Een ‘milde’ vorm van xeroderma pigmentosum

Marjolijn S. Haisma; P. C. van den Akker; A. G. Schuurman; M. Geel; M. C. Bolling; M. J. Koldijk

Een ‘milde’ vorm van xeroderma pigmentosum

Marjolijn S. Haisma^*, P. C. van den Akker, A. G. Schuurman, M. Geel, M. C. Bolling, M. J. Koldijk

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic

Abstract

We present a 65-year old man with a relatively mild and late-onset form of XPD (resulting from two ERCC2-variants). XP is a rare, genetic disorder in the DNA repair mechanism, in which patients develop many and early skin malignancies. There are many different genetic and clinical variations of XP. Because of te relatively old age at presentation of the first skin malignancies (29 years), the diagnosis XP was recognized late. In patients with many skin malignancies but without the standard XP phenotype, it is important to consider a rare and mild form of XP.

Original language	Dutch
Pages (from-to)	40-42
Number of pages	3
Journal	Nederlands Tijdschrift voor Dermatologie en Venereologie
Volume	31
Issue number	6
Publication status	Published - 1 Jun 2021

Keywords

skin malignancies
xeroderma pigmentosum
XPD

Cite this

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title = "Een {\textquoteleft}milde{\textquoteright} vorm van xeroderma pigmentosum",

abstract = "We present a 65-year old man with a relatively mild and late-onset form of XPD (resulting from two ERCC2-variants). XP is a rare, genetic disorder in the DNA repair mechanism, in which patients develop many and early skin malignancies. There are many different genetic and clinical variations of XP. Because of te relatively old age at presentation of the first skin malignancies (29 years), the diagnosis XP was recognized late. In patients with many skin malignancies but without the standard XP phenotype, it is important to consider a rare and mild form of XP.",

keywords = "skin malignancies, xeroderma pigmentosum, XPD",

author = "Haisma, {Marjolijn S.} and {van den Akker}, {P. C.} and Schuurman, {A. G.} and M. Geel and Bolling, {M. C.} and Koldijk, {M. J.}",

year = "2021",

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TY - JOUR

T1 - Een ‘milde’ vorm van xeroderma pigmentosum

AU - Haisma, Marjolijn S.

AU - van den Akker, P. C.

AU - Schuurman, A. G.

AU - Geel, M.

AU - Bolling, M. C.

AU - Koldijk, M. J.

PY - 2021/6/1

Y1 - 2021/6/1

N2 - We present a 65-year old man with a relatively mild and late-onset form of XPD (resulting from two ERCC2-variants). XP is a rare, genetic disorder in the DNA repair mechanism, in which patients develop many and early skin malignancies. There are many different genetic and clinical variations of XP. Because of te relatively old age at presentation of the first skin malignancies (29 years), the diagnosis XP was recognized late. In patients with many skin malignancies but without the standard XP phenotype, it is important to consider a rare and mild form of XP.

AB - We present a 65-year old man with a relatively mild and late-onset form of XPD (resulting from two ERCC2-variants). XP is a rare, genetic disorder in the DNA repair mechanism, in which patients develop many and early skin malignancies. There are many different genetic and clinical variations of XP. Because of te relatively old age at presentation of the first skin malignancies (29 years), the diagnosis XP was recognized late. In patients with many skin malignancies but without the standard XP phenotype, it is important to consider a rare and mild form of XP.

KW - skin malignancies

KW - xeroderma pigmentosum

KW - XPD

M3 - Article

SN - 0925-8604

VL - 31

SP - 40

EP - 42

JO - Nederlands Tijdschrift voor Dermatologie en Venereologie

JF - Nederlands Tijdschrift voor Dermatologie en Venereologie

IS - 6

ER -