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List Of Cutaneous Conditions Caused By Problems With Junctional Proteins
Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integumentary system * List of target antigens in pemphigus * List of immunofluorescence findings for autoimmune bullous conditions * List of cutaneous conditions * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * Keratoderma Keratoderma is a hornlike skin condition. Classification The keratodermas are classified into the following subgroups:Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Congenital * Simple ker ... References * * {{DEFAULTSORT:Cutaneous conditions caused by problems with junctional proteins Junctional proteins Dermatology-related lists ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmocollin 1
Desmocollins are a subfamily of desmosomal cadherins, the transmembrane constituents of desmosomes. They are co-expressed with desmogleins to link adjacent cells by extracellular adhesion. There are seven desmosomal cadherins in humans, three desmocollins and four desmogleins. Desmosomal cadherins allow desmosomes to contribute to the integrity of tissue structure in multicellular living organisms. Structure Three isoforms of desmocollin proteins have been identified. * Desmocollin-1, coded by the DSC1 gene * Desmocollin-2, coded by the DSC2 gene * Desmocollin-3, coded by the DSC3 gene Each desmocollin gene encodes a pair of proteins: a longer 'a' form and a shorter 'b' form. The 'a' and 'b' forms differ in the length of their C-terminus tails. The protein pair is generated by alternative splicing. Desmocollin has four cadherin-like extracellular domains, an extracellular anchor domain, and an intracellular anchor domain. Additionally, the 'a' form has an intracellu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Localized Autosomal Recessive Hypotrichosis
Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarring is not usually present. Hair loss in some people causes psychological distress. Common types include male- or female-pattern hair loss, alopecia areata, and a thinning of hair known as telogen effluvium. The cause of male-pattern hair loss is a combination of genetics and male hormones; the cause of female pattern hair loss is unclear; the cause of alopecia areata is autoimmune; and the cause of telogen effluvium is typically a physically or psychologically stressful event. Telogen effluvium is very common following pregnancy. Less common causes of hair loss without inflammation or scarring include the pulling out of hair, certain medications including chemotherapy, HIV/AIDS, hypothyroidism, and malnutrition including iron defici ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corneodesmosin
Corneodesmosin is a protein that in humans is encoded by the ''CDSN'' gene. This gene encodes a protein found in corneodesmosomes, which localize to the human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. See also * Hypertrichosis simplex of the scalp * List of conditions caused by problems with junctional proteins Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integume ... References Further reading * * * * * * * * * * * * * * * * * {{gene-6-stub Plakins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakophilin 2
Plakophilin-2 is a protein that in humans is encoded by the ''PKP2'' gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in ''PKP2'' have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy. Structure Two splice variants of the ''PKP2'' gene have been identified. The first has a molecular weight of 97.4 kDa (881 amino acids) and the second of molecular weight of 92.7 kDa (837 amino acids). A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. Plakophilin-2 is a member of the armadillo repeat and plakophilin protein family. Plakophilin proteins contain nine central, conserved armadillo repeat domains flanked by N-terminal and C-terminal domains. Alternately spliced transcripts encoding protein isoforms have been ide ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectodermal Dysplasia–skin Fragility Syndrome
Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions. It is associated with ''PKP1''. See also * List of conditions caused by problems with junctional proteins Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integume ... References External links Genodermatoses Syndromes {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakophilin 1
Plakophilin-1 is a protein that in humans is encoded by the ''PKP1'' gene. Function This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Interactions PKP1 has been shown to interact with Desmoplakin. See also * Skin fragility syndrome Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions. It is associated with ''PKP1''. See also * List of conditions caused by problems with junctional ... References Further reading * * * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Naxos Disease
__notoc__ Naxos disease (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Nikos Protonotarios) is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands. It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP). Naxos disease has the same cutaneous phenotype as the Carvajal syndrome. Symptoms Between 80 and 99% of those with Naxos disease will display some of the following symptoms: * Disease of the heart muscle * Thickening of palms and soles * Sudden increased heart rate * Dizzy spells * Kinked hair See also * Olmsted syndrome * List of cutaneous conditions * List of conditions cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakoglobin
Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the ''JUP'' gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic component of desmosomes and adherens junctions structures located within intercalated discs of cardiac muscle that function to anchor sarcomeres and join adjacent cells in cardiac muscle. Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. Structure Human plakoglobin is 81.7 kDa in molecular weight and 745 amino acids long. The ''JUP'' gene contains 13 exons spanning 17 kb on chromosome 17q21. Plakoglobin is a member of the catenin family, since it contains a distinct repeating amino acid motif called the armadillo repeat. Plakoglobin is highly similar to β-catenin; both have 12 armadillo repeats as well as N-terminal and C-terminal globular domains of unknown structure. Plakoglobin was originally identifie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stevens–Johnson Syndrome
Stevens–Johnson syndrome (SJS) is a type of severe skin reaction. Together with toxic epidermal necrolysis (TEN) and Stevens–Johnson/toxic epidermal necrolysis (SJS/TEN), it forms a spectrum of disease, with SJS being less severe. Erythema multiforme (EM) is generally considered a separate condition. Early symptoms of SJS include fever and flu-like symptoms. A few days later, the skin begins to blister and peel, forming painful raw areas. Mucous membranes, such as the mouth, are also typically involved. Complications include dehydration, sepsis, pneumonia and multiple organ failure. The most common cause is certain medications such as lamotrigine, carbamazepine, allopurinol, sulfonamide antibiotics and nevirapine. Other causes can include infections such as '' Mycoplasma pneumoniae'' and cytomegalovirus, or the cause may remain unknown. Risk factors include HIV/AIDS and systemic lupus erythematosus. The diagnosis of Stevens–Johnson syndrome is based on involvemen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paraneoplastic Pemphigus
Paraneoplastic pemphigus (PNP) is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes. While patients with malignant and benign tumors are both at risk, malignancy is associated with high mortality rates (near 90%). Current treatment focuses on general wound healing and administering corticosteroids, which has not demonstrated a high success rate. Recent research developments aim to treat the underlying tumor in order to alleviate the symptoms of PNP. Signs and symptoms While the presence of lesions is the denominator among patients with PNP, the characteristics of the lesions differ. The five clinical presentations of lesions associated with PNP include: * "Pemphigus-like": Flaccid blister (discrete), crusts over the raw exuding skin lesions * "Pemphigoid-like": Tense blister(s) on brick red erythema * "Erythema multiforme-like": Sev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lethal Acantholytic Epidermolysis Bullosa
Lethal acantholytic epidermolysis bullosa is a fatal genetic skin disorder caused by mutations in DSP See also * Desmoplakin * List of conditions caused by problems with junctional proteins *Epidermolysis bullosa Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Inherited E ... Notes External links Genodermatoses {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin Fragility–wooly Hair Syndrome
Afro-textured hair, or kinky hair, is a human hair texture originating from sub-Saharan Africa. Each strand of this hair type grows in a tiny, angle-like helix shape. The overall effect is such that, contrasted with straight, wavy, or curly hair, afro-textured hair appears denser. Terminology English adjectives such as "woolly", "kinky", "nappy", or "spiraled" have been used to describe natural afro-textured hair. More formally, '' ulotrichous'' ("curly-haired", Greek , from 'woolly, fleecy' and 'hair') refers to afro-textured hair, its antonym being ''leiotrichous'' ("smooth-haired"). Jean Baptiste Bory de Saint-Vincent in 1825 introduced the scientific term ''Oulotrichi'' for the purpose of human taxonomy. In 1997, hairstylist Andre Walker created a numerical grading system for human hair types. The Andre Walker Hair Typing System classifies afro-textured hair as 'type 4' (there are other types of hair, defined as type 1 for straight hair, type 2 for wavy, and type 3 fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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