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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 .
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. An MRI of the brain may be performed (under anesthesia) on infants who have a port-wine stain in the head area in order to check for signs of Sturge–Weber syndrome. [2]
Congenital hemangiomas that appear on the skin are known as either vascular or red birthmarks. Familial cerebral cavernous malformations are known to occur. The mutations may be inherited in an autosomal dominant fashion or occur sporadically. Overall, familial disease is thought to be responsible for one-third to one-half of cases. [7]
An infantile hemangioma (IH), sometimes called a strawberry mark due to appearance, is a type of benign vascular tumor or anomaly that affects babies. [1] [2] Other names include capillary hemangioma, [6] "strawberry hemangioma", [7]: 593 strawberry birthmark [8] and strawberry nevus.
Infantile hemangioma is the most common vascular tumor. 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]
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors).
A Mongolian spot, also known as slate grey nevus or congenital dermal melanocytosis, is a benign, flat, congenital birthmark with wavy borders and an irregular shape. In 1883, it was described and named after Mongolians by Erwin Bälz, a German anthropologist based in Japan, who erroneously believed it to be most prevalent among his Mongolian patients.
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.