Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report

Caso, Ever Rodriguez; Marcos, Alléxya A A; Morales, Melina Correia; Belfort, Rubens

doi:10.4103/ijo.ijo_1106_18

Cited by 8 publications

(4 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Moreover, some patients show progressive neurologic and ophthalmologic degeneration [2,3,5,6]. Compared to the health population, XP patients demonstrated a skin cancer occurrence that is increased up to 10,000-fold for non-melanoma skin cancer (NMSC), such as basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), while melanoma is reported to be 2000-fold more frequent in xeroderma pigmentosum [7,8].…”

Section: Clinical Features Of Xeroderma Pigmentosummentioning

confidence: 99%

Xeroderma Pigmentosum: General Aspects and Management

Piccione

Fortina

Ferri³

et al. 2021

JPM

View full text Add to dashboard Cite

Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the most severe form. To date, the management of XP patients consists of (i) early diagnosis; (ii) a long-life protection from ultraviolet radiation, including avoidance of unnecessary UV exposure, wearing UV blocking clothing, and use of topical sunscreens; and (iii) surgical resections of skin cancers. No curative treatment is available at present. Thus, in the last decade, in order to prevent or delay the progression of the clinical signs of XP, numerous strategies have been proposed and tested, in some cases, with adverse effects. The present review provides an overview of the molecular mechanisms featuring the development of XP and highlights both advantages and disadvantages of the clinical approaches developed throughout the years. The intention of the authors is to sensitize scientists to the crucial aspects of the pathology that could be differently targeted. In this context, the exploration of the process underlining the conception of liposomal nanocarriers is reported to focus the attention on the potentialities of liposomal technology to optimize the administration of chemoprotective agents in XP patients.

show abstract

Section: Clinical Features Of Xeroderma Pigmentosummentioning

confidence: 99%

Xeroderma Pigmentosum: General Aspects and Management

Piccione

Fortina

Ferri³

et al. 2021

JPM

View full text Add to dashboard Cite

show abstract

“…1 Ocular features are predominantly isolated but have rarely been coexistent like combined squamous cell carcinoma and malignant melanoma of the conjunctiva in the same eye, lid and conjunctival malignancy, vascularized opaque cornea, iris atrophy and early keratinization. [2][3][4] We are not aware of any case in literature presenting simultaneously bilaterally with multiple ocular surface findings in a case of XP. We report a case of a young patient with XP with bilateral Ocular Surface Squamous Neoplasia (OSSN), bilateral corneal involvement in the form of guttate in the right eye and corneal scarring following corneal decompensation in the left eye, both occurring simultaneously.…”

Section: Introductionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Management of coexisting bilateral ocular surface disease in xeroderma pigmentosum - sequence and outcomes

Rajagopal

Srinivasan

Iyer

et al. 2022

European Journal of Ophthalmology

View full text Add to dashboard Cite

Purpose To report a rare presentation of bilateral, coexisting ocular surface disease in a case of Xeroderma pigmentosum and its successful management. Methods Case report. Results A 21-year-old male with Xeroderma pigmentosum presented with bilateral ocular surface squamous neoplasia (OSSN) along with central guttae in the right eye and corneal decompensation of the left eye. Subsequently, the patient developed dry eyes and lid margin keratinization in both eyes followed by perforation in the left eye. Sequential procedures both medical and surgical, including excision of the tumour, corneal transplantation and mucous membrane grafting addressing each of these ocular surface issues resulted in a successful outcome. There was no recurrence of the tumour over 3 years. Corneal transplantation is preferably done after a minimum of 6 months following excision. Mucous membrane grafting performed for progressive lid margin keratinization resulted in surface stabilization. Conclusions In Xeroderma Pigmentosum, multiple ocular surface features can rarely coexist and be bilateral. Periodic evaluation of the surface for tumours, progressive dry eyes and endothelial function is recommended as a part of routine evaluation in Xeroderma pigmentosum. Surface procedures should precede intraocular intervention. Sequential management can result in successful outcomes.

show abstract

“…Risk factors include exposure to ultraviolet light B (2,3) ; therefore, a higher incidence is observed in countries close to the equator (4) . Other risk factors associated with OSSN are fair skin, human papilloma virus infection (5,6) , human immunodeficiency virus (7) , other forms of immunosuppression (8)(9)(10)(11)(12)(13) , age, male sex (1,2,14) , and xeroderma pigmentosum (2,15) .…”

Section: Introductionmentioning

confidence: 99%

Nova abordagem de baixo custo para neoplasia escamosa da superficie ocular usando fotocoagulação tipo pattern scanning

Rodriguez¹,

Sancho²,

Kange³

et al. 2020

Arquivos Brasileiros De Oftalmologia

View full text Add to dashboard Cite

To evaluate the safety and 12-month effect of treatment with pattern scanning laser photocoagulation for ocular surface squamous neoplasia in a low-resource setting with extremely limited access to an operating room. Methods: Adult patients with a clinical diagnosis of ocular surface squamous neoplasia underwent a complete ophthalmologic examination. After topical anesthesia and instillation of toluidine blue 1%, the lesion was treated using pattern scanning photocoagulation for a duration time that varied from 20 to 100 ms and power from 600 to 1,800 mW. Patients were examined on a weekly basis for the first month and underwent weekly retreatment of the remaining lesions, as necessary. Patients had a minimum follow-up of 12 months. Results: Thirty-eight patients (38 eyes) were included. All patients had clinical ocular surface squamous neoplasia that was confirmed by impression cytology. The age of patients ranged from 40 to 83 years (average: 65.5 years) and 28 of them were males (74%). The patients were divided into two groups: group I (immunocompetent) and group II (immunosuppressed). In group I, 23 patients (74%) presented complete response with lesion control after laser treatment alone. In group II, two of seven patients (28%) showed treatment response during the follow-up. The average number of treatments was 2.5 (one to six laser treatments). Procedures were well tolerated. Conclusion: Short-term results of the laser photocoagulation approach for the treatment of ocular surface squamous neoplasia conjunctival lesions were favorable, with a 74% success rate observed in immunocompetent patients. This novel strategy is a less resource-intensive alternative that could demonstrate its usefulness in settings with shortages in operating rooms and in recurrent cases. Studies with longer follow-ups and larger sample sizes are warranted to confirm our findings and evaluate the effectiveness of laser treatment in association with topical chemotherapy.

show abstract

Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report

Cited by 8 publications

References 14 publications

Xeroderma Pigmentosum: General Aspects and Management

Xeroderma Pigmentosum: General Aspects and Management

Management of coexisting bilateral ocular surface disease in xeroderma pigmentosum - sequence and outcomes

Nova abordagem de baixo custo para neoplasia escamosa da superficie ocular usando fotocoagulação tipo pattern scanning

Contact Info

Product

Resources

About