Week 5: Medical Genetics- Genodermatoses Flashcards
Inheritance of ichthyosis vulgaris
AD
Skin features of ichthyosis vulgaris
Prominent white scale, hyperlinear palms
Inheritance of X-Linked Ichthyosis
XLR
Skin features of X-Linked Ichthyosis
brown, adherent scales
What analyte on quad screen could indicate XL ichthyosis
LOW uE3
Inheritance of epidermolytic ichthyosis
AD
Skin features of epidermolytic ichthyosis
Denuded skin w/ or w/out blistering
Inheritance of Lamellar Ichthyosis
AR
Skin findings in newborn with Lamellar ichthyosis
Collodion baby
Skin findings in adult with lamellar ichthyosis
diffuse, large, dark plate-like scales
Inheritance of Harlequin Ichthyosis
AR
U/s finding in fetus with Harlequin Ichthyosis
snowflake sign
Skin findings in Harlequin ichythosis
Massive hyperketatotic, diamond-shaped plates with deep fissures
Inheritance of epidermolysis bullosa simplex
AR
Skin features in EBS
Blistering of skin
Inheritance of junctional EB
AR
3 features of JEB
Blistering of skin, hoarse cry, bad teeth
Inheritance of Recessive Dystrophic Epidermolysis Bullosa
AR
2 features of RDEB
Blistering of skin, mitten deformity
Inheritance of NF1
AD
Skin findings in NF1
CALs, neurofibromas, axillary/inguinal freckling
Inheritance of Legius Syndrome
AD
Skin findings in Legius Syndrome
CALs, freckling
Inheritance of TSC
AD
Skin findings in TSC
Ashleaf macules, shagreen patches, angiofibromas, periungunal fibromas
Inheritance of Incontinetia Pigmenti
XLD
4 stages of skin problems in Incontinetia Pigmenti
Vesicular–> verrucous–> pigmentary–> atrophic
