Hereditary Sclerosing Poikiloderma
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Hereditary Sclerosing Poikiloderma
Hereditary sclerosing poikiloderma is an autosomal dominant conditions with skin changes consisting of generalized poikiloderma appearing in childhood.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . See also * Mandibuloacral dysplasia * Poikiloderma * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ... References External links Genodermatoses Genetic disorders with OMIM but no gene {{Genodermatoses-stub ...
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Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Poikiloderma
Poikiloderma is a skin condition that consists of areas of hypopigmentation, hyperpigmentation, telangiectasias and atrophy. Poikiloderma of Civatte is most frequently seen on the chest or the neck, characterized by red colored pigment on the skin that is commonly associated with sun damage. Types * Poikiloderma vasculare atrophicans * Poikiloderma of Civatte * Hereditary sclerosing poikiloderma Causes *Congenital # Rothmund-Thompson syndrome #Dyskeratosis congenita # Mendes da Costa syndrome *Other hereditary causes # Degos-Touraine syndrome #Diffuse and macular atrophic dermatosis #Hereditary sclerosing poikiloderma of weary # Kindler syndrome #Xeroderma pigmentosum *Acquired #Injury to cold, heat, ionizing radiation, exposure to sensitizing chemicals #Lichen planus #Dermatomyositis #Lupus erythematosus #Systemic sclerosis #Cutaneous T cell lymphomas Pathogenesis The exact cause of poikiloderma of Civatte is unknown; however, extended sun exposure, namely the ultraviolet li ...
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Mandibuloacral Dysplasia
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Types See also * Hereditary sclerosing poikiloderma * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ... References External links Genodermatoses {{Genodermatoses-stub ...
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Poikiloderma
Poikiloderma is a skin condition that consists of areas of hypopigmentation, hyperpigmentation, telangiectasias and atrophy. Poikiloderma of Civatte is most frequently seen on the chest or the neck, characterized by red colored pigment on the skin that is commonly associated with sun damage. Types * Poikiloderma vasculare atrophicans * Poikiloderma of Civatte * Hereditary sclerosing poikiloderma Causes *Congenital # Rothmund-Thompson syndrome #Dyskeratosis congenita # Mendes da Costa syndrome *Other hereditary causes # Degos-Touraine syndrome #Diffuse and macular atrophic dermatosis #Hereditary sclerosing poikiloderma of weary # Kindler syndrome #Xeroderma pigmentosum *Acquired #Injury to cold, heat, ionizing radiation, exposure to sensitizing chemicals #Lichen planus #Dermatomyositis #Lupus erythematosus #Systemic sclerosis #Cutaneous T cell lymphomas Pathogenesis The exact cause of poikiloderma of Civatte is unknown; however, extended sun exposure, namely the ultraviolet li ...
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Skin Lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause (skin conditions resul ...
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Genodermatoses
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ...
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