Dermatology · Dermatology / DNA repair disorders
Xeroderma pigmentosum
also: De Sanctis–Cacchione syndrome (neurologic variant); XP
Extreme UV sensitivity with high skin cancer risk.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / DNA repair disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, onset in infancy
- Gene(s) involved
- DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
- Alternative names & eponyms
- De Sanctis–Cacchione syndrome (neurologic variant); XP
Etiology & mechanism
Defective nucleotide excision repair of UV DNA damage.
Gene(s) involved (9)
Symptoms & signs (7)
In plain terms, someone with Xeroderma pigmentosum may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Adie tonic pupil syndrome
photophobia
1 shared
Alström syndrome
photophobia
1 shared
Barakat syndrome
sensorineural deafness
1 shared
Brown–Vialetto–Van Laere syndrome
sensorineural deafness
1 shared
Chédiak–Higashi syndrome
photophobia
1 shared
Cyclic vomiting syndrome
photophobia
1 shared
Dry eye syndrome
photophobia
1 shared
EAST syndrome
sensorineural deafness
1 shared
KID syndrome
sensorineural deafness
1 shared
LEOPARD syndrome
sensorineural deafness
Shares genes with
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