Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).



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Narrow down the case reports



Total: 271 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(42.2%)		 10530743
 Otorhinolaryngological aspects of Xeroderma pigmentosum.
Kutluhan A, Bekerecioglu M, Guney E, Metin A.
Auris Nasus Larynx. 1999;26(4):457-66.
Sinusitis Rhinitis
Adult Child, Preschool Females Follow-Up Studies Homo sapiens Male Rhinitis Sinusitis Skin Neoplasms Xeroderma Pigmentosum
2
(41.6%)		 24558564
(3917633)
 Xeroderma Pigmentosum - A case report with oral implications.
Lopes-Cardoso C, Paes da Silva Ramos Fernandes LM, Ferreira-Rocha J, Teixeira-Soares C, Antonio-Barreto J, Humberto-Damante J.
J Clin Exp Dent. 2012;4(4):e248-51.
Scarring Cheilitis
3
(40.9%)		 18637129
(2605190)
 Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH.
Exp Dermatol. 2009;18(1):64-8.
Conjunctivitis Pterygium
ERCC2
c|DEL|2009|G c|SUB|C|2047|T;RS#:41556519 p|FS|G|670|A|39 p|SUB|R|683|W;RS#:41556519
DNA Mutational Analysis DNA Repair Fibroblasts Gene Deletion Homo sapiens Male Mutation Phenotype Skin Skin Neoplasms Sunlight Ultraviolet Rays Xeroderma Pigmentosum
4
(39.8%)		 23601806
(3702678)
 Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.
Ophthalmology. 2013;120(7):1324-36.
Blepharitis Corneal scarring
Adult Child Child, Preschool Cockayne Syndrome DNA DNA Repair Females Follow-Up Studies Homo sapiens Infant Male Middle Aged Retrospective Studies Sunlight Trichothiodystrophy Syndromes Ultraviolet Rays Visual Acuity Xeroderma Pigmentosum Young Adult
5
(39.0%)		 28491977
(5418870)
 De Sanctis-Cacchione syndrome: A case report and literature review.
Rahbar Z, Naraghi M.
Int J Womens Dermatol. 2015;1(3):136-139.
Microcephaly
5
(39.0%)		 28255305
(5309409)
 Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
Uribe-Bojanini E, Hernandez-Quiceno S, Cock-Rada AM.
Case Rep Med. 2017;2017:7162737.
Microcephaly
c|SUB|A|547|T
5
(39.0%)		 27396511
 Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Kondo D, Noguchi A, Tamura H, Tsuchida S, Takahashi I, Kubota H, Yano T, Oyama C, Sawaishi Y, Moriwaki S, Takahashi T.
Tohoku J Exp Med. 2016;239(3):231-5.
Microcephaly
c|SUB|C|1846|G c|SUB|G|139|A p|SUB|G|47|R p|SUB|R|616|G
8-Hydroxy-2'-Deoxyguanosine Age of Onset Base Sequence Child Cockayne Syndrome DNA Mutational Analysis DNA Repair Deoxyguanosine Fatal Outcome Homo sapiens Infant Japan Kidney Male Nephrotic Syndrome Xeroderma Pigmentosum
5
(39.0%)		 24474111
(3900353)
 De Sanctis-Cacchione syndrome in a female infant--case report.
Caldas AL, Rodrigues MM.
An Bras Dermatol. 2013;88(6):979-81.
Microcephaly
Dwarfism Females Homo sapiens Hypogonadism Infant Intellectual Disability Rare Diseases Skin Skin Neoplasms Xeroderma Pigmentosum
5
(39.0%)		 24252196
(3776212)
 The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH.
Acta Neuropathol Commun. 2013;1:4.
Thickened calvaria
ERCC2 XPA XPC
rs376556895
Adult Brain Cachexia DNA Repair Females Homo sapiens Magnetic Resonance Imaging Middle Aged Nerve Degeneration Skin Neoplasms X-Ray Computed Tomography Xeroderma Pigmentosum
5
(39.0%)		 16476302
 [De Sanctis-Cacchione syndrome].
Roson E, Garcia-Doval I, de la Torre C, Feal C, Cruces M.
Actas Dermosifiliogr. 2005;96(9):586-8.
Microcephaly
Child, Preschool Gonadal Disorders Growth Disorders Homo sapiens Intellectual Disability Male Photosensitivity Disorders Syndrome Xeroderma Pigmentosum
        

Phenotype(s) retrieved from Orphanet

    Total: 59

HPO ID Term Frequency
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000524 Conjunctival telangiectasia Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000958 Dry skin Very frequent (99-80%)
HP:0000963 Thin skin Very frequent (99-80%)
HP:0000992 Cutaneous photosensitivity Very frequent (99-80%)
HP:0001009 Telangiectasia Very frequent (99-80%)
HP:0001029 Poikiloderma Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001480 Freckling Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001945 Fever Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0006887 Intellectual disability, progressive Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0100585 Telangiectasia of the skin Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000491 Keratitis Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000962 Hyperkeratosis Frequent (79-30%)
HP:0001034 Hypermelanotic macule Frequent (79-30%)
HP:0001053 Hypopigmented skin patches Frequent (79-30%)
HP:0002861 Melanoma Frequent (79-30%)
HP:0004334 Dermal atrophy Frequent (79-30%)
HP:0010783 Erythema Frequent (79-30%)
HP:0012733 Macule Frequent (79-30%)
HP:0012740 Papilloma Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000498 Blepharitis Occasional (29-5%)
HP:0000613 Photophobia Occasional (29-5%)
HP:0000621 Entropion Occasional (29-5%)
HP:0000656 Ectropion Occasional (29-5%)
HP:0000995 Melanocytic nevus Occasional (29-5%)
HP:0001059 Pterygium Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001257 Spasticity Occasional (29-5%)
HP:0001315 Reduced tendon reflexes Occasional (29-5%)
HP:0001596 Alopecia Occasional (29-5%)
HP:0002071 Abnormality of extrapyramidal motor function Occasional (29-5%)
HP:0002120 Cerebral cortical atrophy Occasional (29-5%)
HP:0002664 Neoplasm Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0003355 Aminoaciduria Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0004493 Craniofacial hyperostosis Occasional (29-5%)
HP:0007759 Opacification of the corneal stroma Occasional (29-5%)
HP:0008734 Decreased testicular size Occasional (29-5%)
HP:0009755 Ankyloblepharon Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0010649 Flat nasal alae Occasional (29-5%)
HP:0100012 Neoplasm of the eye Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 68

HPO ID Term # of case reports
HP:0002860 Squamous cell carcinoma 30
HP:0002861 Melanoma 21
HP:0002671 Basal cell carcinoma 20
HP:0030731 Carcinoma 10
HP:0002664 Neoplasm 9
HP:0001480 Freckling 6
HP:0003764 Nevus 5
HP:0009830 Peripheral neuropathy 5
HP:0000613 Photophobia 4
HP:0001022 Albinism 4
HP:0001251 Ataxia 3
HP:0025511 Nevus sebaceus 3
HP:0031525 Keratoacanthoma 3
HP:0000135 Hypogonadism 2
HP:0000969 Edema 2
HP:0001059 Pterygium 2
HP:0002059 Cerebral atrophy 2
HP:0002072 Chorea 2
HP:0002180 Neurodegeneration 2
HP:0004322 Short stature 2
HP:0006739 Squamous cell carcinoma of the skin 2
HP:0008069 Neoplasm of the skin 2
HP:0010783 Erythema 2
HP:0012049 Laryngeal dystonia 2
HP:0100825 Cheilitis 2
HP:0000141 Amenorrhea 1
HP:0000147 Polycystic ovaries 1
HP:0000252 Microcephaly 1
HP:0000518 Cataract 1
HP:0000563 Keratoconus 1
HP:0000602 Ophthalmoplegia 1
HP:0000717 Autism 1
HP:0000726 Dementia 1
HP:0000992 Cutaneous photosensitivity 1
HP:0001007 Hirsutism 1
HP:0001029 Poikiloderma 1
HP:0001250 Seizures 1
HP:0001257 Spasticity 1
HP:0001289 Confusion 1
HP:0001605 Vocal cord paralysis 1
HP:0002090 Pneumonia 1
HP:0002094 Dyspnea 1
HP:0002120 Cerebral cortical atrophy 1
HP:0002527 Falls 1
HP:0002542 Olivopontocerebellar atrophy 1
HP:0002617 Dilatation 1
HP:0002721 Immunodeficiency 1
HP:0002748 Rickets 1
HP:0004326 Cachexia 1
HP:0005348 Inspiratory stridor 1
HP:0005387 Combined immunodeficiency 1
HP:0006511 Laryngeal stridor 1
HP:0007606 Multiple cutaneous malignancies 1
HP:0007957 Corneal opacity 1
HP:0011175 Versive seizures 1
HP:0011675 Arrhythmia 1
HP:0012277 Hypoglycinemia 1
HP:0012344 Morphea 1
HP:0012804 Corneal ulceration 1
HP:0025356 Psychomotor retardation 1
HP:0030060 Nervous tissue neoplasm 1
HP:0030413 Squamous cell carcinoma of the tongue 1
HP:0032060 Epithelioid hemangioma 1
HP:0032107 Limbal stem cell deficiency 1
HP:0032252 Granuloma 1
HP:0100008 Schwannoma 1
HP:0100242 Sarcoma 1
HP:0200034 Papule 1


Causative gene(s) retrieved from Orphanet

    Total: 7

Gene Symbol Gene Name Entrez Gene ID
XPA XPA, DNA damage recognition and repair factor 7507
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 2071
XPC XPC complex subunit, DNA damage recognition and repair factor 7508
DDB2 damage specific DNA binding protein 2 1643
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit 2072
ERCC5 ERCC excision repair 5, endonuclease 2073
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 2068