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Phakomatosis Pigmentovascularis
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. Types Phakomatosis pigmentovascularis is subdivided into five types:Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). Page 1012. McGraw-Hill. . * Type 1 PWS + epidermal nevus * Type 2 (most common): PWS + dermal melanocytosis +/- nevus anemicus * Type 3: PWS + nevus spilus +/- nevus anemicus * Type 4: PWS + nevus spilus + dermal melanocytosis +/- nevus anemicus * Type 5: CMTC (Cutis marmorata telangiectatica congenita) + dermal melanocytosis 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 ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phakomatosis
Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance. Many phakomatoses are caused by mutations which alter functioning of the RAS–mitogen-activated protein kinase (MAPK) pathway that regulates cellular growth, differentiation, proliferation and death. This results in a tendency for individuals with these mutations to develop various types of benign or malignant tumors depending on the particular mutation. The presence of these tumors may result in functional and/or cosmetic problems depending on their type and location. History The te ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Port-wine Stain
A port-wine stain (''nevus flammeus'') is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). They are so named for their coloration, which is similar in color to port wine, a fortified red wine from Portugal. A port-wine stain is a capillary malformation, seen at birth. Port-wine stains persist throughout life. The area of skin affected grows in proportion to general growth. Port-wine stains occur most often on the face but can appear anywhere on the body, particularly on the neck, upper trunk, arms and legs. Early stains are usually flat and pink in appearance. As the child matures, the color may deepen to a dark red or purplish color. In adulthood, thickening of the lesion or the development of small lumps may occur. Port-wine stains may be part of a syndrome such as Sturge–Weber syndrome or Klippel–Trénaunay–Weber syndrome. Types Nevus flammeus may be divided as follows:James, William; Berger, Timothy; Elst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mongolian Spot
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. It normally disappears three to five years after birth and almost always by puberty. The most common color is blue, although they can be blue-gray, blue-black or deep brown. Cause Mongolian spot is a congenital developmental condition—that is, one existing from birth—exclusively involving the skin. The blue colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. Usually, as multiple spots or one large patch, it covers one or more of the lumbosacral area (lower back), the buttoc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nevus Spilus
Nevus spilus, also known as speckled lentiginous nevus, is a light brown or tan birth mark, speckled with small, dark spots or small bumps. If it occurs in a segmental pattern then it is sometimes referred to as a Zosteriform speckled lentiginous nevus. It may be associated with types of phakomatosis pigmentovascularis. Prevalence is between 0.2% and 2.8%. See also * Phakomatosis pigmentokeratotica * Skin lesion * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier agai ... References External links Melanocytic nevi and neoplasms {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nevus Of Ota
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. It was first reported by Masao Ōta of Japan in 1939. Cause Nevus of Ota is caused by the entrapment of melanocytes in the upper third of the dermis. It is found only on the face, most commonly unilaterally, rarely bilaterally and involves the first two branches of the trigeminal nerve. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma). It should not be confused with Mongolian spot, which is a birthmark caused by entrapment of melanocytes in the dermis but is located in the lumbosacral region. Women are nearly five times more likely to be affected than men, and it is rare among Caucasian people. Nevus of Ota may not be congenital, and may appear during puberty. Skin treatment A Q-switched 1064 nm laser has been successfully used to treat the conditio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermal And Subcutaneous Growths
The dermis or corium is a layer of skin between the epidermis (with which it makes up the cutis) and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain. It is divided into two layers, the superficial area adjacent to the epidermis called the papillary region and a deep thicker area known as the reticular dermis.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology'' (10th ed.). Saunders. Pages 1, 11–12. . The dermis is tightly connected to the epidermis through a basement membrane. Structural components of the dermis are collagen, elastic fibers, and extrafibrillar matrix.Marks, James G; Miller, Jeffery (2006). ''Lookingbill and Marks' Principles of Dermatology'' (4th ed.). Elsevier Inc. Page 8–9. . It also contains mechanoreceptors that provide the sense of touch and thermoreceptors that provide the sense of heat. In addition, hair follic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
