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Year : 2022  |  Volume : 6  |  Issue : 1  |  Page : 55

Type E xeroderma pigmentosum: Rare case of siblings

1 Department of Dermatology, Venereology and Leprosy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India
2 Department of Pathology, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India

Date of Submission14-Jul-2020
Date of Decision16-Oct-2020
Date of Acceptance23-Nov-2020
Date of Web Publication25-Feb-2022

Correspondence Address:
Sonia Pramod Jain
Department of Dermatology, Venereology and Leprosy, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Wardha - 442 102, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/CDR.CDR_105_20

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Xeroderma pigmentosum (XP) is an inherited condition with an extreme sensitivity to ultraviolet radiations. This condition mostly affects the eyes and areas of skin exposed to the sun and the nervous system. Here, we report a rare type XP E present in siblings. A 24 year old married female came to the dermatology outpatient Department with chief complaints of multiple dark-colored raised lesions over the nose, cheeks, eyebrows, forehead with hypopigmented lesions over bilateral forearm since 10 years. Her 21-year-old younger brother had similar lesions over face since 8 years. Both had a history of bilateral cataract with no neurological abnormality. Based on history, clinical and histopathological examination the diagnosis of XP E type was made. As per our knowledge, very few cases of this rare variety of XP E in siblings have been reported. Hence, we report this rare XP E in siblings.

Keywords: Cataract, siblings, xeroderma pigmentosum E

How to cite this article:
Kumari P, Jain SP, Sonkusale P, Deshmukh AV. Type E xeroderma pigmentosum: Rare case of siblings. Clin Dermatol Rev 2022;6:55

How to cite this URL:
Kumari P, Jain SP, Sonkusale P, Deshmukh AV. Type E xeroderma pigmentosum: Rare case of siblings. Clin Dermatol Rev [serial online] 2022 [cited 2022 Sep 25];6:55. Available from: https://www.cdriadvlkn.org/text.asp?2022/6/1/55/338575

  Introduction Top

Xeroderma pigmentosum (XP) first described by Kaposi and Hebra in 1874, is a rare hereditary familial skin condition which usually begins in early childhood.[1] It is a multigenic, multiallelic, autosomal recessive disorder with eight known subtypes to affect about 1 in 1 million people in the United States and Europe and 1 out of every 250,000 people worldwide.[2] The basic defect in XP is mutations in various genes and eight of them have been identified XPA to XPG and XPV. These genes are involved in nucleotide excision repair (NER) of carcinogen adducts after ultraviolet (UV) irradiation, and mutations leads to deficient repair of DNA. The various types differ with respect to disease severity, frequency and clinical feature, for example, XPG is very severe, whereas XPF is mild, XPA appears to be more common.[3],[4],[5],[6] Each type is marked by the gene's inability to repair, or replicate, DNA that has been damaged by UV light. Extreme sensitivity to light, sunburn, skin cancer, ocular changes along with neurological complications are present in various degrees in various subtypes [Table 1]. XP has to be differentiated from similar disorders such as trichothiodystrophy, cockayne syndrome, cerebrooculofacioskeletal syndrome, and erythropoietic porphyria.
Table 1: The different types of xeroderma pigmentosum

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  Case Report Top

Twenty-four years old married female born to nonconsanguinous parents presented to the dermatology outpatient department with multiple dark-colored raised lesions over nose, cheeks, eyebrows, and forehead since 10 years [Figure 1]a. Lesions started insidiously over the nasal bridge then progressed to involve bilateral cheeks, eyebrows, and forehead. She also gave a history of hypopigmented macular lesions over bilateral forearm and dorsum of hands since 10 years which started from dorsum of hands and progressed to bilateral forearms [Figure 1]c. She gave a history of bilateral cataract for which she was operated 2 years back. There was no history of photosensitivity, retardation of growth, intellectual impairment, hair or nail abnormality, and purple discoloration of urine. There was no history of weight loss, topical application prior to appearance of lesions or trauma. She gave a history of cataract and similar lesions over face in 21 years old younger brother [Figure 1]d. There was no history of similar complaints in any other family members. On examination, multiple discrete to confluent hyperpigmented warty papules were present over bridge of nose, cheeks, eyebrows, and forehead along with hypopigmented macules over bilateral forearm and dorsum of hands. A single swelling of size 0.5 cm × 1 cm was present over left eyebrow which was suspected to be a malignant growth. A skin biopsy from cheeks and left eyebrow was performed. Microscopically, H and E stained section of skin biopsy from the cheeks showed increased melanocytes in the basal cell layer and chronic inflammatory cells. The dermis showed the presence of irregular deposition of melanin [Figure 2]a. A biopsy from swelling over left eyebrow showed the presence of malignant squamous cells arranged in sheets. Individual cells showed large amount of keratinized cytoplasm, prominent nuclei, and hyperchromatic nucleoli [Figure 2]b. As there was no genetic or molecular test available in our institute so on the basis of clinical features, we reported this case as XP type E and confirmed it histologically as XP along with the presence of squamous cell carcinoma.
Figure 1: (a) Showing pretreatment lesions of face, (b) Post treatment lesions of face, (c) hypopigmented macules over bilateral forearm and dorsum of hands, (d) Lesions over face of younger sibling

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Figure 2: (a) Skin biopsy showed presence of irregular deposition of melanin (white arrow) (H and E, ×400), (b) skin biopsy showed the presence of malignant squamous cells arranged in sheets (white arrow) (H and E, ×400)

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  Discussion Top

XP is a challenge in most health facilities both for diagnosis as well as management. As it has a mortality rate of 40% before the age of 20 mostly due to melanoma and metastatic squamous cell carcinoma so there are very few treatment options. Very few reports have emanated from other countries including Europe, Egypt, Israel, Korea, China, India, and Pakistan. Bhutto et al. reported 36 cases of XP including sporadic and familial cases in Pakistan and emphasized the tropical nature of the climate.[7]

A recent case series from Kenya reported 5 cases, 2 of whom presented with craniofacial tumours.[8] There is a XP variant in which defect is not in NER, but is instead in post replication repair due to a mutation in DNA polymerase.[3] Seven complementation groups, XPA through XPG, with defects in the corresponding gene.[7] In XPD, as there is constant presence of repair proteins at sites of DNA damage, also contribute to the pathogenesis of skin cancer.[8]

As the disease was affecting her married life, after proper counseling and consent, the patient was started on capsules isotretinoin 30 mg HS, along with topical 5 fluorouracil cream HS and sunscreen. The patient was followed up every 15 days, and response of the treatment was visible in terms of flattening of papular lesions [Figure 1]b. She was advised regarding genetic counseling for XP for her future generation. The patient was referred to the department of surgery for the management of squamous cell carcinoma.

In conclusion, the management is focused on educating the patient and the parents about effective sun protection and early recognition of cancers. Genetic counseling should be offered for families at risk. Also importance should be given on detailed clinical history and complete general examination in XP.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients 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

English JS, Swerdlow AJ. The risk of malignant m (elanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol 1987;117:457-61.  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
Ortega-Recalde O, Vergara JI, Fonseca DJ, Ríos X, Mosquera H, Bermúdez OM, et al. Wholeexome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One 2013;8:e64692.  Back to cited text no. 3
Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst) 2008;7:1155-67.  Back to cited text no. 4
Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat 2008;29(10):1194-208.  Back to cited text no. 5
Fréchet M, Warrick E, Vioux C, Chevallier O, Spatz A, Benhamou S, et al. Over expression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. Oncogene 2008;27:5223-32.  Back to cited text no. 6
Bhutto AM, Shaikh A, Nonaka S. Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study. Br J Dermatol. 2005;152(3):545-51.  Back to cited text no. 7
Butt FM, Moshi JR, Owibingire S, Chindia ML. Xeroderma pigmentosum: a review and case series, Journal of Cranio-MaxilloFacial Surgery 2010;38(7):534-7.  Back to cited text no. 8


  [Figure 1], [Figure 2]

  [Table 1]


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