UV-sensitive syndrome

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UV-sensitive syndrome

ORPHA:178338Disease

What it is

A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

ERCC6Disease-causing germline mutation(s)
ERCC8Disease-causing germline mutation(s)
UVSSADisease-causing germline mutation(s)

ICD-10 codes

L98.8filed under a broader ICD-10 category — shared with 19 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10947MESH C563466MONDO 0015797OMIM 600630OMIM 614621OMIM 614640UMLS C1833561

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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