{{위키데이터 속성 추적}}
{{infobox medical condition (new)
| name            = 색소성 건피증
| synonyms        = Xeroderma pigmentosum, DeSanctis-Cacchione syndrome<ref name="GHR2018">{{웹 인용|title=Xeroderma pigmentosum |url=https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum# | website = Genetics Home Reference | publisher = U.S. Library of Medicine |date=26 June 2018 |access-date=28 June 2018  }}</ref>
| image           = Xeroderma pigmentosum 02.jpg
| caption         = [[과테말라]]의 8살 소녀가 색소성 건피증에 시달리고 있다.<ref name="ReferenceA">{{저널 인용 | last1 = Halpern | first1 = J. | last2 = Hopping | first2 = B. | last3 = Brostoff | first3 = J.| title = Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country| journal = Cases journal| volume = 1| issue = 1| pages = 254| year = 2008| pmid = 18937855| doi = 10.1186/1757-1626-1-254| pmc = 2577106}}</ref>
| symptoms        = 태양에 단지 수분 간 노출 후 심각한 [[일광화상]], 태양 노출 부위의 [[주근깨]], 피부 건조증, 피부 색소 변화<ref name=GHR2018/>
| complications   = [[피부암]], [[뇌종양]], [[백내장]]<ref name=GHR2018/>
| onset           = 
| duration        = 
| types           = 
| causes          = [[유전성 질환]] ([[상염색체 열성]])<ref name=GHR2018/>
| risks           = 
| diagnosis       = 증상에 따라, [[유전자 검사]]의 확인에 따라<ref name="NORD2017">{{웹 인용|title=Xeroderma Pigmentosum |url=https://rarediseases.org/rare-diseases/xeroderma-pigmentosum/ |website=NORD (National Organization for Rare Disorders) |access-date=28 June 2018 |date=2017}}</ref>
| differential    = [[털유황이상증]], [[코케인 증후군]], [[COFS 증후군]], [[적혈구형성프로토포르피린증]]<ref name="GARD2018">{{웹 인용|title=Xeroderma pigmentosum|url=https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum | website = Genetic and Rare Diseases Information Center (GARD) | publisher = U.S. Department of Health and Human Services |access-date=28 June 2018 |date=2018}}</ref>
| prevention      = 
| treatment       = 태양 회피, [[레티노이드 크림]], [[비타민 D]]<ref name=NORD2017/><ref name=GARD2018/>
| medication      = 
| prognosis       = [[평균 수명]]이 약 30년까지 단축됨<ref name="Ah2008">{{서적 인용|last1=Ahmad |first1=Shamim |last2=Hanaoka |first2=Fumio | name-list-format = vanc |title=Molecular Mechanisms of Xeroderma Pigmentosum |date=2008 |publisher=Springer Science & Business Media |isbn=9780387095998 |page=17 |url=https://books.google.co.uk/books?id=_MPMriGtLbIC&pg=PA17 |language=en}}</ref>
| frequency       = 1명 / 250,000명 (미국)<ref name="Leh2011">{{저널 인용| vauthors = Lehmann AR, McGibbon D, Stefanini M | title = Xeroderma pigmentosum | journal = Orphanet Journal of Rare Diseases | volume = 6 | issue =  | pages = 70 | date = November 2011 | pmid = 22044607 | pmc = 3221642 | doi = 10.1186/1750-1172-6-70 }}</ref>
| deaths          = 
}}
'''색소성 건피증'''(色素性乾皮症, xeroderma pigmentosum)은 [[DNA 수선]]의 희귀 [[상염색체]] 열성 [[유전병]]으로, [[자외선]]에 의한 상해를 치료하는 능력이 결핍되는 질병이다.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|574}}

== 진단 ==
=== 유형 ===
7가지 그룹의 유형이 있다:
{| class="wikitable"
| '''유형''' || '''[[질병 데이터베이스]]''' ||  '''[[OMIM]]'''  ||   '''유전자 '''   || '''[[:en:Locus (genetics)|Locus]]'''  || '''설명'''
 |-
 |타입 A, I, XPA||{{질병DB2|29877}}  || {{OMIM2|278700}} || [[XPA]]   || 9q22.3  ||  '''Xeroderma pigmentosum group A''' - XP의 전형적인 형태
 |-
 |타입 B, II, XPB|| {{질병DB2|29878}} ||  {{OMIM2|133510}} || [[XPB]]    ||2q21|| '''Xeroderma pigmentosum group B'''
 |-
 |타입 C, III, XPC|| {{질병DB2|29879}} || {{OMIM2|278720}} ||  [[XPC (gene)|XPC]]   ||3p25||  '''Xeroderma pigmentosum group C'''
 |-
 |타입 D, IV, XPD|| {{질병DB2|29880}} || {{OMIM2|278730}} {{OMIM2|278800}} || [[ERCC2|XPD]] [[ERCC6]] || 19q13.2-q13.3, 10q11 ||  '''Xeroderma pigmentosum group D''' 또는 '''De Sanctis-Cacchione syndrome''' (XPD의 아형으로 간주할 수 있음)
 |-
 |타입 E, V, XPE||  {{질병DB2|29881}} ||  {{OMIM2|278740}} || [[DDB2]] || 11p12-p11 || '''Xeroderma pigmentosum group E'''
 |-
 |타입 F, VI, XPF|| {{질병DB2|29882}} || {{OMIM2|278760}} || [[ERCC4]]    || 16p13.3-p13.13 || '''Xeroderma pigmentosum group F'''
 |-
 |타입 G, VII, XPG|| {{질병DB2|29883}} ||  {{OMIM2|278780}} {{OMIM2|133530}} || [[RAD2]] [[ERCC5]] || 13q33  || '''Xeroderma pigmentosum group G''' 및 COFS 증후군 타입 3
 |-
 |타입 V, XPV || || {{OMIM2|278750}} || [[POLH]] || 6p21.1-p12 || '''Xeroderma pigmentosum variant'''
|}

== 같이 보기 ==
* [[노인학]]
* [[눈부심]]

== 각주 ==
{{각주}}

== 외부 링크 ==
{{Medical resources
| DiseasesDB     = 14198
| ICD10          = {{ICD10|Q|82|1|q|80}}
| ICD9           = {{ICD9|757.33}}
| OMIM           =278700
| MedlinePlus    = 001467
| eMedicineSubj  = derm
| eMedicineTopic = 462
| eMedicine_mult = {{eMedicine2|neuro|399}}
| MeshID         = D014983
| GeneReviewsName=Xeroderma Pigmentosum
| GeneReviewsNBK=NBK1397
| Orphanet=910
}}
{{위키공용분류}}
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xp GeneReviews/NCBI/NIH/UW entry on xeroderma pigmentosum]
* [http://digilander.iol.it/camdic/XERODERMA%20PIGMENTOSUM.html An article about this disorder] from DigiLander.iol.it (in English and Italian)
* [http://www.cancer.net/cancer-types/xeroderma-pigmentosum Cancer.Net Xeroderma Pigmentosum]

{{전거 통제}}

[[분류:희귀질환]]
[[분류:조로증]]
[[분류:상염색체 열성 질환]]
[[분류:유전성 피부 질환]]