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Hyperaldosteronism, Familial, Type Iii
Omim
Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguished this clinical syndrome from glucocorticoid-remediable aldosteronism (GRA; 103900), another autosomal dominant form of HTN, and suggested a global defect in the regulation of adrenal steroid production. ... The patient was 1 of 21 patients with a phenotype resembling Andersen-Tawil syndrome (LQT7; 170390) who did not carry a mutation in the KCNJ2 gene (600681).
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Pleomorphic Adenoma
Wikipedia
However, if complete resection cannot be achieved, adjuvant radiotherapy should be added to improve local control. [9] [10] This surgical treatment has many sequellae such as cranial nerve damage, Frey's syndrome , cosmetic problems, etc. Usually about 44% of the patients have a complete histologic removal of the tumor and this refers to the most significant survival rate. ... External links [ edit ] Classification D ICD - 10 : D11 ICD - 9-CM : 210.2 ICD-O : 8940/0 OMIM : 181030 MeSH : D008949 External resources eMedicine : radio/531 v t e Connective / soft tissue tumors and sarcomas Not otherwise specified Soft-tissue sarcoma Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma / fibrosarcoma : Dermatofibrosarcoma protuberans Desmoplastic fibroma Fibroma / fibromatosis : Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Histiocytoma / histiocytic sarcoma : Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor Myxomatous Myxoma / myxosarcoma Cutaneous myxoma Superficial acral fibromyxoma Angiomyxoma Ossifying fibromyxoid tumour Fibroepithelial Brenner tumour Fibroadenoma Phyllodes tumor Synovial -like Synovial sarcoma Clear-cell sarcoma Lipomatous Lipoma / liposarcoma Myelolipoma Myxoid liposarcoma PEComa Angiomyolipoma Chondroid lipoma Intradermal spindle cell lipoma Pleomorphic lipoma Lipoblastomatosis Spindle cell lipoma Hibernoma Myomatous general: Myoma / myosarcoma smooth muscle : Leiomyoma / leiomyosarcoma skeletal muscle : Rhabdomyoma / rhabdomyosarcoma : Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma Leiomyoma Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP Complex mixed and stromal Adenomyoma Pleomorphic adenoma Mixed Müllerian tumor Mesoblastic nephroma Wilms' tumor Malignant rhabdoid tumour Clear-cell sarcoma of the kidney Hepatoblastoma Pancreatoblastoma Carcinosarcoma Mesothelial Mesothelioma Adenomatoid tumor v t e Tumors of lip , oral cavity and pharynx / head and neck cancer Oral cancer Salivary gland malignant epithelial tumors Acinic cell carcinoma Mucoepidermoid carcinoma Adenoid cystic carcinoma Salivary duct carcinoma Epithelial-myoepithelial carcinoma Polymorphous low-grade adenocarcinoma Hyalinizing clear cell carcinoma benign epithelial tumors Pleomorphic adenoma Warthin's tumor ungrouped: Oncocytoma Tongue Leukoplakia Rhabdomyoma OropharynxHMGA2, PLAG1, TP53, ERBB2, CDKN2A, CTNNB1, MDM2, BCL2, CCND1, AR, ETV6, HRAS, PTGS2, IL6, MOS, STAT3, KDR, GFAP, IGF1, EGFR, NQO1, VIM, WIF1, WNT1, CDK4, VEGFA, CRTC1, H3P10, PCNA, MTCO2P12, GADL1, COX2, MMP9, PDGFRA, MAML2, AZIN2, NTRK3, TYK2, S100B, TPM3, SRC, S100A1, SLC2A1, TRIM27, PTEN, BSND, CXCL12, SLC20A1, SLC5A5, TP73, FSCN1, TNXB, TIMP2, TGFB1, TGFA, TFE3, TERT, SOX2, SOX10, CXCR4, TBX5, KEAP1, GDF5, MIR195, FSD1, RHBDF2, PPP1R2C, ARHGAP24, IL33, HMSD, MIR132, MIR17, MIR20A, AXIN1, MIR21, MIR221, MIR34A, DEFB103A, DEFA1A3, DEFA1B, CD24, DEFB4B, CHCHD7, CRTC3, XYLT2, XYLT1, AXIN2, NCOA1, HSPB3, NCOR1, POU1F1, CNMD, RASSF1, FBXW11, INTS1, B3GAT1, HPGDS, IGHV1-12, CD274, LEF1, ANO1, DEFB103B, ACKR3, PRKD1, ALCAM, PLAGL2, PIK3CA, CASP3, CASP8, RUNX3, CCNA2, CD44, CDH1, CDH11, CENPF, DAPK1, DDIT3, DEFA1, DEFA4, DEFB1, DEFB4A, EGF, EIF4E, FASN, SLC25A20, CA2, BUB1, STS, ALK, ANXA2, APC, APEX1, BIRC2, BIRC3, XIAP, BAD, BRAF, BAX, BCR, BGLAP, BMP2, BMP6, BMP7, BRCA1, FGFR1, FGFR2, FLT1, MYBL1, LUM, SMAD4, MGMT, MLH1, MMP2, MSH2, MYB, NFE2L2, LIFR, NFIB, ALDH3A1, NOS2, NTRK1, PRDX1, PDGFA, PHF1, LRPAP1, LEP, FPR2, HPRT1, GABPA, GLI1, GLI2, GUCA2A, HIF1A, HMGA1, HOXB9, HSPB1, KRT13, HSPB2, HTC2, IL10, ING1, JAK2, KIT, KRAS, NOS1
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Krukenberg Tumor
Wikipedia
External links [ edit ] Classification D ICD - 10 : C56 ICD - 9-CM : 183 ICD-O : 8490/6 MeSH : D007725 DiseasesDB : 30081 00498 at CHORUS v t e Glandular and epithelial cancer Epithelium Papilloma / carcinoma Small-cell carcinoma Combined small-cell carcinoma Verrucous carcinoma Squamous cell carcinoma Basal-cell carcinoma Transitional cell carcinoma Inverted papilloma Complex epithelial Warthin's tumor Thymoma Bartholin gland carcinoma Glands Adenomas / adenocarcinomas Gastrointestinal tract: Linitis plastica Familial adenomatous polyposis pancreas Insulinoma Glucagonoma Gastrinoma VIPoma Somatostatinoma Cholangiocarcinoma Klatskin tumor Hepatocellular adenoma / Hepatocellular carcinoma Urogenital Renal cell carcinoma Endometrioid tumor Renal oncocytoma Endocrine Prolactinoma Multiple endocrine neoplasia Adrenocortical adenoma / Adrenocortical carcinoma Hürthle cell Other/multiple Neuroendocrine tumor Carcinoid Adenoid cystic carcinoma Oncocytoma Clear-cell adenocarcinoma Apudoma Cylindroma Papillary hidradenoma Adnexal and skin appendage sweat gland Hidrocystoma Syringoma Syringocystadenoma papilliferum Cystic, mucinous, and serous Cystic general Cystadenoma / Cystadenocarcinoma Mucinous Signet ring cell carcinoma Krukenberg tumor Mucinous cystadenoma / Mucinous cystadenocarcinoma Pseudomyxoma peritonei Mucoepidermoid carcinoma Serous Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma Ductal, lobular, and medullary Ductal carcinoma Mammary ductal carcinoma Pancreatic ductal carcinoma Comedocarcinoma Paget's disease of the breast / Extramammary Paget's disease Lobular carcinoma Lobular carcinoma in situ Invasive lobular carcinoma Medullary carcinoma Medullary carcinoma of the breast Medullary thyroid cancer Acinar cell Acinic cell carcinoma v t e Tumors of the female urogenital system Adnexa Ovaries Glandular and epithelial / surface epithelial- stromal tumor CMS: Ovarian serous cystadenoma Mucinous cystadenoma Cystadenocarcinoma Papillary serous cystadenocarcinoma Krukenberg tumor Endometrioid tumor Clear-cell ovarian carcinoma Brenner tumour Sex cord–gonadal stromal Leydig cell tumour Sertoli cell tumour Sertoli–Leydig cell tumour Thecoma Granulosa cell tumour Luteoma Sex cord tumour with annular tubules Germ cell Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma / Struma ovarii Choriocarcinoma Fibroma Meigs' syndrome Fallopian tube Adenomatoid tumor Uterus Myometrium Uterine fibroids/leiomyoma Leiomyosarcoma Adenomyoma Endometrium Endometrioid tumor Uterine papillary serous carcinoma Endometrial intraepithelial neoplasia Uterine clear-cell carcinoma Cervix Cervical intraepithelial neoplasia Clear-cell carcinoma SCC Glassy cell carcinoma Villoglandular adenocarcinoma Placenta Choriocarcinoma Gestational trophoblastic disease General Uterine sarcoma Mixed Müllerian tumor Vagina Squamous-cell carcinoma of the vagina Botryoid rhabdomyosarcoma Clear-cell adenocarcinoma of the vagina Vaginal intraepithelial neoplasia Vaginal cysts Vulva SCC Melanoma Papillary hidradenoma Extramammary Paget's disease Vulvar intraepithelial neoplasia Bartholin gland carcinoma v t e Digestive system neoplasia GI tract Upper Esophagus Squamous cell carcinoma Adenocarcinoma Stomach Gastric carcinoma Signet ring cell carcinoma Gastric lymphoma MALT lymphoma Linitis plastica Lower Small intestine Duodenal cancer Adenocarcinoma Appendix Carcinoid Pseudomyxoma peritonei Colon/rectum Colorectal polyp : adenoma , hyperplastic , juvenile , sessile serrated adenoma , traditional serrated adenoma , Peutz–Jeghers Cronkhite–Canada Polyposis syndromes: Juvenile MUTYH-associated Familial adenomatous / Gardner's Polymerase proofreading-associated Serrated polyposis Neoplasm: Adenocarcinoma Familial adenomatous polyposis Hereditary nonpolyposis colorectal cancer Anus Squamous cell carcinoma Upper and/or lower Gastrointestinal stromal tumor Krukenberg tumor (metastatic) Accessory Liver malignant : Hepatocellular carcinoma Fibrolamellar Hepatoblastoma benign : Hepatocellular adenoma Cavernous hemangioma hyperplasia : Focal nodular hyperplasia Nodular regenerative hyperplasia Biliary tract bile duct : Cholangiocarcinoma Klatskin tumor gallbladder : Gallbladder cancer Pancreas exocrine pancreas : Adenocarcinoma Pancreatic ductal carcinoma cystic neoplasms : Serous microcystic adenoma Intraductal papillary mucinous neoplasm Mucinous cystic neoplasm Solid pseudopapillary neoplasm Pancreatoblastoma Peritoneum Primary peritoneal carcinoma Peritoneal mesothelioma Desmoplastic small round cell tumor
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Latent Iron Deficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : E61.1 v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight
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Radiation Enteropathy
Wikipedia
Radiation enteropathy Other names Radiation enteritis, pelvic radiation disease Specialty Gastroenterology , surgery , oncology Symptoms Diarrhea, abdominal pain, nausea, vomiting, anorexia and malaise Complications Stricture formation, malabsorption Usual onset Acute: several weeks after radiation Chronic: 8-12 months after radiation Radiation enteropathy is a syndrome that may develop following abdominal or pelvic radiation therapy for cancer . [1] [2] Many affected people are cancer survivors who had treatment for cervical cancer or prostate cancer ; it has also been termed pelvic radiation disease with radiation proctitis being one of the principal features. [3] Contents 1 Signs and symptoms 1.1 Associated conditions 2 Causes 3 Pathology 3.1 Acute intestinal injury 3.2 Long-term effects of radiation 4 Diagnosis 5 Prevention 6 Treatment 7 Prevalence 8 Research 9 References 10 External links Signs and symptoms [ edit ] People who have been treated with radiotherapy for pelvic and other abdominal cancers frequently develop gastrointestinal symptoms. [3] [1] [2] These include: rectal bleeding diarrhea and steatorrhea other defecation disorders including fecal urgency and incontinence . nutritional deficiencies and weight loss abdominal pain and bloating nausea , vomiting and fatigue Gastrointestinal symptoms are often found together with those in other systems including genitourinary disorders and sexual dysfunction . ... However, as the parts of the intestine such as the ileum and the rectum are immediately adjacent to the cancers, it is impossible to avoid some radiation effects. [1] Previous intestinal surgery, obesity, diabetes, tobacco smoking and vascular disorders increase the chances of developing enteropathy. [1] Pathology [ edit ] Acute intestinal injury [ edit ] See also: Acute radiation syndrome Early radiation enteropathy is very common during or immediately after the course of radiotherapy.
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Stinger (Medicine)
Wikipedia
.; Hecht, Andrew C. (2010-12-01). "Burner Syndrome and Cervical Cord Neuropraxia" . ... American Family Physician , 1 Nov. 1999, https://www.aafp.org/afp/1999/1101/p2035.html. ^ Qureshi, Sheeraz A.; Hecht, Andrew C. (2010-12-01). "Burner Syndrome and Cervical Cord Neuropraxia" .
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Splenic Marginal Zone Lymphoma
Wikipedia
External links [ edit ] Classification D ICD - 9-CM : 200.3 ICD-O : M9689/3 v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemiasTP53, NOTCH2, BRAF, CCND1, IGH, MYD88, BIRC3, BCL2, LOC102724971, LOC102723407, KLF2, IGHV3-69-1, IGHV1-2, FCER2, IRF5, KRT20, MALT1, TLR9, TNFAIP3, IKBKB, TCL1A, MS4A1, ZNF608, MIB1, BHLHE40, TCL1B, KMT2B, FAM72A, FAM72B, MIR26B, PDE10A, MIR223, SMUG1, FOXP1, B3GAT1, SGSM3, IGHV3OR16-7, IGHV4-39, MIR182, IGHV3-52, IGHV3-21, MIR16-1, IGHV1-69, MIR15A, IGKV3-20, SLC35B2, TLR7, CYP4V2, ARID1A, CENPX, AMOTL1, SMYD1, POLE3, TGFB1, CLLS2, CDK6, IFNA13, IFNA1, CXCR3, FUT4, ERCC3, EPHB2, CREBBP, CD38, ISG20, TNFRSF8, CD80, CD22, CCND2, SERPING1, BTK, BCL6, IL2RA, LTB, KMT2D, PTPRC, TRAF3, TERT, SYK, SOX11, SLC22A2, SLC7A4, RB1, MAPK1, MME, POU2F2, PLAT, PIK3CD, PAX5, NOTCH1, NFKB2, NCAM1, H3P11
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Vulnerable Plaque
Wikipedia
Some of the CT derived plaque characteristics can help predict for acute coronary syndrome. [7] In addition, because these lesions do not produce significant stenoses, they are typically not considered "critical" and/or interventionable by interventional cardiologists, even though research indicates that they are the more important lesions for producing heart attacks. ... "Additive value of semi-automated quantification of coronary artery disease using cardiac CT-angiography to predict for future acute coronary syndrome" . J Am Coll Cardiol . 61 (22): 2296–2305. doi : 10.1016/j.jacc.2013.02.065 .
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Pulmonary Toxicity
Wikipedia
They can include lung inflammation ( pneumonitis ), secondary (in this context, indirectly caused) lung infection ( pneumonia ), lung fibrosis , organising pneumonia (bronchiolitis obliterans organising pneumonia, BOOP ), ARDS (acute respiratory distress syndrome), solitary pulmonary mass (even including lung cancer in some cases, mainly in cases of asbestos-related lung disease, but today this is very rare, because asbestos is now completely prohibited by law in most countries), or lung nodule . ... AIPT may manifest as chronic interstitial pneumonitis, organising pneumonia, acute respiratory distress syndrome, pulmonary mass, or nodules . On radiological imaging, pulmonary infiltrates induced by amiodarone are usually high in attenuation.
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Ulcer (Dermatology)
Wikipedia
External links [ edit ] Classification D ICD - 10 : L88 - L89 ICD - 9-CM : 707.00 MeSH : D012883 DiseasesDB : 26839 v t e Skin lesion terminology Macroscopic Primary lesions flat Macule Patch elevated Papule Nodule Plaque fluid Vesicle Bulla Pustule Ulcer Erosion Telangiectasia Special initial lesions : Burrow Tunnel Comedo Scutulum Target lesion Herald patch Wheal Secondary lesions Scale Crust Lichenification Excoriation Induration Atrophy Microscopic keratin : Hyperkeratosis Parakeratosis Dyskeratosis Hypergranulosis Acanthosis Papillomatosis Acantholysis Spongiosis Hydropic swelling Exocytosis Vacuolization Erosion Ulceration Lentiginous v t e Cutaneous keratosis, ulcer, atrophy, and necrobiosis Epidermal thickening keratoderma : Keratoderma climactericum Paraneoplastic keratoderma Acrokeratosis paraneoplastica of Bazex Aquagenic keratoderma Drug-induced keratoderma psoriasis Keratoderma blennorrhagicum keratosis : Seborrheic keratosis Clonal seborrheic keratosis Common seborrheic keratosis Irritated seborrheic keratosis Seborrheic keratosis with squamous atypia Reticulated seborrheic keratosis Dermatosis papulosa nigra Keratosis punctata of the palmar creases other hyperkeratosis : Acanthosis nigricans Confluent and reticulated papillomatosis Callus Ichthyosis acquisita Arsenical keratosis Chronic scar keratosis Hyperkeratosis lenticularis perstans Hydrocarbon keratosis Hyperkeratosis of the nipple and areola Inverted follicular keratosis Lichenoid keratosis Multiple minute digitate hyperkeratosis PUVA keratosis Reactional keratosis Stucco keratosis Thermal keratosis Viral keratosis Warty dyskeratoma Waxy keratosis of childhood other hypertrophy: Keloid Hypertrophic scar Cutis verticis gyrata Necrobiosis / granuloma Necrobiotic/palisading Granuloma annulare Perforating Generalized Subcutaneous Granuloma annulare in HIV disease Localized granuloma annulare Patch-type granuloma annulare Necrobiosis lipoidica Annular elastolytic giant-cell granuloma Granuloma multiforme Necrobiotic xanthogranuloma Palisaded neutrophilic and granulomatous dermatitis Rheumatoid nodulosis Interstitial granulomatous dermatitis / Interstitial granulomatous drug reaction Foreign body granuloma Beryllium granuloma Mercury granuloma Silica granuloma Silicone granuloma Zirconium granuloma Soot tattoo Tattoo Carbon stain Other/ungrouped eosinophilic dermatosis Granuloma faciale Dermis / localized CTD Cutaneous lupus erythematosus chronic: Discoid Panniculitis subacute : Neonatal ungrouped: Chilblain Lupus erythematosus–lichen planus overlap syndrome Tumid Verrucous Rowell's syndrome Scleroderma / Morphea Localized scleroderma Localized morphea Morphea–lichen sclerosus et atrophicus overlap Generalized morphea Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma Atrophic / atrophoderma Lichen sclerosus Anetoderma Schweninger–Buzzi anetoderma Jadassohn–Pellizzari anetoderma Atrophoderma of Pasini and Pierini Acrodermatitis chronica atrophicans Semicircular lipoatrophy Follicular atrophoderma Linear atrophoderma of Moulin Perforating Kyrle disease Reactive perforating collagenosis Elastosis perforans serpiginosa Perforating folliculitis Acquired perforating dermatosis Skin ulcer Pyoderma gangrenosum Other Calcinosis cutis Sclerodactyly Poikiloderma vasculare atrophicans Ainhum / Pseudo-ainhumLAMA3, PEPD, ITGB2, NGF, TERC, TAP1, TAP2, TAPBP, MLX, AK2, TERT, STAT3, WAS, WIPF1, WRN, IKBKG, TNFRSF1B, SPTA1, SPTB, NOTCH3, SLC4A1, PTH1R, PRTN3, PROS1, PKP1, PGM3, PDGFRB, PDGFB, PARN, OCRL, TP63, PSTPIP1, PIGL, SPTLC2, TRPV3, ANTXR2, IL17F, HAVCR2, IL17RC, DOCK8, CTC1, KIAA0319L, USB1, CYBC1, CLEC7A, NOD2, PERP, NHP2, SLC39A4, NOP10, WRAP53, DLL4, RTEL1, MBTPS2, TINF2, PTPN22, IL17RA, TREX1, GJB6, TRAF3IP2, BMS1, NTRK1, NCF1, NOTCH2, KRT10, KIF11, IL12B, CCN2, CTLA4, CYBA, CYBB, DKC1, EPB42, IDH2, IDH1, HLA-DRB1, HLA-DPB1, HLA-DPA1, HLA-B, HBB, GNAQ, GJB2, KRT1, IRF5, GBE1, ANK1, AQP5, COL3A1, NCF4, NCF2, LBR, BTK, LMNA, COL1A1, CCR6, CAV1, LYST, CD28, WNT10A, VEGFA, CXCL8, IFIH1, GAST, SIRT1, CRP, GALNS, WNK1, PAGR1, GABPA, CNOT1, EGF, ATP2C1, GRHL2, FCGR2A, CD1A, AFAP1L2, COL17A1, NR1I2, PUF60, SMN1, NFE2L2, PCNA, PECAM1, NCAM1, MMP9, PIK3CA, PIK3CB, PIK3CD, ANGPT1, MET, PLG, MDM2, CXCL12, LAD1, SMN2, GCG, SNRNP70, SOD1, IL2, IGF1, IFNA13, TFAP2A, TIMP1, TIMP2, IFNA1, OGT, NOS3, MSC, HGF, SFI1, PIK3CG
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Liver Injury
Wikipedia
External links [ edit ] Classification D ICD - 10 : S36.1 ICD - 9-CM : 864 v t e Nonmusculoskeletal injuries of abdomen and pelvis Abdomen / GI Ruptured spleen Blunt splenic trauma Traumatic diaphragmatic hernia Gastrointestinal perforation Liver injury Pancreatic injury Pelvic Uterine perforation Penile fracture v t e Trauma Principles Polytrauma Major trauma Traumatology Triage Resuscitation Trauma triad of death Assessment Clinical prediction rules Revised Trauma Score Injury Severity Score Abbreviated Injury Scale NACA score Investigations Diagnostic peritoneal lavage Focused assessment with sonography for trauma Management Principles Advanced trauma life support Trauma surgery Trauma center Trauma team Damage control surgery Early appropriate care Procedures Resuscitative thoracotomy Pathophysiology Injury MSK Bone fracture Joint dislocation Degloving Soft tissue injury Resp Flail chest Pneumothorax Hemothorax Diaphragmatic rupture Pulmonary contusion Cardio Internal bleeding Thoracic aorta injury Cardiac tamponade GI Blunt kidney trauma Ruptured spleen Neuro Penetrating head injury Traumatic brain injury Intracranial hemorrhage Mechanism Blast injury Blunt trauma Burn Penetrating trauma Crush injury Stab wound Ballistic trauma Electrocution Region Abdominal trauma Chest trauma Facial trauma Head injury Spinal cord injury Demographic Geriatric trauma Pediatric trauma Complications Posttraumatic stress disorder Wound healing Acute lung injury Crush syndrome Rhabdomyolysis Compartment syndrome Contracture Volkmann's contracture Embolism air fat Chronic traumatic encephalopathy Subcutaneous emphysema
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Porokeratosis 3, Multiple Types
Omim
Two of the mutations, G202R (251170.0010) and 417insC (251170.0012), had previously been identified in patients with hyper-IgD syndrome (260920) and mevalonic aciduria (610377). ... Although porokeratosis lesions have not been reported in individuals with mevalonic aciduria, some cases with hyper-IgD syndrome can have transient inflammatory skin lesions.
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Fructose Intolerance, Hereditary
Omim
Jaeken et al. (1996) investigated the serum lysosomal enzymes beta-hexosaminidase (HEXA; 606869) and beta-glucuronidase (GUSB; 611499) in 2 patients with hereditary fructose intolerance and found abnormalities identical to those in carbohydrate-deficient glycoprotein syndrome type I (see CDGIb; 602579), but different from those in untreated galactosemia (230400). ... Her second child also had fructose intolerance and died at age 5 years from acquired immunodeficiency syndrome contracted from a neonatal blood transfusion.
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Leiomyosarcoma
Wikipedia
External links [ edit ] Gastrointestinal Stromal Tumors at eMedicine Classification D ICD - 10 : C49 .M48 ICD-O : M8890/3 MeSH : D007890 DiseasesDB : 34362 External resources MedlinePlus : 000916 eMedicine : med/1180 v t e Connective / soft tissue tumors and sarcomas Not otherwise specified Soft-tissue sarcoma Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma / fibrosarcoma : Dermatofibrosarcoma protuberans Desmoplastic fibroma Fibroma / fibromatosis : Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Histiocytoma / histiocytic sarcoma : Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor Myxomatous Myxoma / myxosarcoma Cutaneous myxoma Superficial acral fibromyxoma Angiomyxoma Ossifying fibromyxoid tumour Fibroepithelial Brenner tumour Fibroadenoma Phyllodes tumor Synovial -like Synovial sarcoma Clear-cell sarcoma Lipomatous Lipoma / liposarcoma Myelolipoma Myxoid liposarcoma PEComa Angiomyolipoma Chondroid lipoma Intradermal spindle cell lipoma Pleomorphic lipoma Lipoblastomatosis Spindle cell lipoma Hibernoma Myomatous general: Myoma / myosarcoma smooth muscle : Leiomyoma / leiomyosarcoma skeletal muscle : Rhabdomyoma / rhabdomyosarcoma : Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma Leiomyoma Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP Complex mixed and stromal Adenomyoma Pleomorphic adenoma Mixed Müllerian tumor Mesoblastic nephroma Wilms' tumor Malignant rhabdoid tumour Clear-cell sarcoma of the kidney Hepatoblastoma Pancreatoblastoma Carcinosarcoma Mesothelial Mesothelioma Adenomatoid tumor v t e Tumors of the female urogenital system Adnexa Ovaries Glandular and epithelial / surface epithelial- stromal tumor CMS: Ovarian serous cystadenoma Mucinous cystadenoma Cystadenocarcinoma Papillary serous cystadenocarcinoma Krukenberg tumor Endometrioid tumor Clear-cell ovarian carcinoma Brenner tumour Sex cord–gonadal stromal Leydig cell tumour Sertoli cell tumour Sertoli–Leydig cell tumour Thecoma Granulosa cell tumour Luteoma Sex cord tumour with annular tubules Germ cell Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma / Struma ovarii Choriocarcinoma Fibroma Meigs' syndrome Fallopian tube Adenomatoid tumor Uterus Myometrium Uterine fibroids/leiomyoma Leiomyosarcoma Adenomyoma Endometrium Endometrioid tumor Uterine papillary serous carcinoma Endometrial intraepithelial neoplasia Uterine clear-cell carcinoma Cervix Cervical intraepithelial neoplasia Clear-cell carcinoma SCC Glassy cell carcinoma Villoglandular adenocarcinoma Placenta Choriocarcinoma Gestational trophoblastic disease General Uterine sarcoma Mixed Müllerian tumor Vagina Squamous-cell carcinoma of the vagina Botryoid rhabdomyosarcoma Clear-cell adenocarcinoma of the vagina Vaginal intraepithelial neoplasia Vaginal cysts Vulva SCC Melanoma Papillary hidradenoma Extramammary Paget's disease Vulvar intraepithelial neoplasia Bartholin gland carcinomaUSP18, HMGA1, PTGS2, CSF3, DMD, CHEK2, MED12, TP53, KIT, CDKN2A, MDM2, IGF2, BCL2, TP63, PIK3CA, MYC, H3P10, PIK3CB, PIK3CD, PTEN, FH, ESR1, CD274, PIK3CG, ALK, VCAN, MYOCD, HMGA2, CALD1, HHAT, AKT1, SERPINE1, HTC2, BRCA1, IGF1, ATM, HDAC9, CDH1, CD163, PGR, ABCB1, SMUG1, RRAS2, PRUNE2, ACTB, AXL, VIM, CTNNB1, ZEB1, MIR200C, TYRO3, DFFB, SNAI2, DES, TOPBP1, NDC80, VDR, FERMT2, RASSF1, EDIL3, TP73, AGTR2, AGTR1, TP53BP1, TPX2, ARL4C, IFITM1, VEGFA, IRS2, MVP, DLEC1, ZEB2, VIPR2, CCDC6, KLF4, SLC33A1, COIL, LATS1, SOCS3, SLC25A11, PEG10, PDCD4, TBC1D9, RFTN1, NACC1, AZIN2, RICTOR, CHAMP1, GADL1, RTL1, MIR10A, MIR125A, MIR152, MIR21, MIR221, MIR34C, MIR93, GGTLC5P, SSX2B, GGTLC3, GGT2, GGTLC4P, PGR-AS1, WDR20, MYLK3, MYLK2, BCOR, ZNF281, LMOD1, TOP2A, PARP1, LEF1, UBASH3A, MOV10L1, FBLIM1, ANO1, TRIM63, RCBTB1, SMARCAD1, PNPLA2, WDR48, PRUNE1, ZNF250, FERMT3, OBSCN, AMHR2, CDO1, TNS1, GAS6, F3, ACSL4, FASN, FCGR3A, FCGR3B, FGF2, FOLH1, FUS, GGT1, CDH2, GLI1, GRN, HIF1A, CD68, HMMR, HSP90AA1, CD34, IL1R1, EWSR1, ERCC5, TERT, DDIT3, CHGA, COL1A1, CR2, CSF1, CDK8, NKX2-5, DAP, DCC, DFFA, EPHB2, DHCR24, CDK4, DPEP1, E2F1, EGF, EGFR, ELN, SLC29A1, CXCL8, INSRR, ITGA7, TSPAN31, BGN, BCL6, ACVRL1, PLAG1, PLAU, MAPK1, APEX1, RB1, SCN1A, JAK1, SETMAR, SLPI, CETN1, SP3, SRC, SRF, SSX2, STAT3, PECAM1, PDGFRB, PDGFRA, PDGFB, CCK, KRAS, LGALS3, MBD1, MEF2A, MEF2D, MET, MMP2, MRC1, GADD45B, MYLK, PPP1R12A, NME1, NPAS2, NTRK1, ROR2, PCP4, SMARCB1
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Immunodeficiency 59 And Hypoglycemia
Omim
Molecular Genetics By whole-exome sequencing in a 45-year-old woman with an immunometabolic syndrome, Haapaniemi et al. (2017) identified compound heterozygosity for missense mutations in the HYOU1 gene (A419P, 601746.0001 and Y231H, 601746.0002).
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2,4 Dienoyl-Coa Reductase Deficiency
Wikipedia
External links [ edit ] Classification D OMIM : 222745 MeSH : C565624 v t e Inborn error of lipid metabolism : fatty-acid metabolism disorders Synthesis Biotinidase deficiency (BTD) Degradation Acyl transport Carnitine CPT1 CPT2 CDSP CACTD Adrenoleukodystrophy (ALD) Beta oxidation General Acyl CoA dehydrogenase Short-chain SCADD Medium-chain MCADD Long-chain 3-hydroxy LCHAD Very long-chain VLCADD Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy Unsaturated 2,4 Dienoyl-CoA reductase deficiency (DECRD) Odd chain Propionic acidemia (PCC deficiency) Other 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD) Glutaric acidemia type 2 (MADD) To acetyl-CoA Malonic aciduria (MCD) Aldehyde Sjögren–Larsson syndrome (SLS)
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Palmoplantar Keratoderma And Congenital Alopecia 1
Omim
Stratton et al. (1993) proposed that the phenotype was similar to Alves syndrome (601701). However, the patient reported by Stratton et al. (1993) did not have cataracts or scoliosis, prompting Castori et al. (2010) to suggest that this patient had the less severe autosomal dominant form of palmoplantar keratosis with congenital alopecia.
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Leukodystrophy, Hypomyelinating, 16
Omim
Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties.
- Complement Component 4b Deficiency Omim
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Trehalase Deficiency
Omim
Gudmand-Hoyer et al. (1988) noted that the symptoms of trehalose malabsorption are the same as for other disaccharide malabsorption syndromes and stated that it undoubtedly has the same pathophysiologic mechanism: the nondigested disaccharide and its hydrolysates, caused by bacterial fermentation, exert a pronounced osmotic effect in the intestine, drawing water into it; the consequent accelerated intestinal passage of the intestinal contents results in diarrhea and diffuse abdominal symptoms.