Xeroderma pigmentosum

Last updated
Xeroderma pigmentosum
Other names DeSanctis-Cacchione syndrome [1] [2]

XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7 [3]

Xeroderma pigmentosum I/II/III/IV/V/VI/VII [3]

Xeroderma pigmentosum complementation group A/B/C/D/E/F/G [3]

xeroderma pigmentosum group A/B/C/D/E/F/G

Contents

[3]
Xeroderma pigmentosum 02.jpg
An eight-year-old girl from Guatemala with xeroderma pigmentosum [4]
Specialty Medical genetics
Symptoms Severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin, changes in skin pigmentation [1]
Complications Skin cancer, brain cancer, cataracts [1]
Usual onsetBecomes visible ~6 months of age [2]
DurationLifelong
Causes Genetic disorder (autosomal recessive) [1]
Diagnostic method Based on symptoms and confirmed by genetic testing [5]
Differential diagnosis Trichothiodystrophy, Cockayne syndrome, cerebrooculofacioskeletal syndrome, erythropoietic protoporphyria [6]
PreventionNo cure available
TreatmentCompletely avoiding sun or UV rays, retinoid creams, vitamin D [5] [6]
Prognosis Life expectancy is shortened by about 30 years. [7]
Frequency• 1 in 100,000 (worldwide) [3]

• 1 in 370 (India) [ citation needed ]

• 1 in 22,000 (Japan) [3]

• 1 in 250,000 (US) [8]

• 1 in 430,000 (Europe)

• 1 in 1,000,000 (UK) [3]

Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. [1] Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. [1] Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur. [1] Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. [1] There may be a higher risk of other cancers such as brain cancers. [1]

XP is autosomal recessive, with mutations in at least nine specific genes able to result in the condition. [1] [6] Normally, the damage to DNA which occurs in skin cells from exposure to UV light is repaired by nucleotide excision repair. [1] In people with xeroderma pigmentosum, this damage is not repaired. [1] As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. [1] Diagnosis is typically suspected based on symptoms and confirmed by genetic testing. [5]

There is no cure for XP. [6] Treatment involves completely avoiding the sun. [6] This includes protective clothing, sunscreen and dark sunglasses when out in the sun. [6] Retinoid creams may help decrease the risk of skin cancer. [6] Vitamin D supplementation is generally required. [5] If skin cancer occurs, it is treated in the usual way. [6] The life expectancy of those with the condition is about 30 years less than normal. [7]

The disease affects about 1 in 100,000 worldwide. [3] By region, it affects about 1 in 370 in India, 1 in 20,000 in Japan, 1 in 250,000 people in the United States and 1 in 430,000 in Europe. [8] It occurs equally commonly in males and females. [9] Xeroderma pigmentosum was first described in the 1870s by Moritz Kaposi. [5] [9] In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. [9] Individuals with the disease have been referred to as "children of the night" or "moon children". [10]

Signs and symptoms

Child with xeroderma pigmentosum in Nepal Child suffering from Xeroderma Pigmentosum in Rukum,Nepal.jpg
Child with xeroderma pigmentosum in Nepal
Girl with xeroderma pigmentosum showing epitheliomas on the eyelid and mouth Sequeira Plate 3.jpg
Girl with xeroderma pigmentosum showing epitheliomas on the eyelid and mouth

Signs and symptoms of xeroderma pigmentosum may include:[ citation needed ]

Genetics

Xeroderma pigmentosum has an autosomal recessive pattern of inheritance. Autorecessive.svg
Xeroderma pigmentosum has an autosomal recessive pattern of inheritance.

One of the most frequent defects in xeroderma pigmentosum is an autosomal recessive genetic defect in which nucleotide excision repair (NER) enzymes are mutated, leading to a reduction in or elimination of NER. [11] If left unchecked, damage caused by ultraviolet light can cause mutations in individual cell's DNA. The causes of the neurological abnormalities are poorly understood and are not connected with exposure to ultraviolet light. The most current theories suggest that oxidative DNA damage is generated during normal metabolism in the central nervous system, and that some types of this damage must be repaired by NER. [12]

Since DNA repair is under genetic control, it can mutate. Many genetic disorders such as xeroderma pigmentosum (XP; MIM 278700) are caused by mutations in genes that repair damaged DNA. XP affects the mechanism that repairs UV damage in skin cell DNA. Those affected with the autosomal recessive disorder XP are extremely sensitive to UV light produced by the sun and develop pigmented spots, tumors, and skin cancer with minimal exposure. Individuals with XP are about 1,000 times more likely to develop skin cancer than individuals without the disorder.[ citation needed ]

The molecular defects in XP cells result in a greatly elevated induction of mutations in sun-exposed skin of affected individuals. This increased mutation frequency probably accounts for the pigmentation changes and the skin cancers. Examination of mutations in the p53 gene in tumors from XP patients reveal p53 mutations characteristic of UV exposure in the majority of tumors [13] As with all genetic disorders, genetic counseling and psychological support is appropriate for the families to discuss probability of occurrence in future pregnancies, feelings of isolation and concern about career prospects. There is no cure for xeroderma pigmentosum. The most common fate for individuals with XP is early death from cancer. [ citation needed ]

XP repair proteins

The XPA protein acts during NER as a scaffold for assembly of other DNA repair proteins at sites of DNA damage to ensure appropriate excision of the damage. [14]

The XPB (ERCC3) protein is employed in unwinding the DNA double helix after DNA damage is initially recognized. Mutations in the XPB(ERCC3) gene can lead to XP or XP combined with Cockayne syndrome. [15]

The XPC protein forms a complex with RAD23B protein to form the initial damage recognition factor in global genomic nucleotide excision repair (GG-NER). [16] This complex recognizes a wide variety of damages that thermodynamically destabilize DNA duplexes.[ citation needed ]

The XPD (ERCC2) protein, in combination with the XPB helicase-containing transcription/repair complex TFIIH, is employed in unwinding the DNA duplex after damage is initially recognized. Mutations in the XPD(ERCC2) gene cause a variety of syndromes; XP, trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS). [17] [18] Both trichothiodystrophy and Cockayne syndrome display features of premature aging, suggesting an association between deficient DNA repair and premature aging .[ citation needed ]

XPE is a heterodimeric protein composed of two subunits. The larger subunit DDB1 primarily functions as a core component of CUL4A- and CUL4B-based E3 ubiquitin ligase complexes. Substrates that are ubiquitinnated by these complexes include proteins employed in DNA repair. [19]

The XPF (ERCC4) protein together with the ERCC1 protein forms a complex usually designated ERCC1-XPF. This complex separates the DNA helix for a short distance on either side of the site of damage. It then acts as an endonuclease to incise the damaged DNA strand on the 5' side of the damaged site. [20] Mutant cells with deficient ERCC1-XPF are not only defective in NER, but also in the repair of double-strand breaks and inter-strand crosslinks.[ citation needed ]

The XPG protein is an endonuclease that incises DNA during NER at the 3' side of the damaged nucleotide. Mutations in the XPG (ERCC5) gene can lead to XP alone, or in combination with Cockayne syndrome (CS), or in combination with infantile lethal cerebro-oculo-facio-skeletal syndrome. [21]

Diagnosis

Types

There are seven complementation groups, plus one variant form:

Type Diseases Database OMIM Gene Locus Also known as / description
Type A, I, XPA 29877 278700 XPA 9q22.3Xeroderma pigmentosum group A - the classical form of XP
Type B, II, XPB 29878 133510 XPB 2q21Xeroderma pigmentosum group B
Type C, III, XPC 29879 278720 XPC 3p25Xeroderma pigmentosum group C
Type D, IV, XPD 29880 278730 278800 XPD ERCC6 19q13.2-q13.3, 10q11Xeroderma pigmentosum group D or De Sanctis-Cacchione syndrome (can be considered a subtype of XPD)
Type E, V, XPE 29881 278740 DDB2 11p12-p11Xeroderma pigmentosum group E
Type F, VI, XPF 29882 278760 ERCC4 16p13.3-p13.13Xeroderma pigmentosum group F
Type G, VII, XPG 29883 278780 133530 RAD2 ERCC5 13q33Xeroderma pigmentosum group G and COFS syndrome type 3
Type V, XPV 278750 POLH 6p21.1-p12Xeroderma pigmentosum variant - these patients have mutation in a gene that codes for a specialized DNA polymerase called polymerase-η (eta). Polymerase-η can replicate over the damage and is needed when cells enter S-phase in the presence of a DNA-replication.

Treatment

Child in UV-protective clothing during initial stages of XP XP Child in UV-protective Clothing.jpg
Child in UV-protective clothing during initial stages of XP

There is no cure for the disorder; all treatment is symptomatic or preventive. Symptoms can be avoided or controlled by completely avoiding exposure to sunlight, either by staying indoors or wearing protective clothing and using sunscreen when outdoors. [22] Keratosis can also be treated by using cryotherapy or fluorouracil. [4] In more severe cases of XP, even minuscule amounts of UV light, for example, from covered windows or fluorescent bulbs, can be very dangerous and trigger symptoms. [23]

On September 10, 2020, Clinuvel Pharmaceuticals announced that it was investigating the use of its FDA-approved flagship drug Scenesse as a potential treatment to increase pain-free light exposure for patients with xeroderma pigmentosum. [24] [25] [26]

Prognosis

In the United States, the probability for individuals with the disorder to survive until 40 years of age may be as high as 70% if they have never been exposed to sunlight in their life. [27]

If a person is diagnosed early, does not have severe neurological symptoms, and takes precautionary measures to completely avoid any exposure to UV light and sunlight, they may be able to survive until middle age.[ citation needed ]

History

Xeroderma pigmentosum was first described in 1874 by Hebra and Moritz Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin.[ citation needed ]

The 1968 paper about XP by James Cleaver demonstrated the link between UV-induced DNA damage, faulty DNA repair and cancer. [28]

Culture and society

Because people with XP need to strictly avoid sunlight, but can go outside at night, they have been called children of the dark, children of the night, and vampire children. These terms can be considered derogatory. [29]

XP has been a plot element in several fictional works. One of the common themes in films about XP is whether teens with XP will risk sun exposure in pursuit of a romantic partner. [30]

Film series like Children of Darkness , a German silent-drama film which was released in two parts in the year of 1921 and 1922 respectively, were among some of the initially popular movies that were made about XP.[ citation needed ]

Other films, like the 1964 American drama film Della , starring Joan Crawford, Paul Burke, Charles Bickford and Diane Baker, directed by Robert Gist, which was originally produced by Four Star Television as a television pilot for a proposed NBC series named Royal Bay, was also based on this skin disease.[ citation needed ]

The Dark Side of the Sun , a 1988 American-Yugoslavian drama film, was directed by Božidar Nikolić and stars Brad Pitt for his first ever leading role as a young man in search of a cure for his disorder.[ citation needed ]

The Others , a 2001 American psychological horror film starring Nicole Kidman, features two children, Anne and Nicholas, who must avoid all sunlight because of a rare disease characterized by photosensitivity.[ citation needed ]

A CBS television movie aired in 1994, Children of the Dark, was based on the story of the real-life couple Jim and Kim Harrison, whose two daughters have XP. [31] [32]

Lurlene McDaniel's young adult book How I Do Love Thee features the story "Night Vision", in which the protagonist, leukemia survivor Brett, falls in love with a girl named Shayla that has XP.[ citation needed ]

Christopher Snow, the protagonist of novelist Dean Koontz's Moonlight Bay Trilogy , has XP and therefore must live most of his life during the night. The first two entries of the trilogy, Fear Nothing and Seize the Night , were both published in 1998. The final entry in the trilogy, tentatively titled Ride the Storm , has yet to be published as of August 2020. [33] [34]

The 2011 French drama film The Moon Child is based on a 13-year-old child with XP, which prevents him from exposing himself to daylight.

The 2012 documentary Sun Kissed explores the XP problem on the Navajo Indian Reservation, and links it to the genetic legacy of the Long Walk of the Navajo, when the Navajo people were forced to move to a new location. [35] [36] [37]

The 2016 Vietnamese romance drama Khúc hát mặt trời , based on a 2006 Japanese film, A Song to the Sun , tells the story of a girl named Yến Phương with XP and the impact of her sickness on her life and relationships, following the story of Phương's accidental exposure to sunlight and subsequent neurological degeneration. [38]

Midnight Sun (2018 film) is a 2018 American romantic drama film based on the 2006 Japanese film A Song to the Sun. The film was directed by Scott Speer and written by Eric Kirsten, and stars Bella Thorne, Patrick Schwarzenegger, and Rob Riggle.[ citation needed ]

Research directions

Research into XP has had two main results: better understanding the disease itself, and also better understanding the normal biological mechanisms involved in DNA repair. [28] Research into XP has produced insights that have been translated into treatments and prevention for cancer. [28]

See also

Related Research Articles

<span class="mw-page-title-main">Cockayne syndrome</span> Medical condition

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological white matter. There are two primary types of Cockayne syndrome: Cockayne syndrome type A (CSA), arising from mutations in the ERCC8 gene, and Cockayne syndrome type B (CSB), resulting from mutations in the ERCC6 gene.

<span class="mw-page-title-main">Nucleotide excision repair</span> DNA repair mechanism

Nucleotide excision repair is a DNA repair mechanism. DNA damage occurs constantly because of chemicals, radiation and other mutagens. Three excision repair pathways exist to repair single stranded DNA damage: Nucleotide excision repair (NER), base excision repair (BER), and DNA mismatch repair (MMR). While the BER pathway can recognize specific non-bulky lesions in DNA, it can correct only damaged bases that are removed by specific glycosylases. Similarly, the MMR pathway only targets mismatched Watson-Crick base pairs.

<span class="mw-page-title-main">XPB</span> Mammalian protein found in Homo sapiens

XPB is an ATP-dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex.

A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.

Richard D. Wood is an American molecular biologist specializing in research on DNA repair and mutation. He is known for pioneering studies on nucleotide excision repair (NER), particularly for reconstituting the minimum set of proteins involved in this process, identifying proliferating cell nuclear antigen (PCNA) as part of the NER complex and identifying mammalian repair polymerases.

<span class="mw-page-title-main">ERCC2</span> Mammalian protein found in humans

TFIIH subunit XPD is a protein that in humans is encoded by the ERCC2 gene. It is a component of the general transcription and DNA repair factor IIH (TFIIH) core complex involved in transcription-coupled nucleotide excision repair.

Transcription factor II H (TFIIH) is an important protein complex, having roles in transcription of various protein-coding genes and DNA nucleotide excision repair (NER) pathways. TFIIH first came to light in 1989 when general transcription factor-δ or basic transcription factor 2 was characterized as an indispensable transcription factor in vitro. This factor was also isolated from yeast and finally named TFIIH in 1992.

<span class="mw-page-title-main">ERCC1</span> Protein-coding gene in the species Homo sapiens

DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ERCC1 gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.

<span class="mw-page-title-main">RAD23B</span> Protein-coding gene in the species Homo sapiens

UV excision repair protein RAD23 homolog B is a protein that in humans is encoded by the RAD23B gene.

The enzyme DNA-(apurinic or apyrimidinic site) lyase, also referred to as DNA-(apurinic or apyrimidinic site) 5'-phosphomonoester-lyase or DNA AP lyase catalyzes the cleavage of the C-O-P bond 3' from the apurinic or apyrimidinic site in DNA via β-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. In the 1970s, this class of enzyme was found to repair at apurinic or apyrimidinic DNA sites in E. coli and in mammalian cells. The major active enzyme of this class in bacteria, and specifically, E. coli is endonuclease type III. This enzyme is part of a family of lyases that cleave carbon-oxygen bonds.

<span class="mw-page-title-main">XPC (gene)</span> Protein-coding gene in the species Homo sapiens

Xeroderma pigmentosum, complementation group C, also known as XPC, is a protein which in humans is encoded by the XPC gene. XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair. It is located on chromosome 3.

<span class="mw-page-title-main">XPA</span> Protein-coding gene in the species Homo sapiens

DNA repair protein complementing XP-A cells is a protein that in humans is encoded by the XPA gene.

<span class="mw-page-title-main">ERCC6</span> Gene of the species Homo sapiens

DNA excision repair protein ERCC-6 is a protein that in humans is encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23.

<span class="mw-page-title-main">ERCC5</span> Protein-coding gene in the species Homo sapiens

DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.

<span class="mw-page-title-main">ERCC4</span> Protein-coding gene in the species Homo sapiens

ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.

<span class="mw-page-title-main">ERCC8</span> Protein-coding gene in humans

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

<span class="mw-page-title-main">Trichothiodystrophy</span> Medical condition

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.

<span class="mw-page-title-main">UV-sensitive syndrome</span> Medical condition

UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines. Recent research identified that mutations of the KIAA1530 (UVSSA) gene as cause for the development of UV-sensitive syndrome. Furthermore, this protein was identified as a new player in the Transcription-coupled repair (TC-NER).

Progeroid syndromes (PS) are a group of rare genetic disorders that mimic physiological aging, making affected individuals appear to be older than they are. The term progeroid syndrome does not necessarily imply progeria, which is a specific type of progeroid syndrome.

<span class="mw-page-title-main">Hereditary cancer syndrome</span> Inherited genetic condition that predisposes a person to cancer

A hereditary cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers. Hereditary cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors.

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