Chapter 75 - Albinism and Other Genetic Disorders of Pigmentation Flashcards
TABLE 75-3
Subtypes of Waardenburg Syndrome
DISORDER TYPE
CLINICAL FEATURE
- White forelock
- Heterochromia irides
- Dystopia canthorum
WS1
TABLE 75-3
Subtypes of Waardenburg Syndrome
DISORDER TYPE
CLINICAL FEATURE
- White forelock
- Heterochromia irides
WS2
TABLE 75-3
Subtypes of Waardenburg Syndrome
DISORDER TYPE
CLINICAL FEATURE
- White forelock
- Heterochromia irides
- Dystopia canthorum
- Axial and limb musculoskeletal anomalies
WS3
TABLE 75-3
Subtypes of Waardenburg Syndrome
DISORDER TYPE
CLINICAL FEATURE
- White forelock
- Heterochromia irides
- Dystopia canthorum
- Hirschsprung disease
WS4
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Diagnosis requires either ___ major criteria or ___ major and ___ minor criteria
Diagnosis requires either 2 major criteria or 1 major and 2 minor criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Characteristic white forelock
Major Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Pigmentary anomalies of the iris
Major Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Congenital sensorineural deafness
Major Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Dystopia canthorum
Major Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
An affected first-degree relative
Major Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Depigmented macules or patches
Minor Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Synophrys
Minor Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Broad nasal root
Minor Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Nose hypoplasia
Minor Criteria
TABLE 75-4
Criteria for Diagnosis of Waardenburg Syndrome
Major VS Minor
Early graying the hair by age 35 years
Minor Criteria
TABLE 75-5
Genetic Heterogeneity of Reticulate Pigment Disorders
DISORDER TYPE
CLINICAL FEATURE
Usually in a flexural distribution, sometimes, generalized distribution
Dowling-Degos disease (DDD)
TABLE 75-5
Genetic Heterogeneity of Reticulate Pigment Disorders
DISORDER TYPE
CLINICAL FEATURE
In acral distribution with mixed hyper- and hypopigmentation
Dyschromatosis Symmetrica Hereditaria (DSH)
TABLE 75-5
Genetic Heterogeneity of Reticulate Pigment Disorders
DISORDER TYPE
CLINICAL FEATURE
In generalized distribution over the trunk with mixed hyper- and hypopigmentation
Dyschromatosis Universalis Hereditaria (DUH)
TABLE 75-5
Genetic Heterogeneity of Reticulate Pigment Disorders
DISORDER TYPE
CLINICAL FEATURE
In an acral distribution
Reticulate Acropigmentation of Kitamura (RAK)
