Xeroderma pigmentosum
Last Updated: 2020-11-23
ICD11: LD27.1
Last Updated: 2020-11-23
Author(s): Anzengruber F., Navarini A.
ICD11: LD27.1
Kaposi 1874.
Moonshine disease, XP, Atrophodermia pigmentosa (Crocker), light shrinking skin, Lioderma essentialis congenita (Auspitz).
An autosomal recessive inherited genodermatosis, in which a disruption of the nucleotide excision repair system leads to the development of multiple tumors, premature aging, neurological and ocular diseases.
The parents of XP patients are obligatory mutation carriers in one of the XP genes.
Occurs already in childhood, first manifestation between ½ - 1 ½ years
Women = men
Tumors can show up as early as the second year of life.
7 complementation groups A-G and XP variant (V)
Defect of excision repair cross-complementing 2 gene repair-cross-complementing-4-gene à defect of the endonuclease detection of damaged DNA disturbedXP-G13q33defect of the endonuclease detection of damaged DNA disturbedXP-V6p21defect of the DNA polymerase ƐDefekt post-replication repair of DNA damage
Repair proteins |
Gene locus |
Malfunction | Function |
XP-A | 9q22 |
DNA damage binding protein 1 |
Detection of damaged DNA disturbed |
XP-B | 2q21 | Defect of the excision repair cross-complementing 3 gene | Defective helicase |
XP-C | 3p25 |
Defect of endonucleases |
Detection of damaged DNA disturbed |
XP-D | 19q13 |
Defect of the excision repair cross-complementing 2 gene |
Defective helicase |
XP-E | 11p12 |
Defect of DNA-damage binding protein 2 |
Detection of damaged DNA disturbed |
XP-F | 16ß13 |
Defect of the excision repair cross-complementing 4 gene; a defect of endonuclease |
Detection of damaged DNA disturbed |
XP-G | 13q33 |
Defect of the endonuclease |
Detection of damaged DNA disturbed |
XP-V | 6p21 |
Defect of the DNA polymerase Ɛ |
Defective post-replication repair of DNA damage |
Dwarfism
Severe mental retardation
Dermatological symptoms ↑↑↑
In most cases, the development of spinocellular carcinomas occurs
Neurological symptoms ↑↑
Ocular symptoms ↑↑
Dermatological symptoms ↑↑↑
In most cases, the development of basal cell carcinomas and spinocellular carcinomas occurs
Neurological symptoms ↑
Ocular symptoms ↑↑
Dermatological symptoms ↑
In most cases, the development of basal cell carcinomas and spinocellular carcinomas occurs
Neurological symptoms ↑
Ocular symptoms -
Dermatological symptoms ↑
In most cases, malignant melanomas are present
Ocular symptoms ↑
Dermatological symptoms ↑
In most cases, basal cell carcinomas are present
Neurological symptoms -
Ocular symptoms -
Dermatological symptoms ↑↑
In most cases, basal cell carcinomas and spinocellular carcinomas are present
Neurological symptoms ↑
Ocular symptoms -
Dermatological symptoms ↑↑
In most cases, basal cell carcinomas and spinocellular carcinomas are present
Neurological symptoms ↑
Ocular symptoms -
In most cases, basal cell carcinomas are present
Neurological symptoms -
Ocular symptoms -
UV sensitivity (sunburns)
Clinical diagnosis
Detection of the absence of an endonuclease in fibroblast culture
Measurement of fibroblast survival post-UV exposure
Measurement of DNA repair capacity
Prenatal diagnosis in specialized laboratories
Particularly in sun-exposed areas.
Solar elastosis
Changes according to actinic keratoses, BCC, SCC and MM (in XP-D)
Acitretin (Neotigasone®) p.o.
Surgical measures
Therapy of 1st choice by Lebwohl |
Evidence level |
|
UV protection | C | |
Excision of cutaneous neoplasia |
C | |
Therapy of 2nd choice by Lebwohl | ||
Imiquimod (topical) | B | |
5-Fluorouracil | B | |
Oral Retinoids | C | |
Therapy of 3rd choice by Lebwohl |
||
Resurfacing/dermabrasion/chemical peels |
E |
· UV protection (risk of skin cancer is 1000 times higher)
· Genetic counseling
· Psychological care
· No nicotine consumption (the pulmonary immunological repair mechanisms are also disturbed here)
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