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Year : 2015  |  Volume : 11  |  Issue : 3  |  Page : 665

Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma in an infant

1 Department of Laboratory Medicine, 456th Hospital of Jinan Military Command, Jinan, Shandong Province 250031, China
2 Department of Pathology, The General Hospital, Jinan Military Command, Jinan, Shandong Province 250031, China
3 Department of Dermatology, The General Hospital, Jinan Military Command, Jinan, Shandong Province 250031, China

Date of Web Publication9-Oct-2015

Correspondence Address:
Jinfeng Zheng
Department of Pathology, The General Hospital, Jinan Military Command, 25 Shifan Road, Jinan, Shandong Province 250031
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.143357

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 > Abstract 

A rare case of xeroderma pigmentosum coexisted with keratoacanthoma in an 18-month-old boy was reported. The boy was admitted with unequal size, irregularly shaped brown spots, patches and depigmentation spots on his face. A well-circumscribed hemispherical mass measuring 3 cm × 3 cm with smooth surface and brown patches was observed beneath his left lower eyelid. Light microscopic examination of the skin lesions revealed epidermal hyperkeratosis, chronic inflammatory infiltration of the superficial dermal layer, and increases in melanocytes and melanin in the basal layer. The mass beneath the left lower eyelid was cup-shaped, consisting of proliferating squamous cells with a central keratin plug. The squamous epithelium was acanthotic with hypergranulosis. The adjacent epidermis formed exophytic projections resulting in a silhouette likened to lips. The patient was treated with a combination of antioxidant drugs, keeping the child from light and surgical excision of the mass. No recurrence has been observed.

Keywords: Clinicopathology, keratoacanthoma, xeroderma pigmentosum

How to cite this article:
Han X, Jing H, Liu C, Zheng J. Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma in an infant. J Can Res Ther 2015;11:665

How to cite this URL:
Han X, Jing H, Liu C, Zheng J. Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma in an infant. J Can Res Ther [serial online] 2015 [cited 2020 May 31];11:665. Available from: http://www.cancerjournal.net/text.asp?2015/11/3/665/143357

FNx01The first two authors contributed equally to the manuscript.

 > Introduction Top

Xeroderma pigmentosum (XP) is a rare autosomal recessive inherited disorder caused by exposure to ultraviolet radiation. The skin of patients with XP is sensitive to light, which can induce skin desquamation, brown spots and patches, and even skin tumors, eye damage and tumors in the viscera. Keratoacanthoma is a rapidly growing skin tumor, occurring primarily in older men, but rarely in children. We describe here the clinical and histopathological features of an infant with both XP and keratoacanthoma.

 > Case report Top

An 18-month-male child was brought to our center. At age 3 months, he had developed facial skin redness, blisters and desquamation after exposure to sunlight. Antiinflammatory ointments and other treatments were not successful. At age 6 months, brown pigmentation spots appeared on his face; the color of the spots deepened after irradiation, but became gradually weaker in the dark. At age 16 months, two grain size red papules appeared below his left lower eyelid. One gradually faded, but the other grew rapidly, being 3 cm × 3 cm in size after 1 month. At age 18 months, he was admitted to our hospital.

Dermatologic examination showed visible brown, disfiguring spots and patches, of different sizes and irregular shapes on his face. In addition, a 3.0 cm × 3.0 cm hemispheric globular mass, with clear borders and a rough appearance, was observed below his left lower eyelid [Figure 1]. A biopsy was taken of a patch on his facial skin. In addition, the neoplasm below the left lower eyelid was resected.
Figure 1: Photograph showing a brown patch on his face and a mass below his left eyelid

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Grossly, the skin biopsy tissue was beige in color, 0.3 cm × 0.3 cm × 0.3 cm in size with a dark brown, toughened surface. The neoplasm below the left lower eyelid was hemispheric in shape and measured 3.5 cm × 3.4 cm × 3.4 cm. A beige patch was observed, with the dome showing visible erosion in the center. The mass had clear boundaries, was pale beige in color, and showed a rough appearance on cross section.

Histologic examination of the skin biopsy showed epidermal hyperkeratosis, chronic inflammatory cell infiltrates of the dermis lamina, a large number of melanocytes in the basal cell layer, irregularly increased melanin, and tissue cells containing pigment [Figure 2] and [Figure 3]. Histologic examination of the resected mass showed a typical crater in the epidermis filled with keratin material. Lip-like epidermal hyperplasia was observed around the mass on both sides of the edge, as well as false epithelioma hyperplasia at the bottom of the mass. The epithelial mass was irregular in shape, indicative of compound angular formation, and had clear boundaries as well as containing large numbers of lymphocytes, eosinophils and tissue cells [Figure 4] and [Figure 5].

Our patient was treated by nonexposure to sunlight plus treatment with antioxidants and resection of the acanthoma. He showed good recovery, with no recurrence of tumor 8 months after surgery. He is being closely followed-up.
Figure 2: Slide for xeroderma pigmentosum

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Figure 3: Histopathology of the brown patch showing epidermal hyperkeratosis, increased numbers of melanin cells, and chronic infiltration of inflammatory cells into the dermis lamina (H and E, ×200)

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Figure 4: Slide for keratoacanthoma

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Figure 5: Histopathology of the cornification acanthoma below the left lower eyelid (H and E, ×100). The epidermis of the mass has a typical crater, filled with keratin material. False epithelioma hyperplasia was observed at the base of the mass

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 > Discussion Top

Xeroderma pigmentosum is a rare autosomal recessive disease caused by defective DNA repair in various cutaneous and ocular cells following exposure to sunlight. [1],[2],[3] XP is characterized by freckles and dry skin, similar to solar dermatitis, on exposed parts of the body, including the face, lips, conjunctiva, neck and legs. Some spots are pigmented, being gray or beige in color, whereas others may be depigmented. Patients may develop multiple visceral tumors on the head and neck and may experience nerve damage. Malignant tumors, including basal cell carcinoma, squamous cell carcinoma and melanoma, can also develop.

Keratoacanthoma is a rapidly growing skin tumor, regarded as midway between a benign and malignant tumor or as a malignant tumor, equivalent to a highly differentiated squamous cell carcinoma. These tumors occur mostly on the head and face of elderly individuals. XP associated with keratoacanthoma is extremely rare in children. Our patient was only 18-month-old at presentation. He had an about 3.0 cm × 3.0 cm hemispherical neoplasm on the skin below the lower eyelid, combined with facial erythema, blister, skin desquamation, brown spots and patches.

There have been reports of the associations of keratoacanthoma with XP. Kraemer et al. have reported that 3% of patients with XP had keratoacanthoma. [4] In Bhutto et al.'s study, 2.2% of keratoacanthoma patients were reported to have keratoacanthoma. [5] In addition, Chowdhury et al. described a case of keratoacanthoma of the conjunctiva coexisted with XP. [6]

Xeroderma pigmentosum is caused by exposure to ultraviolet radiation, which shows that the skin is sensitive to light. [7] It frequently manifests as skin desquamation, brown spots and patches, and may result in tumors on the skin and viscera, as well as damage to the eyes. It is unclear, however, whether XP can induce cornification acanthoma.

Patients with XP experience irreversible skin damage upon exposure to light. Treatment is based on avoiding this exposure and may include avoidance of being outdoors and use of sunscreen and dark ointments. [8]

To sum up, we reported a rare case of keratoacanthoma of lower eyelid coexisted with XP in an infant. XP is an irreversible cutaneous abnormality caused by the sunlight exposure with poor prognosis. Therapeutic procedures for XP are based on the protection from sunlight exposure. The gene therapy is a new promising approach for XP treatment, however, which is in the process of clinial trial. Cutaneous neoplasms are the complications of XP, keratoacanthoma of which should be differentiated from squamous cell carcinoma. Surgery is an effective therapeutic regimen for XP patients with complicated tumors.

 > Acknowledgments Top

This work was partly supported by the President Fund (Grant No. 2011M02) from the General Hospital, Jinan Military Command.

 > References Top

Chen J, Deng D, Zhou X, Wang X. One case of xeroderma pigmentosum with a family history. J Clin Dermatol 2012;41:45-6  Back to cited text no. 1
Rademakers S, Volker M, Hoogstraten D, Nigg AL, Moné MJ, Van Zeeland AA, et al. Xeroderma pigmentosum group a protein loads as a separate factor onto DNA lesions. Mol Cell Biol 2003;23:5755-67.  Back to cited text no. 2
Sugasawa K. Xeroderma pigmentosum genes: Functions inside and outside DNA repair. Carcinogenesis 2008;29:455-65.  Back to cited text no. 3
Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.  Back to cited text no. 4
Bhutto AM, Shaikh A, Nonaka S. Incidence of xeroderma pigmentosum in Larkana, Pakistan: A 7-year study. Br J Dermatol 2005;152:545-51.  Back to cited text no. 5
Chowdhury RK, Padhi T, Das GS. Keratoacanthoma of the conjunctiva complicating xeroderma pigmentosum. Indian J Dermatol Venereol Leprol 2005;71:430-1.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
Mellon I, Hock T, Reid R, Porter PC, States JC. Polymorphisms in the human xeroderma pigmentosum group a gene and their impact on cell survival and nucleotide excision repair. DNA Repair (Amst) 2002;1:531-46.  Back to cited text no. 7
Ali JT, Mukasa Y, Coulson IH. Xeroderma pigmentosum: Early diagnostic features and an adverse consequence of photoprotection. Clin Exp Dermatol 2009;34:442-3.  Back to cited text no. 8


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


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