Multiple Facial Basal Cell Carcinoma With Xeroderma Pigmentosum.

Multiple basal cell carcinomas are rare in children and adolescents. Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease characterized by photosensitivity, changes in skin pigmentation, and early onset of skin cancer. XP is extremely rare in clinical practice, with only a few cases worldwide. XP is clinically incurable. The main goal of treating this disease is to diagnose as early as possible, educate patients to strictly avoid ultraviolet radiation for life, and follow up regularly to treat skin malignant tumors in time. The authors report a 15-year-old boy with facial multiple basal cell carcinoma with XP. Its medical history, clinical features, auxiliary examination, and surgical treatment process have great reference value for the in-depth understanding of the disease. The authors will discuss how to delay the progression of the disease and treat the existing lesions in different clinical stages of the disease in combination with the existing relevant literature.

Marginal Mandibulectomy and Oral Rehabilitation of Xeroderma Pigmentosum Patient.

Xeroderma pigmentosum (XP) may cause tissue deformation in patients who have undergone oral cancer surgery requiring resection of any part of the mandible. Oral rehabilitation is a pivotal factor in the restoration of function and esthetics. The aim of this study was to report a clinical case of successful prosthetic rehabilitation of a 57-year-old woman who presented with marginal mandibulectomy and a significant reduction in maximal mouth opening after treatment for XP. With her reduced opening and considerable loss of structure and tissue, she had difficulty speaking, swallowing, and altered esthetics. The oral rehabilitation was performed with complete maxilla denture and mandible overdenture retained by 2 implants. This case demonstrates that the rehabilitation with mandible overdentures and complete maxilla dentures provide function and esthetic improvement in the mutilated area for XP patients with marginal mandibulectomies.

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

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.

Outcomes of keratoplasty in a cohort of Indian patients with xeroderma pigmentosum.

Purpose: To evaluate the outcomes of keratoplasty for xeroderma pigmentosum (XP) performed at a tertiary eye care center. Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have XP (54 eyes of 36 patients) and underwent keratoplasty; either deep anterior lamellar keratoplasty (DALK, four eyes), endothelial keratoplasty (EK, eight eyes), or penetrating keratoplasty (PK, 42 eyes) from 1994 to 2018. Results: The median age at surgery was 20.6 years (interquartile range [IQR], 14.6-27.6 years) and 20 (55.6%) were males. Graft failure occurred in 15 eyes (35.7%) in the PK group and two eyes (50%) in the DALK group; none failed in the EK group. The probability of graft survival in the PK group was 97.2% ± 2.7% at 1 year, 74.0% ± 8.0% at 2 years, and 54.8% ± 11.7% at 5 years. In the PK group, 13 eyes needed antiglaucoma medications, 11 eyes developed graft infiltrate, and 13 eyes needed secondary interventions (cataract surgery, excision biopsy, and tarsorrhaphy). In the EK group, three eyes needed secondary interventions (excision biopsy). Median postoperative endothelial cell density at the last follow-up in the PK group was 1214 cells/mm2 (IQR, 623-2277 cells/mm2). Conclusion: Despite the complexities of the ocular surface and adnexal issues in XP, keratoplasty had reasonably good outcomes. More than half of the PK grafts survived 5 years with no failures in the EK group. Regular follow-up and timely management of suture-related infections raised intraocular pressure, and suspicious ocular surface lesions, in addition to solar protection, are important for the success of keratoplasty in these eyes.

Ocular Features in a Large Cohort of Indians With Xeroderma Pigmentosum.

PURPOSE: Xeroderma pigmentosum (XP) is an extreme hypersensitivity to sunlight causing skin freckling and pigmentary changes because of defective DNA repair mechanisms. The purpose of this article is to evaluate the spectrum of ocular and systemic features in XP at a tertiary eye care center in India over 32 years. METHODS: Data from 418 eyes of 209 patients diagnosed with XP from 1987 to 2018 were reviewed retrospectively for demographics, complaints, ocular features, systemic associations, and their management. RESULTS: Median age at diagnosis was 2 years (interquartile range, 0.5-5 years). A total of 124 patients (59.3%) were men. There was parental consanguinity in 74.4% cases. Common ocular complaints were photophobia (47.1%), ocular discomfort (45%), defective vision (36.6%), redness (13.4%), tissue growth (12%), white spot (11.2%), and pain (10.5%). At presentation, 43.5% had corneal scars (45.5% were located inferiorly and 70.9% covered visual axis). Corneal vascularization and limbal stem cell deficiency were noted in 37.4%. A total of 56% of patients had at least 1 tumor, and 6.7% had neurological abnormalities. At least 1 ocular surgery was performed in 37.8% of patients. Ophthalmic surgical interventions included tumor excision (23%), keratoplasty (13.4%), and nontumor ocular surface surgery (3.4%). CONCLUSIONS: XP is a disorder that has high ocular morbidity in Indian patients. The recognition of common signs and symptoms and relative frequency of various ocular complications with time trends will help in managing and reducing the sequelae of this otherwise untreatable and progressive disease.

Otological surgery in paediatric photosensitive patients.

There are a wide range of genetic and auto-immune conditions where UV light exposure poses a threat of UV irradiation to the external auditory canal, tympanic membrane and surrounding skin. Preoperative Ultraviolet Light (UV) measurements were taken in the operating theatre with standard operating microscope and an approved UV light meter prior to surgery on a patient with xeroderma pigmentosa. UV light meter readings of UV index 75 were taken at an operating distance of 290mm. Proceeding with otological surgery with a high UV index would result in a significant UV radiation burn. Utilising a Dermagard and a specific UV filter applied to the microscope resulted in acceptable UV light readings. We highlight the potential morbidity of otological surgery in paediatric photosensitive conditions. We also recommend a management plan to avoid damage by UV radiation in photosensitive patients.

Xeroderma pigmentosum with bilateral ocular surface squamous neoplasia and review of the literature.

Xeroderma pigmentosum is a rare genetic disorder associated with various ocular malignancies. Here we report a single paediatric case of xeroderma pigmentosum with bilateral ocular surface squamous neoplasia (OSSN) presenting with diffuse lesion in one eye and a large mass in the other eye. Diffuse OSSN in one eye was treated with topical chemotherapy using mitomycin-C (0.04%) and the large OSSN in the other eye was treated with a combination of surgery and topical chemotherapy. Long-term follow-up and a multimodality treatment approach are necessary to identify and manage recurrences of OSSN in XP.

Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger.

Eyelid reconstruction in a child with xeroderma pigmentosum. / Reconstrucción palpebral en niño con xeroderma pigmentoso.

CLINICAL CASE: Seven-year-old male patient, affected by xeroderma pigmentosum (XP) who was referred to ophthalmology due to the presence of numerous tumours in his left eye that affected the eyelids and conjunctiva. He had a tumour in his lower eyelid that affected the free edge, creating a secondary ectropion, and several lesions with a melanocytic appearance in conjunctiva. A resection of the eyelid tumour and the conjunctival lesions were performed by placing a skin graft and amniotic membrane, respectively, as covering. DISCUSSION: XP patients have high probability of developing eye tumours. A thorough ophthalmic examination is necessary to establish an early diagnosis.

Descemet Stripping Automated Endothelial Keratoplasty for Endothelial Dysfunction in Xeroderma Pigmentosum: A Clinicopathological Correlation and Review of Literature.

Xeroderma pigmentosum (XP) mainly affects the ocular surface; however, endothelial damage may also occur. We would like to report changes in the endothelial-Descemet layer and review the literature on similar findings in patients with XP, including the role of Descemet stripping automated endothelial keratoplasty (DSAEK) in the management of a 21-year-old man who presented with nonresolving corneal edema in the right eye after excision biopsy for conjunctival intraepithelial neoplasia. His best-corrected visual acuity (BCVA) was 20/200 in the right eye and 20/20 in the left eye. On general examination, there was patchy hyperpigmentation of the exposed areas of skin suggestive of XP. On examination of the right eye, there was stromal edema involving the exposed half of cornea. The left eye appeared normal. Pachymetry readings were 860 and 600 µm in the right and left eye, respectively. Descemet stripping automated endothelial keratoplasty was performed for endothelial dysfunction and the stripped endothelium, and Descemet membrane (DM) was sent for histopathologic evaluation. Postoperatively, the donor lenticule was well apposed and the overlying stromal edema resolved. The patient achieved a BCVA of 20/30 in the right eye without progression of corneal scarring at 1-year follow-up. In the meanwhile, however, the left eye developed corneal edema. Histopathology revealed gross attenuation of endothelial cells with uniform thickness of the DM. Corneal endothelial dysfunction in XP is amenable to treatment with DSAEK.

Invasive basal cell carcinoma in a xeroderma pigmentosum patient: facing secondary and tertiary aggressive recurrences.

Xeroderma pigmentosum (XP) is characterized by photohypersensitivity of sun-exposed tissues and several thousand-fold increased risk of developing malignant neoplasms of the skin and eyes. Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition XP. A 56-year-old woman with XP presented with an extensive multirecurrence basal cell carcinoma in the left naso-orbital region. At the time of the first visit, the patient had already received several interventions with local reconstructive techniques, a full course of radiotherapy, and bilateral neck dissection. A large tumor resection and free flap reconstruction were performed. Three years 9 months afterward, an aggressive recurrence occurred, and a second resection was needed. A new free flap was transferred, and microvascular anastomoses were done to the pedicle of the previously transferred flap. Nine months later, the patient returned with frontal bone tumoral lesions, and third microsurgical intervention was done. At that time, the reconstruction was practiced by a composite chimeric flap with a rib portion. Its pedicle was anastomosed to the one of the second free flaps. The objective of this article was to report the authors' experience concerning a unique case of XP requiring a complex reconstruction of the anterior skull base. Xeroderma pigmentosum patients need an early diagnosis and removal of cutaneous tumor lesions as some of them behave aggressively, especially those affecting the face. Free flaps are good solutions for reconstruction and should proceed from non-sun-exposed areas of the body. If reconstructed areas are highly radiated and/or skin tumors affect deep anatomical areas, complications are frequent.

Type I keratoprosthesis for visual rehabilitation of patients with xeroderma pigmentosum.

A 6-year-old girl, a case of xeroderma pigmentosum (XP), presented with a visual acuity (VA) of 20/20 and 20/400 in the right and left eye, respectively. For a diagnosis of vascularised corneal scar, penetrating keratoplasty was performed in the left eye twice and ultimately graft failed following multiple episodes of rejection. Type I keratoprosthesis was performed in the left eye. She continues to maintain VA of 20/40 in the left eye for more than a year. Similarly, a 24-year-old man, a case of XP, presented with VA of finger counting at 1 metre in both eyes. Ocular examination showed bilateral vascularised corneal scar and conjunctivalisation. Type I keratoprosthesis was performed as primary procedure in the left eye. He maintains a VA of 20/30 for more than a year. Type I keratoprosthesis could be a primary procedure for visual rehabilitation in patients with XP with severe ocular surface disease.

Corneal changes in xeroderma pigmentosum: a clinicopathologic report.

PURPOSE: To report the clinicopathologic features of corneal involvement in patients with xeroderma pigmentosum. DESIGN: Retrospective review of corneal histopathology. METHODS: Thirteen corneal specimens of 11 patients with xeroderma pigmentosum who underwent keratoplasty (lamellar/full-thickness) for corneal involvement were studied. Five-micrometer-thick sections were made from all the samples and stained using hematoxylin-eosin and periodic acid-Schiff stains. A light microscopic examination was performed to study the histopathologic changes. RESULTS: The corneal findings on clinical examination were haze, scarring, vascularization, stromal edema, pigment clumps on endothelial surface, and corneal thinning. The histopathologic evaluation revealed changes in all layers of cornea. Epithelial changes seen were intraepithelial edema, fibrosis, epithelial downgrowths, and pannus formation. The Bowman membrane was fragmented or absent. Stroma was characterized by alteration in the lamellar pattern, scarring, edema, loss of keratocytic nuclei, and calcification. The Descemet membrane was thickened to a variable extent in most specimens and there was marked loss of endothelial cells in all. CONCLUSION: Most histologic features are consistent with the previous few reports. The remarkable finding in all corneal specimens was a moderate to severe degree of loss of the endothelial cells. This noteworthy finding supports the ultraviolet (UV) radiation-induced endothelial cell damage in these patients. This has an important clinical implication when planning for anterior lamellar keratoplasty, as endothelial cell density may be subnormal in these patients.

Xeroderma pigmentosum with melanoma of face and its prosthetic management.

Xeroderma pigmentosum is a rare genetic disorder, characterized by cutaneous, ocular and neurological symptoms. Squamous cell carcinoma and melanoma are also its secondary characters. This case report is about maxillofacial prosthetic management of a 10 years old child presented with xeroderma pigmentosum. The nose of the patient was excised surgically due to melanoma. This case report elaborates the role of prosthodontist and the whole procedure of constructing the nasal prosthesis via conventional technique by using the patient's sibling nasal form as template. Regular follow up revealed marked improvement in esthetics, function and ultimately patient's quality of life.