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  • Hidradenoma Wikipedia
    ., eds. (2010). "53. Tumours of the Skin Appendages: Eccrine or aprocrine/follicular tumours". Rook's Textbook of Dermatology (8th ed.). Chichester, West Sussex: John Wiley & Sons Ltd. ISBN  978-1-4051-6169-5 . ^ Griffiths C, Cox N, Breathnach S, et al., eds. (2010). "53. ... Rook's Textbook of Dermatology (8th ed.). Chichester, West Sussex: John Wiley & Sons Ltd.
    CEACAM5, EWSR1, MME, POU5F1, S100A6, VIM, PAX8, NAPSA, CRTC3, MAML2
  • Hypermobility (Joints) Wikipedia
    As no genetic test can identify or separate either conditions and because of the similarity of the diagnostic criteria and recommended treatments, many experts recommend they should be recognized as the same condition until further research is carried out.[4][5] In 2016 the diagnostic criteria for EDS Type 3 were re-written to be more restrictive, with the intent of narrowing the pool of EDS Type 3 patients in the hope of making it easier to identify a common genetic mutation, EDS Type 3 being the only EDS variant without a diagnostic DNA test. ... EDS has numerous sub-types; most include hypermobility in some degree. When hypermobility is the main symptom, then EDS/hypermobility type is likely. ... Retrieved 2016-12-02. ^ "Hypermobility Syndromes Association » JHS v EDS Hypermobility- Same Thing?". ... Retrieved 2016-11-24. ^ "Ehlers Danlos UK - JHS vs EDS". www.ehlers-danlos.org.
    • Ligamentous Laxity Wikipedia
      Ligamentous laxity Hypermobile finger Specialty Orthopaedics Ligamentous laxity, or ligament laxity, means loose ligaments. Ligamentous laxity is a cause of chronic body pain characterized by loose ligaments. When this condition affects joints in the entire body, it is called generalized joint hypermobility, which occurs in about ten percent of the population, and may be genetic. Loose ligaments can appear in a variety of ways and levels of severity. It also does not always affect the entire body. One could have loose ligaments of the feet, but not of the arms.
  • Dissociative Disorder Wikipedia
    . ^ a b Diagnostic and statistical manual of mental disorders : DSM-5 (5th ed.). ... (eds.). The American Psychiatric Publishing Board Review Guide for Psychiatry (7th ed.). ... B., Tasman, A., eds. Psychiatry. 4th ed. Chichester, UK: John Wiley & Sons; 2015. p1187. ... Diagnostic and Statistical Manual of Mental Disorders (DSM-5®) (5th ed.). ... Rediscovering Pierre Janet (1 ed.). Routledge. pp. 178–199. doi:10.4324/9780429201875-14.
    BDNF, COMT, FMR1, RHO, WNT1, CLDN1
  • Gray Baby Syndrome Wikipedia
    . ^ a b c Ed, Cummings; Ma, Edens (2020). "Gray Baby Syndrome". PubMed. ... Retrieved 2020-07-27. ^ Brunton, Laurence L.; Lazo, John S.; Parker, Keith, eds. (2005). ... Goodman & Gilman's The Pharmacological Basis of Therapeutics (11th ed.). ... Feigin RD, Cherry JD, Demmler-Harrison GJ, Kaplan SL, eds. (2009). "Ch.248. ... Feigin & Cherry's textbook of pediatric infectious diseases (6th ed.).
  • Ichthyosis Linearis Circumflexa Wikipedia
    Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ... Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
    SPINK5, ST14, KLK5, KLK7, FLG, NPHS1, DSG1, ELANE, VEGFA, NPHS2, POU5F1P3, SOCS5, PTGS2, PTPN11, SPINK1, DEFB4B, STAT3, TGM1, TNF, SOCS3, IVNS1ABP, MERTK, IL17F, SUB1, PTH, POU5F1P4, IL36B, IGHV1-12, ICOS, KLK14, IL22, NLRX1, IL33, APP, POU5F1, KLK6, GH1, BTD, CDSN, CCR5, CTRL, ACE, DEFB4A, DRD4, EPO, ERBB2, FLNA, GBA, GBAP1, GPT, AVP, GYPA, GYPB, GYPE, HRAS, ICAM1, IFNG, IL17A, IVL, KRAS, MIF, COX2, PI3, MTCO2P12
    • Netherton Syndrome Omim
      A number sign (#) is used with this entry because of evidence that Netherton syndrome (NETH) is caused by homozygous or compound heterozygous mutation in the SPINK5 gene (605010), encoding the serine protease inhibitor LEKTI, on chromosome 5q32. Description Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia.
    • Netherton Syndrome Medlineplus
      Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive).
    • Netherton Syndrome Orphanet
      Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. Epidemiology Incidence is estimated at 1/200,000 births. Clinical description Patients generally present at birth with generalized erythroderma and scaling, and failure to thrive. Frequent complications include hypernatremic dehydration, recurrent infections, and diarrhea and intestinal malabsorption. The disease course is heterogeneous: the generalized erythroderma may persist in some patients, but more frequently it evolves during childhood into ichthyosis linearis circumflexa (ILC). ILC is a milder and highly characteristic skin disorder marked by migratory erythematous plaques with a double-edged scale.
    • Netherton Syndrome Wikipedia
      Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 496. McGraw-Hill.
    • Netherton Syndrome Gard
      Netherton disease is a rare disorder affecting the skin, hair and immune system. Symptoms are present at birth and include red, scaly skin. Other symptoms include outbreaks of red, circular scaly rashes, thin, fragile hair (bamboo hair), and immune reactions such as hay fever, asthma, itchy skin, and eczema. Dehydration and infection are common and can be serious. Babies tend to grow slowly and have poor weight gain. Netherton syndrome is caused by the SPINK5 gene not working correctly. It is inherited in an autosomal recessive pattern. Netherton syndrome is diagnosed based on clinical examination, the symptoms, and genetic testing.
  • Contiguous Gene Syndrome Wikipedia
    Human Molecular Genetics (4th ed.). New York: Garland Science. pp. 427–428. ^ a b Shaffer, Lisa G.; Ledbetter, David H.; Lupski, James R. (2004). ... (eds.). Metabolic and Molecular Bases of Inherited Disease (8th ed.).
    PKD1, PAX6, WT1, KANSL1, TSC2, NR0B1, HTC2, CREBBP, IL1RAPL1, SHANK3, OPN1LW, RPGR, SCN8A, STK11, STXBP1, TBX1, UPK3A, TWIST1, PCBP4, PRKD1, MAMLD1, SPRY2, RAI1, KCNE5, RPS6KA6, CHD7, PAG1, PRODH, ACVRL1, POU3F4, GPC5, ASCL1, ATR, FOXL2, RUNX1, CRKL, CYBB, EIF4E, ENG, EXT1, GLI3, PDK1, HBA1, HBA2, HOXA@, IGF1, MAOB, MBP, MFAP4, MSX2, NF1, MIR17HG
  • Iga Pemphigus Wikipedia
    ., eds. (2003). Fitzpatrick's dermatology in general medicine (6th ed.). ... Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
    DSC1
    • Iga Pemphigus Orphanet
      A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.
  • Fecal–oral Route Wikipedia
    (eds.). Shigella in: Baron's Medical Microbiology (4th ed.). Univ of Texas Medical Branch. ... (eds.). Salmonella:Epidemiology in: Baron's Medical Microbiology (4th ed.). ... (eds.). Cholera, Vibrio cholerae O1 and O139, and Other Pathogenic Vibrios in: Baron's Medical Microbiology (4th ed.). ... (eds.). Hepatitis Viruses in: Baron's Medical Microbiology (4th ed.). ... (eds.). Other Intestinal Protozoa and Trichomonas Vaginalis in: Baron's Medical Microbiology (4th ed.).
  • Chondrodermatitis Nodularis Chronica Helicis Wikipedia
    Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ... Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
  • Onychomatricoma Wikipedia
    ., eds. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.).
  • Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 Omim
    Biochemical Features Giunta et al. (2008) found that all 6 patients with a spondylocheirodysplastic form of EDS had an increased lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP) ratio indicating underhydroxylation of collagen. The ratio in patients (mean 0.89 +/- 0.18) was lower than that in individuals with EDS VI (225400; mean 5.97 +/- 0.99) but markedly higher than that in controls (mean 0.19 +/- 0.02). ... Mapping By a genomewide SNP scan and linkage analysis, Giunta et al. (2008) defined a 16.9-Mb critical region for SCD-EDS on chromosome 11 between markers D11S1779 and D11S4191 (combined maximum lod score of 5.3). Molecular Genetics In all 6 affected members of 2 families with spondylocheirodysplastic EDS, Giunta et al. (2008) identified homozygosity for a 9-bp in-frame deletion in exon 4 of the membrane-bound zinc transporter SLC39A13 (608735.0001).
    SLC39A13
    • Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome Orphanet
      A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications.
  • Pyramidal Signs Wikipedia
    Principles of Neurological Surgery (Fourth ed.). doi:10.1016/B978-0-323-43140-8.00003-2. ... Further reading[edit] Nevšímaová, Růžička, Tichý (2005), Neurologie (book), yes (1st ed.), ISBN  80-7262-160-2 CS1 maint: multiple names: authors list (link) Jedlička, Keller (2005), Speciální neurologie (book), yes (1st ed.), ISBN  80-7262-312-5 Ambler (2011), Základy neurologie (book) (7th ed.), ISBN  978-80-7262-707-3
    SETX, SIGMAR1, LMNB1, CYP27A1, BSCL2, ADAR, SAMHD1, CAMTA1, ETHE1, ATXN10, RTTN, MLH3, TREX1, COQ2, GMPPB, POMT2, RRM2B, NDUFA13, FAN1, POMT1, ERLIN2, SQSTM1, RNF113A, GAN, ADD3, PLA2G6, PRKRA, SYNJ1, CTDP1, ERAP1, AIMP1, DNAJC6, DNM1L, BCAP31, SLC25A15, RNASEH2A, SPG21, TMEM106B, TLR4, VWA3B, COA8, NKX6-2, FAM126A, MPLKIP, TTBK2, IL23R, RNASEH1, VPS13C, NALCN, UBAC2, NDUFS7, GTF2H5, ATXN8, SNORD118, POMK, RNASEH2C, CLPB, SPG11, CTC1, PANK2, L2HGDH, RNASEH2B, FKRP, SEMA4A, IFIH1, ALS2, SLC12A5, TBC1D24, MYORG, COQ8A, POMGNT1, TTPA, KLRC4, MAPT, KARS1, GTF2E2, HTT, HLA-B, IDUA, IL10, IL12A, KCNC3, NDUFS2, KRAS, EPCAM, TGFBR2, MEFV, MLH1, MSH2, MSH6, GRM1, GM2A, GBE1, FUS, FUCA1, EXT2, EXT1, ERCC3, ERCC2, EPRS1, CCR1, CAPN1, C4A, BMPR1A, FAS, ALDH3A2, NAGA, IL12A-AS1, PPP2R2B, PODXL, SLC2A1, SCN1B, SLC6A3, SOX10, PMS1, PLP1, PSMB8, RPS20, PIK3CA, STAT4, ELOVL4, PHYH, SURF1, PEX10, TBP, PEX7, ATXN8OS, PMS2, FBXO7, MAD2L1BP, SPTBN2, HSPB3, ATXN2, TMEM240, OPN1MW2, OPN1MW3, ATXN7, NEFL, OPN1MW, KIF1B, OPA1, ATXN3, PLEKHG4, LY6E, THG1L, KIF5A, ITPR1, SBF1, MORC2, HSPB2, HSPB1, HSD17B4, SACS, C19orf12, TPO
  • Carcinoma In Situ Wikipedia
    ., 2. ed.). Geneva: World Health Organization. p. 38. ISBN  9789241546492 . ^ J.@Saclarides, ed. by Jonathan A.@Myers, Keith W.@Millikan, Theodore (2008). Common surgical diseases an algorithmic approach to problem solving (2nd rev. ed.). ... "Head and Neck Tumors" in Pazdur R, Wagman LD, Camphausen KA, Hoskins WJ (Eds) Cancer Management: A Multidisciplinary Approach. 11 ed. 2008. ^ "Cancer Staging Fact Sheet".
  • Ophidiophobia Wikipedia
    (eds.). The Handbook of the Emotions (1st ed.). New York: Guilford Press. pp. 511–536. ... Emotions Revealed: Recognizing Faces and Feelings to Improve Communication and Emotional Life (Revised ed.). ... (ed.). The Handbook of Evolutionary Psychology (1st ed.). Hoboken, NJ: Wiley. pp. 911–913.
    POMC
  • Central Giant-Cell Granuloma Wikipedia
    (Ninth ed.). [Edinburgh]. ISBN  9780702049828 . OCLC 960030340. ^ a b Crispian., Scully (2008). Oral and maxillofacial medicine : the basis of diagnosis and treatment (2nd ed.). ... Scully, Crispian,, Almeida, Oslei Paes de,, Bagan, Jose,, Taylor, Adalberto Mosqueda,, Scully, Crispian, Preceded by (work) (Second ed.). ... (Third ed.). Edinburgh. ISBN  9780702046001 . OCLC 826658944. ^ a b Suárez-Roa, María de Lourdes; Reveiz, Ludovic; Ruíz-Godoy Rivera, Luz María; Asbun-Bojalil, Juan; Dávila-Serapio, José Eduardo; Menjívar-Rubio, Andrés H; Meneses-García, Abelardo (2009-10-07). ... Oral and maxillofacial diseases : an illustrated guide to diagnosis and management of diseases of the oral mucosa, gingivae, teeth, salivary glands, jaw bones and joints (4th ed.).
  • Imperforate Lacrimal Punctum Wikipedia
    (ed.) (1999). Veterinary Ophthalmology (3rd ed.). Lippincott, Williams & Wilkins.
  • Nevus Comedonicus Wikipedia
    Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ... Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.
    NEK9, IL6, AKT1, SRD5A2, MIR511, PCSK9, ASXL1, ABCA12, MCF2L, JMJD6, PRSS21, VEGFA, TOP2A, TOP1, TNFAIP6, TNF, SKP2, BAX, CCL4, PTH, POMC, PECAM1, OPRL1, LRP2, KRT15, KRT10, IL7R, CYP21A2, CASP3, BCL2, MIR146B
    • Nevus Comedonicus Omim
      A number sign (#) is used with this entry because of evidence that nevus comedonicus (NC) is caused by somatic mutation in the NEK9 gene (609798) on chromosome 14q24. Description Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses.
    • Nevus Comedonicus Syndrome Wikipedia
      Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ... Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.
    • Nevus Comedonicus Syndrome Orphanet
      A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.
  • Crenated Tongue Wikipedia
    Tyldesley's Oral medicine (5th ed.). Oxford: Oxford University Press. p. 195. ... Color atlas of oral diseases (3. ed., rev. and expanded. ed.). Stuttgart [u.a.]: Thieme. p. 126. ... ISBN  9780191585029 . ^ Heasman P, ed. (2008). Master Dentistry Vol I: Restorative dentistry, paediatric dentistry and orthodontics (2nd ed.). ... Ergil, eds. (2009). Pocket Atlas of Chinese Medicine. Thieme. ISBN  9783131416117 . ^ McCabe, Vinton (24 February 2011).
  • Grass Tetany Wikipedia
    (ed.). The ruminant animal: digestive physiology and nutrition. Prentice-Hall, Englewood Cliffs, N. ... (ed.) 2005. Merck veterinary manual. 9th Ed. Merck & Co., Inc., Whitehouse Station. ^ Rendig, V. ... Grunes (eds.) 1979. Grass tetany. ASA Spec. Publ. 35, Am. Soc. Agron., Madison, Wisc. 175 pp. ^ Mehren, M. ... Krankheiten des Rindes (2nd ed.). Berlin: Verlag Paul Parey. pp. 1024–1037 (Weidetetanie). ... Veterinary Medicine (5th ed.). London: Baillière Tindall. pp. 841–847 (Lactation Tetany).
  • Cervical Lymphadenopathy Wikipedia
    If still no primary tumor is detected, the term "occult primary" is used.[8] In lymphoma, usually there are multiple enlarged nodes which feel rubbery to palpation.[8] Rhabdomyosarcoma Neuroblastoma Other causes[edit] Surgical trauma, e.g. following a biopsy in the mouth[4] Kawasaki disease,[5] Kikuchi-Fujimoto disease Rosai-Dorfman disease Castleman disease sarcoidosis[1] Lupus erythematosus[7] Cyclic neutropenia[5] Orofacial granulomatosis[10] Diagnosis[edit] In possible malignancy, it is routine to perform a throat examination including mirror and/or endoscopy.[11] On ultrasound, B-mode imaging depicts lymph node morphology, whilst power Doppler can assess the vascular pattern.[12] B-mode imaging features that can distinguish metastasis and lymphoma include size, shape, calcification, loss of hilar architecture, as well as intranodal necrosis.[12] Soft tissue edema and nodal matting on B-mode imaging suggests tuberculous cervical lymphadenitis or previous radiation therapy.[12] Serial monitoring of nodal size and vascularity are useful in assessing treatment response.[12] Fine needle aspiration cytology (FNAC) has a sensitivity and specificity percentages of 81% and 100%, respectively, in the histopathology of malignant cervical lymphadenopathy.[11] PET-CT has proven to be helpful in identifying occult primary carcinomas of the head and neck, especially when applied as a guiding tool prior to panendoscopy, and may induce treatment related clinical decisions in up to 60% of cases.[11] References[edit] ^ a b c d e f g h i j k l m Kerawala C, Newlands C, eds. (2010). ... Contemporary oral and maxillofacial surgery (5th ed.). St. Louis, Mo.: Mosby Elsevier. pp. 428–30. ... Oral and maxillofacial medicine : the basis of diagnosis and treatment (2nd ed.). ... Oxford handbook of dental patient care, the essential guide to hospital dentistry (2nd ed.). ... ISBN  9780198566236 . ^ a b c Odell EW, ed. (2010). Clinical problem solving in dentistry (3rd ed.).
    INHBA, SH3BP2, SLC29A3, MT1JP, PIK3CD, PPP3R1, PHB2, SMUG1, PART1, NCAPG2, SIL1
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