What is Ichthyosis ?
Ichthyosis is when superficial layers of the skin show excessive cornification, a scaly appearance
Harlequin Ichthyosis is the most severe form of autosomal recessive congenital Ichthyosis.
What are the characteristics of Harlequin Ichthyosis ?
Profound thickening of the keratin layer in fetal skin
Affected neonate is born with massive, horny shell of dense, plate-like scale.
Contraction abnormalities of the eyes, ears, mouth, and appendages.
What are the affects of Harlequin Ichthyosis ?
Armour limits movement and compromises protective skin barrier, leaving the newborn susceptible to metabolic abnormalities and infection.
Harlequin Ichthyosis is derived from newborn's facial expression and the triangular, and diamond-shaped pattern of Hyperkeratosis.
What is a Mongolian Spot ?
A Mongolian Spot refers to a macular blue-gray pigmentation of healthy infants.
Mongolian spots are usually present at birth or appear within the first few weeks of life.
Mongolian spots usually disappear spontaneously within 4 years but can persist for life.
What are Café-Au-Lait Spots ?
Café-Au-Lait Spots are light-tan or light-brown spots that are usually oval in shape.
Very common
Usually appear at birth but may develop in the first few years of a child's life.
Café-Au-Lait Spots may be a normal type of birthmark
BUT the presence of several spots larger than a small coin may occur in Neurofibromatosis. Type 1
There is no known way to prevent birthmarks.
What is Strawberry Naevus ?
Strawberry Naevus is a Haemangioma which occurs in infancy, usually on the face.
Lesions may be present at birth, or may develop in the first few weeks after birth.
Describe the Strawberry Naevus
The Strawberry Naevus begins as a small, flat red area.
Usually develops into a raised dimpled (strawberry-like) lesion.
Lesions typically grows in size as the child grows, until the age of 3/4 years, when they start to regress spontaneously.
This process can take up to 10 years.
What does Strawberry Naevus respond to ?
Strawberry Naevus responds to Beta-blockers