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Year : 2021  |  Volume : 14  |  Issue : 3  |  Page : 380-383

Oculocutaneous manifestations of Xeroderma pigmentosum in children: A prospective case series

1 Department of Ophthalmology, IMS and SUM Hospital, Bhubaneswar, Odisha, India
2 Department of Dermatology, IMS and SUM Hospital, Bhubaneswar, Odisha, India

Date of Submission11-Feb-2021
Date of Acceptance03-May-2021
Date of Web Publication30-Sep-2021

Correspondence Address:
Dr. Jasmita Satapathy
Department of Ophthalmology, IMS and SUM Hospital, Bhubaneswar - 751 003, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kleuhsj.kleuhsj_24_21

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Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a gene defect, leading to deficient deoxyribonucleic acid repair. The sun-exposed areas of the body predominantly skin, eyelid, and ocular surface are greatly affected by ultraviolet radiation. In this case series, we report eight children with XP seen over a period of 5 years. All these cases had complaints of photophobia and early lentiginosis in sun-exposed area. Clinical presentation varied from lid freckles, conjunctival hyperemia, conjunctival melanosis, corneal opacity with vascularization, actinic keratosis to skin malignancy. One child with squamous cell carcinoma of the neck died at the age of 5 years. This case series describes the oculocutaneous manifestations seen in Indian children with XP. It also highlights the significance of regular multidisciplinary health check-up to prevent life-threatening complications in these patients.

Keywords: Conjunctival melanosis, cutaneous malignancies, eye lid freckles, photophobia, ultraviolet radiation

How to cite this article:
Mishra S, Satapathy J, Kar BR. Oculocutaneous manifestations of Xeroderma pigmentosum in children: A prospective case series. Indian J Health Sci Biomed Res 2021;14:380-3

How to cite this URL:
Mishra S, Satapathy J, Kar BR. Oculocutaneous manifestations of Xeroderma pigmentosum in children: A prospective case series. Indian J Health Sci Biomed Res [serial online] 2021 [cited 2022 Aug 13];14:380-3. Available from: https://www.ijournalhs.org/text.asp?2021/14/3/380/327254

  Introduction Top

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by heightened sensitivity to the deoxyribonucleic acid (DNA) damaging effects of ultraviolet (UV) radiation.[1],[2],[3] It has a 10,000-fold increased risk for skin cancer and a 2000-fold increased risk for cancer of eye and ocular adnexa.[2],[4] Patients usually present with freckle-like pigmentation in sun-exposed skin before 2 years of age, severe photosensitivity after minimal sun exposure, and damage to ocular surface with permanent loss of vision. About 25% of patients may develop a progressive neurodegeneration.[2] There is no definitive treatment for XP, but many of its complications may be reduced by consistent UV protection, thus helping these patients to live active lives.

  Case Report Top

This case series included eight children with XP of age ranging from 8 months to 12 years, comprising five boys and three girls. There was a history of consanguinity in parents of three children. Out of them, two were siblings and the older child died subsequently at the age of 5 years due to cutaneous malignancy. Four children had stunted growth. All cases had complaints of photophobia and early lentiginosis in sun-exposed area. The age of onset of disease manifestations was within 2 years of life in majority of cases (five out of eight); one had as early as 20 days. The clinicodemographic details [Figure 1], [Figure 2], [Figure 3], [Figure 4] of all children with XP are shown in [Table 1].[1],[2],[3],[4]
Figure 1: Clinical photograph of a 12-year-old boy (case 1) showing conjunctival melanosis along with skin hyperpigmentation over cheek and nose

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Figure 2: Clinical photograph of a 4-year-old boy (case 7) showing skin hyperpigmentation over cheek and nose

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Figure 3: Clinical photograph of a 4-year-old boy (case 2) showing conjunctival injection

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Figure 4: Clinical photograph (case 2) showing photophobia and early lentiginosis over eyelids, face, neck, and arm. There is a growth measuring 1.5 cm × 2 cm over the scalp on right side

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Table 1: Clinicodemographic details of children with xeroderma pigmentosum

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Dry eye evaluation could be performed in three cases. Tear film break-up time was found to be grossly reduced in these cases.

  Discussion Top

Moritz Kaposi, a Hungarian dermatologist, first described XP as a severe form of photosensitivity disorder associated with pigmentation of skin in sun-exposed area.[1]

UV radiation, particularly spectrum B, causes photo products in DNA, which leads to cell death, mutagenesis, carcinogenesis, and cellular aging.[5] XP is an autosomal recessive disorder resulting from mutations in any of the eight genes responsible for restoration of UV radiation-induced DNA damage. This results in accelerated skin aging and cellular transformation causing malignancies in young age.[6]

Symptoms may differ from person to person, but it typically affects the skin, eyes, and nervous system. These patients develop lentiginosis on all sun-exposed area, often seen first on face. In this case series, all children had early skin freckles mostly on scalp, face, neck, and extremities. Basal cell carcinoma, squamous cell carcinoma (SCC), and malignant melanoma are common neoplasms seen in XP. Out of eight cases, we noted SCC in three children. One child had multiple SCC on the scalp at the age of 4 years. All growths were excised and confirmed to be SCC on histopathology[5] [Figure 5]. Two months later, the child presented again with few more similar lesions on the scalp. Due to anatomical peculiarity and rich vascularity, SCC in the scalp tends to have an aggressive course. Hence, any such lesions should be excised as early as possible. The other two children had solitary lesions; one had on neck and the other had on lip. The child with SCC on the neck died at the age of 5 years. Avoidance of UV exposure right from birth and medical check-up at regular intervals can prevent such life-threatening malignancies in children with XP.
Figure 5: Histopathology of the excised scalp lesion (case 2). Hematoxylin and eosin-stained tissue (a, ×40 and b, ×100) showing stratified squamous epithelium with loss of polarity, parakeratotic pearls, pleomorphism, prominent nucleoli, and increased mitosis (micro-invasive squamous cell carcinoma)

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The eyelids and ocular surface are usually affected within the first decade of life.[7] Photophobia is common and is often noted in early childhood. Patients with XP also develop sunlight-induced conjunctival inflammation, dry eye, keratitis, and corneal opacification with vascularization. These combined effects may contribute to permanent loss of vision. With repeated sun exposure, the lids of the eyes may undergo atrophic degeneration. Cancers of the eyelids and ocular surface have been reported.[2],[3],[8] Among various ocular features, we noted photophobia, excessive lacrimation, lid freckles, blepharitis, conjunctival injection, corneal opacity, punctate keratitis, and dry eye. We did not find any case of ocular malignancy.

XP is frequent after consanguineous marriage.[9] In this case series, consanguinity was found in parents of about one-third of children. All these cases were from southern districts of Odisha, where consanguinity is a common practice.[10] In this case series, consanguinity was found in parents of about one-third of children. All these cases were from southern districts of Odisha.

  Conclusion Top

Children with XP, who presented to a tertiary eye care center in Eastern India, had a high percentage of consanguinity in parents and early onset of oculocutaneous complications including skin malignancies. Dry eye disorder is also common among these patients. Although XP is a rare disease, risk of death in childhood due to complications is very high. XP is not curable; however, most of its complications can be reduced by preventing consistent UV exposure. Educating the parents to provide adequate sun protection and appropriate medical care from childhood will definitely increase life expectancy in these children.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s)/parents has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients/parents understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis 2011;6:70.  Back to cited text no. 1
DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012;132:785-96.  Back to cited text no. 2
Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D. Rook's Textbook of Dermatology. London:John Wiley and Sons; 2016. p. 78.1-12.  Back to cited text no. 3
Tamura D, DiGiovanna JJ, Khan SG, Kraemer KH. Living with xeroderma pigmentosum: Comprehensive photoprotection for highly photosensitive patients. Photodermatol Photoimmunol Photomed 2014;30:146-52.  Back to cited text no. 4
Naik SM, Shenoy AM, Nanjundappa A, Halkud R, Chavan P, Sidappa K, et al. Cutaneous malignancies in xeroderma pigmentosum: Earlier management improves survival. Indian J Otolaryngol Head Neck Surg 2013;65:162-7.  Back to cited text no. 5
Hasan S, Saeed S. Xeroderma pigmentosum-A rare genodermatosis: Overview of literature. J Pigment Disord 2015;2:230.  Back to cited text no. 6
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, et al. Ocular manifestations of xeroderma pigmentosum: Long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 2013;120:1324-36.  Back to cited text no. 7
Ramkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ, Kraemer KH, et al. Ophthalmic manifestations and histopathology of xeroderma pigmentosum: Two clinicopathological cases and a review of the literature. Surv Ophthalmol 2011;56:348-61.  Back to cited text no. 8
Schubert S, Lehmann J, Kalfon L, Slor H, Falik-Zaccai TC, Emmert S. Clinical utility gene card for: Xeroderma pigmentosum. Eur J Hum Genet. 2014;22. doi: 10.1038/ejhg.2013.233.  Back to cited text no. 9
Balgir RS. Health care challenges of hereditary common hematological disorders in Odisha, India. Online J Health Allied Sc 2012;11:2.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

  [Table 1]


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