Xeroderma pigmentosum

Classification according to ICD-10
Q82.1	Xeroderma pigmentosum
ICD-10 online (WHO version 2019)

An eight year old girl from Guatemala with xeroderma pigmentosum . The close-up shows scarring of the cornea, ulcerations and hyperkeratosis caused by the disease .

Same patient. This image shows hyperkeratotic lesions with conspicuous hardening due to actinic keratosis as well as an early stage of squamous cell carcinoma .

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Xeroderma pigmentosum (or synonym melanosis lenticularis progressiva , also moonlight disease or light shrinkage skin , "XP" for short) is a skin disease that is based on a genetic defect and can be assigned to the chromosome break syndrome . It is a very rare disease; the frequency varies from region to region between 1: 40,000 ( Japan ) and 1: 250,000 ( USA ); In the USA there are around 250 people with documented XP, in Germany around 80, most of them children. The life expectancy of these patients is short if untreated; they usually die in the first decade of life.

Since those affected have to avoid sunlight and the majority are children, the colloquial term moon (shine) children exists for those affected.

causes

Due to a genetic, autosomal recessive inherited defect that affects DNA repair enzymes , the skin cannot regenerate after damage from sun exposure.

classification

The disease is divided into seven different types, depending on the location of the gene defect:

• Type A, I, XPA , synonym: Xeroderma pigmentosum A; Classic shape , mutations in XPA - gene in chromosome 9 locus q22.3
• Type B, II, XPB , synonym: Xeroderma pigmentosum B , mutations in the XPB gene in chromosome 2 locus q21
• Type C, III, XPC , synonym: Xeroderma pigmentosum C , mutations in the XPC gene in chromosome 3 locus p25
• Type D, IV, XPD , synonym: Xeroderma pigmentosum D; DeSanctis-Cacchione syndrome , mutations in the XPD gene in chromosome 19 locus q13.2-q13-3 or in the ERCC6 gene in chromosome 10 locus q11
• Type E, V, XPE , synonym: Xeroderma pigmentosum E , mutations in the DDB2 gene in chromosome 11 locus p12-p11
• Type F, VI, XPF , synonym: Xeroderma pigmentosum F , mutations in the ERCC4 gene in chromosome 16 locus p13.3-p13.13
• Type G, VII, XPG , synonym: Xeroderma pigmentosum G; COFS syndrome type 3 , mutations in the RAD2 or ERCC5 gene in chromosome 13 locus q33
• Type V, XPV , synonym: Xeroderma pigmentosum variant , mutations in the POLH gene in chromosome 6 locus p21.1-p12

Types A, B, D and G are associated with neurological disorders.

Symptoms and ailments

When UV rays hit the patient's skin, inflammation forms first, and later wart-like structures that can develop into malignant forms of skin cancer . The areas of the skin that are usually exposed to sunlight, such as the face, eyes and arms, are particularly affected. The disease greatly increases the risk of skin cancer for those affected.

If the disease is not correctly diagnosed at an early stage after the first symptoms ( inflammation of the skin areas that are exposed to the sun ), it quickly leads to malignant and / or benign skin tumors ( such as basalioma , keratoacanthoma , malignant melanoma or sarcoma ) and subsequently to death .

Complications

Avoiding UV radiation leads to a shift in the day-night rhythm and can lead to social isolation. In the USA there are initial offers for this group of patients for joint holiday camps, which are intended to counteract social isolation.

Treatments

Patients must be consistently shielded from all UV radiation; for example through long clothing, tinted window panes or UV-repellent plastic film on the windows. In 1999, NASA introduced protective suits to shield those affected from harmful environmental influences . They are made of the same material as the astronauts' spacesuits and protect against the sun's rays, which in this case are life-threatening.

Dermatologists are testing the acne drug isotretinoin and various creams made from bacterial protein.

So far, xeroderma pigmentosum cannot be cured. It is important to recognize the disease early in order to then start immediately with a systematic treatment of the symptoms and complaints. The life expectancy of the patient is very individual and depends on several factors. On average it is 30 years. However, there are also documented cases in which the sixth decade of life was reached.

See also

• Precancerous disease

• The German director Manuela Stacke addressed the disease in 2006 in her film Mondscheinkinder .
• The disease is also the subject of the Japanese film Taiyō no Uta, with Yui in the lead role.
• The disease is also the subject of the film Dark Side of the Sun with Brad Pitt .
• The disease is also the subject of the film Midnight Sun - Everything for you with Bella Thorne and Patrick Schwarzenegger .

Individual evidence

1. ^ AR Lehmann, D. McGibbon, M. Stefanini: Xeroderma pigmentosum. In: Orphanet Journal of Rare Diseases. Volume 6, November 2011, p. 70, doi : 10.1186 / 1750-1172-6-70 , PMID 22044607 , PMC 3221642 (free full text) (review).
2. ↑ Xeroderma pigmentosum. In: Orphanet (Rare Disease Database).
3. ↑ XPA.  In: Online Mendelian Inheritance in Man . (English)
4. ↑ XPB.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ XPC.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ XPD.  In: Online Mendelian Inheritance in Man . (English)
7. ^ De Sanctis-Cacchione syndrome.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ XPE.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ XPF.  In: Online Mendelian Inheritance in Man . (English)
10. ↑ XPG.  In: Online Mendelian Inheritance in Man . (English)
11. ↑ XPV.  In: Online Mendelian Inheritance in Man . (English)
12. ^ NASA - Two Special Girls Use NASA Spacesuit Technology to Finally Have Their Day in the Sun. Accessed August 11, 2019 . 

further reading

• A. Amin, M. Bassiouny, K. Sallam, G. Ghally, H. El-Karaksy, A. El-Haddad: Living related hemi-face skin transplant using radial forearm free flap for a xeroderma pigmentosa patient: early outcome. In: Head & neck oncology Volume 2, 2010, p. 18, ISSN  1758-3284 . doi: 10.1186 / 1758-3284-2-18 . PMID 20626898 . PMC 2908605 (free full text).
• JL Goyal, VA Rao, R. Srinivasan, K. Agrawal: Oculocutaneous manifestations in xeroderma pigmentosa. In: The British journal of ophthalmology Volume 78, Number 4, April 1994, pp. 295-297, ISSN  0007-1161 . PMID 8199117 . PMC 504766 (free full text). (Review).

Web links

Commons : Xeroderma pigmentosum  - collection of images, videos and audio files

• German site with information
• [1] - Documentary film with German subtitles about the moonlight children of Camp Sunshine

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !