Bart–Pumphrey Syndrome

	Bart–Pumphrey Syndrome Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness") is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphalangeal joints. It was characterized in 1967. It can be associated with GJB2. See also * Camisa disease * List of cutaneous conditions * Bart syndrome * Palmoplantar keratoderma Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described. Types C ... References External links Palmoplantar keratodermas Syndromes {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Palmoplantar Keratoderma Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner," "Vörner's epidermolytic palmoplantar keratoderma", and "Vörn ... [...More Info...] [...Related Items...] OR:* [Wikipedia] [Google] [Baidu]
picture info	Leukonychia Leukonychia (or leuconychia) is a medical term for white discoloration appearing on nails.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. pp. 658–59. . It is derived from the Greek words ''leuko'' 'white' and ''onyx'' 'nail'. The most common cause is injury to the base of the nail (the matrix) where the nail is formed. Types Leukonychia totalis This condition consists of a whitening of the entire nail and mostly likely occurs on all nails. Whitening of one, and only one, entire nail is not recognized as a symptom of Leukonychia totalis but as a likely result of mechanical trauma. Leukonychia totalis may be a clinical sign of hypoalbuminaemia (low albumin), which can be seen in nephrotic syndrome (a form of kidney failure), liver failure, protein malabsorption and protein-losing enteropathies. A genetic condition or a side effect from taking sulphonamides (a family of antibiotics) can also cause this appearance. By 2011, on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Hyperkeratoses Hyperkeratosis is thickening of the stratum corneum (the outermost layer of the epidermis, or skin), often associated with the presence of an abnormal quantity of keratin,Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Pathologic Basis of Disease'' (7th ed.). Saunders. Page 1230. . and also usually accompanied by an increase in the granular layer. As the corneum layer normally varies greatly in thickness in different sites, some experience is needed to assess minor degrees of hyperkeratosis. It can be caused by vitamin A deficiency or chronic exposure to arsenic. Hyperkeratosis can also be caused by B-Raf inhibitor drugs such as Vemurafenib and Dabrafenib.Niezgoda, Anna; Niezgoda, Piotr; Czajkowski, Rafal (2015) ''Novel Approaches to Treatment of Advanced Melanoma: A Review of Targeted Therapy and Immunotherapy'' BioMed Research International It can be treated with urea-containing creams, which dissolve the intercellular matrix of the cells of the stratum co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Metacarpophalangeal The metacarpophalangeal joints (MCP) are situated between the metacarpal bones and the proximal phalanges of the fingers. These joints are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the proximal phalanges. Being condyloid, they allow the movements of flexion, extension, abduction, adduction and circumduction at the joint. Structure Ligaments Each joint has: * palmar ligaments of metacarpophalangeal articulations * collateral ligaments of metacarpophalangeal articulations Dorsal surfaces The dorsal surfaces of these joints are covered by the expansions of the Extensor tendons, together with some loose areolar tissue which connects the deep surfaces of the tendons to the bones. Function The movements which occur in these joints are flexion, extension, adduction, abduction, and circumduction; the movements of abduction and adduction are very limited, and cannot be performed while th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Interphalangeal Joints Interphalangeal joint may refer to: Interphalangeal articulations of hand The interphalangeal joints of the hand are the hinge joints between the phalanges of the fingers that provide flexion towards the palm of the hand. There are two sets in each finger (except in the thumb, which has only one joint): "proximal in ... * Interphalangeal articulations of foot {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	GJB2 Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the ''GJB2'' gene. Clinical significance Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or ''GJB2''-related deafness). One fairly common mutation is the deletion of one guanine from a string of six, resulting in a frameshift and termination of the protein at amino acid number 13. Having two copies of this mutation results in deafness. Connexin 26 also plays a role in tumor suppression through mediation of the cell cycle. The abnormal expression of Cx26, correlated with several types of human cancers, may serve as a prognostic factor for cancers such as colorectal cancer, breast cancer, and bladder cancer. Furthermore, Cx26 over-expression is suggested to promote cancer development by facilitating cell migration and invasion and by stimulating the self-perpetuation abi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Camisa Disease Camisa disease is the variant form of Vohwinkel syndrome, characterized by ichthyosis and normal hearing.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is associated with loricrin. It was characterized in 1984 and 1988. See also * Palmoplantar keratoderma * Keratoderma * 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 t ... References External links Palmoplantar keratodermas {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	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 mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Bart Syndrome Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails. History This clinical trial was first described by Bruce J Bart in 1966, who reported a large family with 26 affected members. Clinical 1. Absence of skin at birth, involving the lower legs and feet, healing within a few months, leaving scarring and fragile skin. 2. Widespread blistering of the skin and mucous membranes. 3. Variable absence and dystrophy of nails. Genetics The syndrome is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable. Blistering in Bart syndrome represents a form of epidermolysis bullosa caused by ultrastructural abnormaliti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Palmoplantar Keratodermas Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner," "Vörner's epidermolytic palmoplantar keratoderma", and "V� ... [...More Info...] [...Related Items...] OR:* [Wikipedia] [Google] [Baidu]