Diagnosis
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| Phakomatosis pigmentovascularis | |
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| Other names | Association of cutaneous vascular malformations and different pigmentary disorders [1] |
| Specialty | Dermatology |
Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a capillary malformation (port-wine stain) with various melanocytic lesions, including dermal melanocytosis (Mongolian spots), nevus spilus, and nevus of Ota.
Phakomatosis pigmentovascularis is subdivided into five types: [2] [3]
They all can contain capillary malformation. Type 2 is the most common and can be associated with granular cell tumor. Some further subdivide each type into categories A & B; with A representing oculocutaneous involvement and subtype B representing extra oculocutaneous involvement. Others have proposed fewer subtypes but currently this rare entity is mostly taught as having five subtypes currently.[ citation needed ]
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A melanocytic nevus is a type of melanocytic tumor that contains nevus cells. Some sources equate the term mole with "melanocytic nevus", but there are also sources that equate the term mole with any nevus form.
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. They can occur anywhere on the skin. Birthmarks are caused by overgrowth of blood vessels, melanocytes, smooth muscle, fat, fibroblasts, or keratinocytes.
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 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.
Melasma is a tan or dark skin discoloration. Melasma is thought to be caused by sun exposure, genetic predisposition, hormone changes, and skin irritation. Although it can affect anyone, it is particularly common in women, especially pregnant women and those who are taking oral or patch contraceptives or hormone replacement therapy medications.
Phakomatoses, or phacomatosis pigmentovascularis (PPV), is the term used for a group of rare syndromes involving structures arising from the embryonic ectoderm. These are characterised by vascular and pigmentary birthmarks or skin lesions, and often involving multiple organ systems in the body. The term is used to describe the “association of a vascular nevus with an extensive pigmentary nevus”.
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.
Nevus of Ota is a hyperpigmentation that occurs on the face, most often appearing on the white of the eye. It also occurs on the forehead, nose, cheek, periorbital region, and temple.
Blue nevus is a type of melanocytic nevus. The blue colour is caused by the pigment being deeper in the skin than in ordinary nevi. In principle they are harmless but they can sometimes be mimicked by malignant lesions, i.e. some melanomas can look like a blue nevus.
A vascular malformation, is a blood vessel or lymph vessel abnormality. Vascular malformations are one of the classifications of vascular anomalies, the other grouping is vascular tumors. They may cause aesthetic problems as they have a growth cycle, and can continue to grow throughout life.
A capillary hemangioma is the most common variant of hemangioma which appears as a raised, red, lumpy area of flesh anywhere on the body, though 83% occur on the head or neck area. These marks occur in about 10% of all births, and usually appear between one and four weeks after birth. It may grow rapidly, before stopping and slowly fading. Some are gone by the age of 2, about 60% by 5 years, and 90–95% by 9 years. Capillary hemangioma is a vascular anomaly.
Eccrine angiomatous hamartoma (EAH), first described by Lotzbeck in 1859, is a rare benign vascular hamartoma characterized histologically by a proliferation of eccrine and vascular components. EAH exists on a spectrum of cutaneous tumors that include eccrine nevus, mucinous eccrine nevus and EAH. Each diagnostic subtype is characterized by an increase in the number as well as size of mature eccrine glands or ducts, with EAH being distinguished by the added vascular component.
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.
Epidermal nevus syndrome is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes. However, since the syndrome's first description, a broader concept for the "epidermal nevus" syndrome has been proposed, with at least six types being described:
Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and genitourinary system.
Nevus spilus is a skin lesion that presents as a light brown or tan macule, speckled with smaller, darker macules or papules. Prevalence is around 2%, according to a limited study by Kopf et al.
Nevus cells are a variant of melanocytes. They are larger than typical melanocytes, do not have dendrites, and have more abundant cytoplasm with coarse granules. They are usually located at the dermoepidermal junction or in the dermis of the skin. Dermal nevus cells can be further classified: type A (epithelioid) dermal nevus cells mature into type B (lymphocytoid) dermal nevus cells which mature further into type C (neuroid) dermal nevus cells, through a process involving downwards migration.
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.
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown. It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.
Diffuse capillary malformation with overgrowth (DCMO) is a subset of capillary malformations (CM) associated with hypertrophy, i.e. increased size of body structures. CM can be considered an umbrella term for various vascular anomalies caused by increased diameter or number of capillary blood vessels. It is commonly referred to as “port-wine stain”, and is thought to affect approximately 0.5% of the population. Typically capillaries in the papillary dermis are involved, and this gives rise to pink or violaceous colored lesions. Majority of DCMO lesions are diffuse, reticulated pale-colored stains.
| Classification | |
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