Patro et al reported an algorithm for the diagnosis of photosensitivity in a pediatric patient. A subset involves patients who have an hereditary syndrome The authors are from multiple institutions in India.
Patient selection: pediatric patient with photosensitivity
Parameters:
(1) age of onset
(2) key clinical finding
(3) other clinical findings
Age of Onset
Key Finding
Other Findings
Diagnosis
birth to 3 months
abnormal urine porphyrins
NA
congenital or hepatic erythropoietic porphyria
first year
freckles
neurologic and ophthalmologic changes, predisposition to malignancy
xeroderma pigmentosa
first year
freckles
characteristic facies
Cockayne syndrome
first year
freckles
none of changes seen in xeroderma pigmentosa
ultraviolet light sensitivity
first year
characteristic facies
hypospadias
Smith-Lemli-Opitz syndrome
first year
characteristic hair changes
ichythyosis
trichothiodystrophy
first year
poikiloderma
bone and dental abnormalities
Rothmund Thomson syndrome
first year
poikiloderma
severe growth retardation, predisposition to malignancy
Bloom syndrome
first year
poikiloderma
skin fragility, premature aging, predisposition to malignancy
Kindler syndrome
1 to 5 years
abnormal urine porphyrins
NA
erythropoietic protoporphyria
1 to 5 years
pellagroid rash and cerebellar ataxia
NA
Hartnup disease
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