency to develop severe and exaggerated sunburn on minimal sun exposure, however recently it has been shown that XP-C, XP-E and XP-V patients have normal sunburn reactions for skin type compared to the other groups, who suffer not only with severe, exaggerated sunburn, but also have an increased incidence of neurodegeneration. A diagnosis of XP should be considered in a child with either severe sunburn, increasing lentigines at exposed sites, or development of multiple skin cancers at an early age. Skin biopsy and subsequent testing in cell cultures for defective DNA repair, confirms or excludes the diagnosis. Mean life expectancy is reduced; the two main causes of mortality are skin cancer and neurodegeneration. These clinical features distinguish XP from other disorders of DNA repair, namely Trichothiodystrophy and Cockayne syndrome, although overlapping syndromes do occur. Instigation of meticulous photoprotection for all XP patients has been shown to reduce both the lentigines and number of skin cancers dramatically and would be presumed to increase life expectancy. Compliance with photoprotection is a recognised problem amongst XP patients, particularly in those without easy sunburn. This is further accentuated by lack of social acceptance for people who wear UVR-protective visors. Increased awareness of XP, both within the medical and media spheres will benefit current and future XP patients; this will aid earlier diagnosis and timely photoprotection, with better compliance, and therefore, result in an improved prognosis.

Burning issues in the diagnosis of xeroderma pigmentosum

Burning issues in the diagnosis of xeroderma pigmentosum

Unexpected Occurrence of Xeroderma Pigmentosum in an Uncle and Nephew

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a decreased ability to repair DNA damaged by UV radiation and the early development of cutaneous and ocular malignant neoplasms. Approximately 20% of patients with XP also develop progressive neurologic degeneration. We describe a boy who was found to have XP after a severe burn following minimal sun exposure. His maternal uncle, now age 20 years, had been diagnosed with XP after a similar sunburn in infancy. The uncle has the typical skin pigmentary findings of XP along with severe progressive neurologic involvement. Although the infant's parents were not known to be blood relatives, the infant and his affected uncle proved to be compound heterozygotes for the same 2 frameshift mutations in the XPA DNA repair gene (c.288delT and c.349_353del). After the diagnosis of XP in the infant, genealogic investigation identified a common Dutch ancestor for both of his grandfathers 5 generations back. Counseling families at risk for a rare inherited disease is not always straightforward. The sociocultural and demographic backgrounds of the families must be considered for evaluation of risk assessment.

Phenol Intoxication in a Child

Phenol preparations are used in dermatology and plastic surgery for the treatment of acne and during chemical face peeling. At this institution, phenol peeling is used in addition to mechanical dermabrasion for the elimination of subclinical premalignant lesions of patients having xeroderma pigmentosum. As the phenol peel is performed, most surgeons concentrate on skin results, ignoring systemic complications. Local histological changes and systemic toxicity have been seen during applications. Cardiac arrhythmias and even sudden death have been reported. The high incidence of cardiac arrhythmias after topical application of phenol preparations is demonstrated. The case of an 11-year-old boy with a diagnosis of xeroderma pigmentosum who underwent mechanical dermabrasion and chemical peeling with phenol and then developed severe cardiac arrhythmias is reported. A serious systemic toxic effect on cardiac rhythm from cutaneously applied phenol occurred in this case.

Diagnosis of Xeroderma Pigmentosum by Measuring Unscheduled DNA Synthesis

Diagnosis of Xeroderma Pigmentosum by Measuring Unscheduled DNA Synthesis

Epidermal Appendage Tumors in Xeroderma Pigmentosum

To the Editor.— Neoplastic changes seen in xeroderma pigmentosum (XP) are basal and squamous cell carcinomas, malignant melanomas, keratoacanthomas, angiomas, fibromas, and sarcomas.1Xanthomas, neurofibromas,2and true neuromas3have also been reported in XP. To this list we add two epidermal appendage tumors, a pilomatricoma (Malherbe's calcifying epithelioma), and a sebaceous gland carcinoma. Report of a Case.— A 7-year-old boy was admitted to Hacettepe University Hospital, Ankara, Turkey, on Sept 29, 1970, due to dry, freckled, and scaly facial skin. This disorder, which had developed at 1.5 years of age, was related to sunlight exposure. Medical history revealed parental consanguinity and presence of the same disorder in two of five siblings. Physical signs, which included telangiectasia, small areas of hypopigmentation, and atrophy of facial skin, led to a clinical diagnosis of XP. There were no dysplastic nevi. The patient's neurologic examination results and mental status were normal.