Treating Xeroderma Pigmentosum, Rare Skin Disease in Children

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Illustration: Alodokter

Xeroderma Pigmentosum (XP) is a genetic photosensitive disorder that shows susceptibility to skin cancer due to the body’s exposure to sunlight.

The skin shows the most important symptoms and they manifest as reddish skin with black spots. The skin symptom due to exposure to continuous sunlight will cause skin disorders, especially squamous cell carcinoma. Besides the skin, XP also involves other organs, especially parts of the body exposed to the sun such as the head and neck.

How can this disease occur?

XP is a rare genetic disorder that is autosomal recessive. This disorder is characterized by the failure of DNA repair which causes clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. This disease was first described in the late 19th century by Moritz Kaposi, a dermatologist who described severe photosensitivity disorders accompanied by changes in skin color.

Ultraviolet (UV) light consists of the UV A spectrum and the UV B spectrum, where UVB plays an important role in the etiology of XP. UV radiation causes damage in DNA, especially cyclobutane pyrimidine dimers (CPDs) and 6-pyrimidine-4-pyrimidone, subsequently causing cell death, mutagenesis, carcinogenesis, and cell aging.

XP is an autosomal recessive disorder due to mutations in one of eight genes. These genes restore DNA damage caused by UV radiation by a process known as Nucleotide Excision Repair (NER). XP patients experience mutations in one or more NER genes, which cause molecular damage to cellular DNA repair mechanisms and hypersensitivity to UV radiation. As a result, there is accumulation of DNA damage due to UV that is not repaired causing cell death and accelerating skin aging and development of malignancy.

XP tends to cause some skin neoplasms at young age. Two important causes of death are skin malignancy which eventually metastasizes. This condition is caused by skin hypersensitivity due to ultraviolet. Another result of ultraviolet exposure is the possibility of degenerative and proliferative skin changes, including blackish skin spots, skin atrophy, poikiloderma, and actinic keratosis.

Xeroderma pigmentosum in 9-year-old boy

A nine-year-old boy came for treatment at the hospital outpatient unit, Dr. Soetomo Surabaya with complaints of black spots on the skin on the face, neck and body, since the age of nine months. Blackish spots first appeared on his face then spread to his neck, and both arms and legs.

Black spots become wider and worsen after exposure to sunlight, especially in areas of the body often exposed to sunlight such as face, hands and feet. The patient also complained of red and watery eyes for about a year and in the last two weeks the complaints were getting worse. On the neck there is a lump about 7 × 7 cm, reddish surface, accompanied by a discharge of blood, with unpleasant odor, and easily bleed when it was touched.

This disease is a disease due to genetic disorders, inbreeding is a factor that can cause this disease. This patient indicates a blood marriage between the father and mother of the patient, where the patient’s father and mother are cousins. On a general examination, the patient looked pale and underweight compared to his age. There is no abnormality in immunization history and birth history.

In addition to abnormalities in the skin, this child also has a disorder in his eyes, a decreasing vision function, and white tissue appeared and caused decreased visual acuity. Laboratory tests were performed to support the diagnosis. One of them was by checking the fluid from the patient’s eyes and looking under the microscope shows the presence of abnormal cells. Tissue examination was performed on lump in the neck and skin tissue.

The results of tissue examination taken from the neck lump indicated abnormal cells and was diagnosed as squamous cell carcinoma, one of the malignancies in the skin. Based on examination of the skin tissue, the results obtained are in accordance with XP, the therapy for such cases involved several multi-disciplines such as the pediatric oncology and ophthalmology.

Chemotherapy was decided to be given to the patient to reduce the size of the tumor or a lump in the neck. There is no specific therapy given for skin disorders in this patient. Providing moisturizers, avoiding sunlight, wearing sunscreen and protectors, are suggestions we can give to this patient. (*)

Author: Iskandar Zulkarnain

Details of this research available at: Bernadya Yogatri Anjuwita Saputri,Iskandar Zulkarnain. Xeroderma pigmentosum with ocular involvement and squamous cell carcinoma: a case report.Dermatology Report 2019;11(s1):8082. doi:10.4081/dr.2019.8082

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