|
Palmoplantar Keratodermas
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant trait, dominant, X-linked, and acquired forms have all been described in medical literature. 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", "Vö ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin Disorder
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, Nail (anatomy), 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, List of cutaneous conditions#Conditions of the mucous membranes, conditions of the mucous membran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLURP1
Secreted Ly-6/uPAR-related protein 1 is a protein that in humans is encoded by the ''SLURP1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... It exerts anti-inflammatory effects, acts as a tumor suppressor, and antagonizes nicotinic receptors. Function The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is secreted into the blood and is also sometimes found in semen when extracted into the female zygote which binds to the α7-acetylcholine receptor. It is shown to act as an endogenous tumor suppressor by reducing cell migration and invasion by mediating its own anti-tumor effect and by antagonizing the pro-malignant effects of nicotine. Mutations in this gene have been associated with Mal de Meleda, a rare a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 keratodermas ** Diffuse palmoplantar keratodermas *** Diffuse epidermolytic palmoplantar keratoderma *** Diffuse nonepidermolytic palmoplantar keratoderma *** mal de Meleda ** Focal palmoplantar keratoderma *** Striate palmoplantar keratoderma ** Punctate palmoplantar keratoderma *** Keratosis punctata palmaris et plantaris *** Spiny keratoderma *** Focal acral hyperkeratosis * Complex keratodermas ** Diffuse palmoplantar keratoderma *** Erythrokeratodermia variabilis *** Palmoplantar keratoderma of Sybert *** Olmsted syndrome *** Naegeli–Franceschetti–Jadassohn syndrome ** Focal palmoplantar keratoderma *** Papillon–Lefèvre syndrome *** Pachyonychia congenita type I *** Pachyonychia congenita type II *** Focal palmoplantar keratoderma w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 1
Keratin 1 is a Type II intermediate filament (IFs) of the intracytoplasmatic cytoskeleton. Is co-expressed with and binds to Keratin 10, a Type I keratin, to form a coiled coil heterotypic keratin chain. Keratin 1 and Keratin 10 are specifically expressed in the spinous and granular layers of the epidermis. In contrast, basal layer keratinocytes express little to no Keratin 1. Mutations in ''KRT1'', the gene encoding Keratin 1, have been associated with variants of the disease bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected. Mutations in ''KRT10'' have also been associated with bullous congenital ichthyosiform erythroderma; however, in patients with KRT10 mutations the palms and soles are spared. This difference is likely due to Keratin 9, rather than Keratin 10, being the major binding partner of Keratin 1 in acral (palm and sole) keratinocytes. Type II cytokeratins are clustered in a region of chromosome 12q12-q13. Interact ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 16
Keratin 16 is a protein that in humans is encoded by the ''KRT16'' gene. Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial tissues, including nail bed, esophagus, tongue, and hair follicle The hair follicle is an organ found in mammalian skin. It resides in the dermal layer of the skin and is made up of 20 different cell types, each with distinct functions. The hair follicle regulates hair growth via a complex interaction betwee ...s. Mutations in the gene encoding this protein are associated with the genetic skin disorders including pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. References External links GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita Further reading * * * * * * * * * * * * * * * * * * Keratins {{Gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 9
Keratin 9 is a protein that in humans is encoded by the ''KRT9'' gene. Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated epidermis of palm Palm most commonly refers to: * Palm of the hand, the central region of the front of the hand * Palm plants, of family Arecaceae ** List of Arecaceae genera **Palm oil * Several other plants known as "palm" Palm or Palms may also refer to: Music ...s and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma. References Further reading * * * * * * * * * * * * * * * * * * * Keratins {{Gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphylococcus aureus''. CF is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include Shortness of breath, difficulty breathing and coughing up mucus as a result of frequent pneumonia, lung infections. Other signs and symptoms may include Sinusitis, sinus infections, failure to thrive, poor growth, Steatorrhea, fatty stool, Nail clubbing, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies (alleles) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Cutaneous Medicine And Surgery
The ''Journal of Cutaneous Medicine and Surgery'' (abbreviated ''JCMS'') is a bimonthly peer-reviewed medical journal covering dermatology. It was established in 1996 and is published by SAGE Publications in collaboration with the Canadian Dermatology Association, of which it is the official journal. The editor-in-chief is Kirk Barber (University of Calgary). According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 2.092, ranking it 46th out of 69 journals in the category "Dermatology". References External links * Dermatology journals SAGE Publishing academic journals Academic journals established in 1996 English-language journals Bimonthly journals Academic journals associated with learned and ... [...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. Function Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 ( GJA1) is designated alpha-1 gap junction protein, whereas GJB1 (CX32), and GJB2 (CX26; this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that GJB1 and GJB2 are more homologous to each other than either of them is to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerodactyly
Sclerodactyly is a localized thickening and tightness of the skin of the fingers or toes that yields a characteristic claw-like appearance and spindle shape of the affected digits, and renders them immobile or of limited mobility. The thickened, discolored patches of skin are called morphea, and may involve connective tissue below the skin, as well as muscle and other tissues. Sclerodactyly is often preceded by months or even years by Raynaud's phenomenon when it is part of systemic scleroderma. The term "sclerodactyly" comes . It is generally associated with systemic scleroderma and mixed connective tissue disease, and auto-immune disorders. Sclerodactyly is one component of the limited cutaneous form of systemic sclerosis (lcSSc), also known as CREST syndrome (CREST is an acronym that stands for calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia.) Sclerodactyly is also one component of Huriez Syndrome, along with palmoplantar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmoplakin
Desmoplakin is a protein in humans that is encoded by the ''DSP'' gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury; striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus. Structure Desmoplakin exists as two predominant isoforms; the first, known as "DPII", has molecular weight 260.0 kDa (2272 amino acids) and the second, known as "DPI", has molecular weight 332.0 kDa (2871 amino acids). These isoforms are identical except for the shorter rod domain in DPII. DPI is the predomi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
