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Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. [4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin. [4] The disorder is autosomal recessive and inherited from parents who are carriers. [4] Diagnosis is often based on appearance at birth and confirmed by genetic ...
A birthmark is a congenital, benign irregularity on the skin which is present at birth or appears shortly after birth—usually in the first month. Birthmarks can occur anywhere on the skin. [ 1 ] They are caused by overgrowth of blood vessels , melanocytes , smooth muscle , fat , fibroblasts , or keratinocytes .
The most common form, seen in infants, is an infantile hemangioma, known colloquially as a "strawberry mark", most commonly presenting on the skin at birth or in the first weeks of life. A hemangioma can occur anywhere on the body, but most commonly appears on the face, scalp, chest or back.
Nevus (pl.: nevi) is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. [1] The term originates from nævus, which is Latin for "birthmark"; however, a nevus can be either congenital (present at birth) or acquired.
Café au lait spots, or café au lait macules, are flat, hyperpigmented birthmarks. [1] The name café au lait is French for "coffee with milk" and refers to their light-brown color. They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. [ 2 ]
A healthcare provider can usually diagnose a port-wine stain based entirely upon the history and appearance. In unusual cases, a skin biopsy may be needed to confirm the diagnosis. Depending on the location of the birthmark and other associated symptoms, a physician may choose to order a measurement of intraocular pressure or X-ray of the skull.
It is a benign tumor, which occurs in 4-5% of Caucasian infants, but rarely in dark skinned infants. [6] It occurs in 20% of low weight premature infants and 2.2 to 4.5 times more frequently in females. [7] IH most commonly presents in the head and neck region (60%), but also involves the trunk and extremities.
Alfred Blaschko, a private practice dermatologist from Berlin, first described and drew the patterns of the lines of Blaschko in 1901. He obtained his data by studying over 140 patients with various nevoid and acquired skin diseases and transposed the visible patterns the diseases followed onto dolls and statues, then compiled the patterns onto a composite schematic of the human body.