Pili multigemini, also known as a “wood hair”, is a malformation characterized by the presence of bifurcated or multiple divided hair matrices and papillae, giving rise to the formation of multiple hair shafts within the individual follicles.
Nevus is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. The term originates from nævus, which is Latin for "birthmark", however, a nevus can be either congenital or acquired. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific types of nevi from one another.
A port-wine stain, also commonly called a firemark, is a discoloration of the human skin caused by a vascular anomaly. They are so named for their coloration, which is similar in color to port wine, a fortified red wine from Portugal.
In female human anatomy, the intermammary cleft or intermammary sulcus or sulcus intermammarius of a woman is delineated by where the fatty portions of each breast sits in relationship to the sternum. It divides the two mammary complexes that consist of two bodies of fatty pads, glandular tissues of mammary glands, connective tissues, and skin, as well as two duct systems and lobule alveoli emanating from two nipples. Lymph vessels can ventrally extend as far as the intermammary sulcus.
Lymphangiomas are malformations of the lymphatic system characterized by lesions that are thin-walled cysts; these cysts can be macroscopic, as in a cystic hygroma, or microscopic. The lymphatic system is the network of vessels responsible for returning to the venous system excess fluid from tissues as well as the lymph nodes that filter this fluid for signs of pathogens. These malformations can occur at any age and may involve any part of the body, but 90% occur in children less than 2 years of age and involve the head and neck. These malformations are either congenital or acquired. Congenital lymphangiomas are often associated with chromosomal abnormalities such as Turner syndrome, although they can also exist in isolation. Lymphangiomas are commonly diagnosed before birth using fetal ultrasonography. Acquired lymphangiomas may result from trauma, inflammation, or lymphatic obstruction.
Lymphangitis is an inflammation or an infection of the lymphatic channels that occurs as a result of infection at a site distal to the channel. The most common cause of lymphangitis in humans is Streptococcus pyogenes, although it can also be caused by the fungus Sporothrix schenckii. Lymphangitis is sometimes mistakenly called "blood poisoning". In reality, "blood poisoning" is synonymous with sepsis.
A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one or more cysts and tends to grow larger over time. The disorder usually develops while the fetus is still in the uterus, but can also appear after birth.
Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis. Angiokeratoma corporis diffusum refers to Fabry's disease, but this is usually considered a distinct condition.
Milroy's disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy of soft tissues.
Nevus anemicus is a congenital disorder characterized by macules of varying size and shape that are paler than the surrounding skin and cannot be made red by trauma, cold, or heat. The paler area is due to the blood vessels within the area which are more sensitive to the body’s normal vasoconstricting chemicals.
Cavernous venous malformations present as rounded, bright red or deep purple, spongy nodules, occurring chiefly on the head and neck and may involve both the skin and the mucous membranes.
Superficial lymphatic malformation is a congenital malformation of the superficial lymphatics, presenting as groups of deep-seated, vesicle-like papules resembling frog spawn, at birth or shortly thereafter. Lymphangioma circumscriptum is the most common congenital lymphatic malformation. It is a benign condition and treatment is not required if the person who has it does not have symptoms from it.
Solar purpura is a skin condition characterized by large, sharply outlined, 1- to 5-cm, dark purplish-red ecchymoses appearing on the dorsa of the forearms and less often the hands.
Elephantiasis nostras is a cutaneous condition, a final hypertrophic fibrosis following longstanding chronic lymphangitis.
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus, venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinctly separate from, the less common Parkes-Weber syndrome.
Sinusoidal hemangioma is a condition, by something of a misnomer, a term for a lesion that is a vascular malformation with various clinical presentations. This condition may present as nodules, often in the breast area or extremities, or as large firm bulging facial masses beneath normal-appearing skin; the latter have an aggressive and invasive course.
A vascular anomaly is a kind of birthmark caused by a disorder of the vascular development, although it is not always present at birth. A vascular anomaly is a localized defect in blood vessels that can affect each part of the vasculature. These defects are characterized by an increased number of vessels and vessels that are both enlarged and sinuous. Some vascular anomalies are congenital and therefore present at birth, others appear within weeks to years after birth and others are acquired by trauma or during pregnancy. Inherited vascular anomalies are also described and often present with a number of lesions that increase with patients’ age. Vascular anomalies can also be a part of a syndrome and, occasionally, they can be acquired by trauma. The estimated prevalence of vascular anomalies is 4.5%. Vascular anomalies can occur throughout the whole body, but in 60% of patients vascular anomalies are localized in the head and neck region. Vascular anomalies can present in various ways. Vascular anomalies that are situated deep below the skin, appear blue and are often called cavernous. Superficial vascular anomalies appear as red-coloured stains and are associated with vascular anomalies affecting the dermis. Historically, vascular anomalies have been labeled with descriptive terms, according to the food they resembled. This imprecise terminology has caused diagnostic confusion, blocked communication and even caused incorrect treatment, as it does not differentiate between various vascular anomalies. However, in 1982, Mulliken introduced a classification that replaced these descriptive terms and gave direction to the management of various vascular anomalies. This classification, based on clinical features, natural history and cellular characteristics, divides vascular anomalies into two groups: vascular tumors and vascular malformations. Although the appearance of both vascular tumors and vascular malformations can resemble, there are important differences between both.
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.
Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema, the presence of telegiectasias, and hypotrichosis or alopecia. Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.
