hepatomegaly

Summary

Summary: Enlargement of the liver.

Top Publications

  1. Abaci A, Bekem O, Unuvar T, Ozer E, Bober E, Arslan N, et al. Hepatic glycogenosis: a rare cause of hepatomegaly in Type 1 diabetes mellitus. J Diabetes Complications. 2008;22:325-8 pubmed publisher
    b>Hepatomegaly, with or without abnormal liver function tests, was a common feature of both pediatric and adult patients with diabetes mellitus...
  2. Wilson S, Jones F, Mwatha J, Kimani G, Booth M, Kariuki H, et al. Hepatosplenomegaly associated with chronic malaria exposure: evidence for a pro-inflammatory mechanism exacerbated by schistosomiasis. Parasite Immunol. 2009;31:64-71 pubmed publisher
    ..mansoni infected children, compared to those without detectable S. mansoni and malarial infections, but exposed to malaria, suggest that S. mansoni infection may augment the underlying inflammatory reaction...
  3. Nagao K, Inoue N, Inafuku M, Shirouchi B, Morooka T, Nomura S, et al. Mukitake mushroom (Panellus serotinus) alleviates nonalcoholic fatty liver disease through the suppression of monocyte chemoattractant protein 1 production in db/db mice. J Nutr Biochem. 2010;21:418-23 pubmed publisher
    ..After 4 weeks of feeding, hepatomegaly, hepatic triglyceride accumulation and elevated hepatic injury markers in serum were markedly alleviated in ..
  4. Wilson S, Vennervald B, Kadzo H, Ireri E, Amaganga C, Booth M, et al. Health implications of chronic hepatosplenomegaly in Kenyan school-aged children chronically exposed to malarial infections and Schistosoma mansoni. Trans R Soc Trop Med Hyg. 2010;104:110-6 pubmed publisher
    ..This study shows that hepatosplenomegaly associated with chronic exposure to malaria and schistosomiasis is not a benign symptom amongst school-aged children but has potential long-term health consequences...
  5. Wilson S, Vennervald B, Kadzo H, Ireri E, Amaganga C, Booth M, et al. Hepatosplenomegaly in Kenyan schoolchildren: exacerbation by concurrent chronic exposure to malaria and Schistosoma mansoni infection. Trop Med Int Health. 2007;12:1442-9 pubmed
    ..We investigated the role of chronic malaria in childhood hepatosplenomegaly in the presence and absence of concurrent S. mansoni infection...
  6. Wilson S, Jones F, Mwatha J, Kimani G, Booth M, Kariuki H, et al. Hepatosplenomegaly is associated with low regulatory and Th2 responses to schistosome antigens in childhood schistosomiasis and malaria coinfection. Infect Immun. 2008;76:2212-8 pubmed publisher
    ..levels in response to stimulation with SEA were high, and a negative association between presentation with hepatomegaly and the levels of the regulatory cytokines interleukin-6 and transforming growth factor beta(1) suggests that a ..
  7. Logan L, Jacobs N, McAuley J, Weinstein R, Anderson E. A multicenter retrospective study of childhood brucellosis in Chicago, Illinois from 1986 to 2008. Int J Infect Dis. 2011;15:e812-7 pubmed publisher
    ..To determine risk factors in children for the acquisition of Brucella, clinical presentation, treatment, and disease outcomes...
  8. Robertson M, de Jong G, Mansvelt E. Prenatal diagnosis of congenital leukemia in a fetus at 25 weeks' gestation with Down syndrome: case report and review of the literature. Ultrasound Obstet Gynecol. 2003;21:486-9 pubmed
    ..A review of the literature of the seven cases described antenatally and 10 cases described in the immediate neonatal period or on examination of the stillborn baby is presented...
  9. Hojo S, Tsukimori K, Kitade S, Nakanami N, Hikino S, Hara T, et al. Prenatal sonographic findings and hematological abnormalities in fetuses with transient abnormal myelopoiesis with Down syndrome. Prenat Diagn. 2007;27:507-11 pubmed
    ..To determine relevant prenatal findings of transient abnormal myelopoiesis (TAM) that have important prognostic implications...

Scientific Experts

More Information

Publications62

  1. Kikuchi A, Tamura N, Ishii K, Takakuwa K, Matsunaga M, Sudo N, et al. Four cases of fetal hypoechoic hepatomegaly associated with Trisomy 21 and transient abnormal myelopoiesis. Prenat Diagn. 2007;27:665-9 pubmed
    Our objective was to determine the clinical significance of fetal hypoechoic hepatomegaly and serial change of liver sizes.
  2. Mwatha J, Jones F, Mohamed G, Naus C, Riley E, Butterworth A, et al. Associations between anti-Schistosoma mansoni and anti-Plasmodium falciparum antibody responses and hepatosplenomegaly, in Kenyan schoolchildren. J Infect Dis. 2003;187:1337-41 pubmed
    ..falciparum antibodies, compared with nonhepatosplenic children, a finding that strongly suggests that some experience of P. falciparum influenced the development of hepatosplenomegaly in these S. mansoni-infected children...
  3. Bembi B, Zambito Marsala S, Sidransky E, Ciana G, Carrozzi M, Zorzon M, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology. 2003;61:99-101 pubmed
    ..The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies...
  4. Hamada H, Yamada N, Watanabe H, Okuno S, Fujiki Y, Kubo T. Hypoechoic hepatomegaly associated with transient abnormal myelopoiesis provides clues to trisomy 21 in the third-trimester fetus. Ultrasound Obstet Gynecol. 2001;17:442-4 pubmed
    We present two cases of transient abnormal myelopoiesis associated with trisomy 21 that had hypoechoic hepatomegaly during the late fetal period...
  5. Booth M, Vennervald B, Kabatereine N, Kazibwe F, Ouma J, Kariuki C, et al. Hepatosplenic morbidity in two neighbouring communities in Uganda with high levels of Schistosoma mansoni infection but very different durations of residence. Trans R Soc Trop Med Hyg. 2004;98:125-36 pubmed
    ..This parameter should therefore be a routine measurement during epidemiological surveys of S. mansoni...
  6. Smrcek J, Baschat A, Germer U, Gloeckner Hofmann K, Gembruch U. Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21. Ultrasound Obstet Gynecol. 2001;17:403-9 pubmed
    ..To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21...
  7. Cadoret A, Ovejero C, Saadi Kheddouci S, Souil E, Fabre M, Romagnolo B, et al. Hepatomegaly in transgenic mice expressing an oncogenic form of beta-catenin. Cancer Res. 2001;61:3245-9 pubmed
    ..These mice rapidly developed hepatomegaly soon after birth, with livers three to four times heavier than those of nontransgenic littermates...
  8. Kardorff R, Gabone R, Mugashe C, Obiga D, Ramarokoto C, Mahlert C, et al. Schistosoma mansoni-related morbidity on Ukerewe Island, Tanzania: clinical, ultrasonographical and biochemical parameters. Trop Med Int Health. 1997;2:230-9 pubmed
    ..Pretreated individuals excreted significantly fewer ova (median 124 vs 192e.p.g., P < 0.001). Hepatomegaly (determined by ultrasonography) was present in 35%, splenomegaly in 80%...
  9. Komatsu M, Waguri S, Ueno T, Iwata J, Murata S, Tanida I, et al. Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice. J Cell Biol. 2005;169:425-34 pubmed
    ..Our results indicate the important role of autophagy in starvation response and the quality control of proteins and organelles in quiescent cells...
  10. Gryseels B. The morbidity of schistosomiasis mansoni in the Rusizi Plain (Burundi). Trans R Soc Trop Med Hyg. 1988;82:582-7 pubmed
    ..Left lobe hepatomegaly was found in 26% of those infected, and in 10% of those not infected; right lobe hepatomegaly in 7% and 5%, and ..
  11. Torbenson M, Chen Y, Brunt E, Cummings O, Gottfried M, Jakate S, et al. Glycogenic hepatopathy: an underrecognized hepatic complication of diabetes mellitus. Am J Surg Pathol. 2006;30:508-13 pubmed
    ..All had type I diabetes mellitus with poor glycemic control. The clinical presentations included hepatomegaly, abdominal pain, and elevated transaminases (range, 50-1600 IU/L)...
  12. Tan X, Apte U, Micsenyi A, Kotsagrelos E, Luo J, Ranganathan S, et al. Epidermal growth factor receptor: a novel target of the Wnt/beta-catenin pathway in liver. Gastroenterology. 2005;129:285-302 pubmed
    ..Wnt/beta-catenin activation is observed in normal liver development, regeneration, and liver cancer. Our aim was to elucidate the regulation and mechanism of this pathway in liver...
  13. Booth M, Vennervald B, Kenty L, Butterworth A, Kariuki H, Kadzo H, et al. Micro-geographical variation in exposure to Schistosoma mansoni and malaria, and exacerbation of splenomegaly in Kenyan school-aged children. BMC Infect Dis. 2004;4:13 pubmed
    ..Here, we have investigated whether relatively high exposure to both infections has a clinically measurable effect on this condition...
  14. Stiles B, Wang Y, Stahl A, Bassilian S, Lee W, Kim Y, et al. Liver-specific deletion of negative regulator Pten results in fatty liver and insulin hypersensitivity [corrected]. Proc Natl Acad Sci U S A. 2004;101:2082-7 pubmed
    ..Deletion of Pten in the liver resulted in increased fatty acid synthesis, accompanied by hepatomegaly and fatty liver phenotype...
  15. Vennervald B, Booth M, Butterworth A, Kariuki H, Kadzo H, Ireri E, et al. Regression of hepatosplenomegaly in Kenyan school-aged children after praziquantel treatment and three years of greatly reduced exposure to Schistosoma mansoni. Trans R Soc Trop Med Hyg. 2005;99:150-60 pubmed
    ..and mid-clavicular lines decreased monotonically over time, independently of age, whereas clinically measured hepatomegaly along the mid-sternal line and the prevalence of firm livers decreased in an age-specific manner, being more ..
  16. Booth M, Vennervald B, Butterworth A, Kariuki H, Amaganga C, Kimani G, et al. Exposure to malaria affects the regression of hepatosplenomegaly after treatment for Schistosoma mansoni infection in Kenyan children. BMC Med. 2004;2:36 pubmed
    ..The present analysis focused on the possibility that exposure to malaria infection may have limited the resolution of hepatosplenomegaly in a cohort of Kenyan schoolchildren...
  17. Vennervald B, Kenty L, Butterworth A, Kariuki C, Kadzo H, Ireri E, et al. Detailed clinical and ultrasound examination of children and adolescents in a Schistosoma mansoni endemic area in Kenya: hepatosplenic disease in the absence of portal fibrosis. Trop Med Int Health. 2004;9:461-70 pubmed
    ..A case-only study of 96 children aged 7-20 years defined by ultrasound detectable hepatomegaly was undertaken in Makueni district, Kenya...
  18. Ono H, Shimano H, Katagiri H, Yahagi N, Sakoda H, Onishi Y, et al. Hepatic Akt activation induces marked hypoglycemia, hepatomegaly, and hypertriglyceridemia with sterol regulatory element binding protein involvement. Diabetes. 2003;52:2905-13 pubmed
    ..resulted in a markedly hypoglycemic, hypoinsulinemic, and hypertriglyceridemic phenotype with fatty liver and hepatomegaly. To elucidate the sterol regulatory element binding protein (SREBP)-1c contribution to these phenotypic ..
  19. Sowunmi A, Adedeji A, Sowunmi C, Falade C, Falade A, Ohaeri B, et al. Clinical characteristics and disposition kinetics of the hepatomegaly associated with acute, uncomplicated, Plasmodium falciparum malaria in children. Ann Trop Med Parasitol. 2001;95:7-18 pubmed
    The clinical characteristics and the kinetics of the disposition of the hepatomegaly associated with acute, uncomplicated Plasmodium falciparum malaria were investigated in 162 children in an endemic area of Nigeria...
  20. Gryseels B, Nkulikyinka L. The morbidity of schistosomiasis mansoni in the highland focus of Lake Cohoha, Burundi. Trans R Soc Trop Med Hyg. 1990;84:542-7 pubmed
    ..36%, 25%, and 19%, respectively; of abdominal pain 86%, 78%, and 83%; of fatigue 7%, 2%, and 1%; of left lobe hepatomegaly 30%, 18%, and 9%; of right lobe hepatomegaly 18%, 10%, and 5%; of splenomegaly 18%, 10%, and 7%...
  21. Munns C, McCrossin R, Thomsett M, Batch J. Hepatic glycogenosis: reversible hepatomegaly in type 1 diabetes. J Paediatr Child Health. 2000;36:449-52 pubmed
    ..To describe the aetiology, clinical features and appropriate treatment for hepatic glycogenosis in poorly controlled type 1 diabetes...
  22. Baschat A, Wagner T, Malisius R, Gembruch U. Prenatal diagnosis of a transient myeloproliferative disorder in trisomy 21. Prenat Diagn. 1998;18:731-6 pubmed
    ..This may be due to increased vulnerability of the fetus or represent a disease mechanism unique to fetuses with chromosomal abnormalities...
  23. Luo R, Klumpp S, Finegold M, Maity S. Inactivation of CBF/NF-Y in postnatal liver causes hepatocellular degeneration, lipid deposition, and endoplasmic reticulum stress. Sci Rep. 2011;1:136 pubmed publisher
    ..Altogether, our study reveals for the first time that CBF is a key transcription factor controlling ER function and metabolic processes in mature hepatocytes...
  24. Dutta M, Gundgurthi A, Garg M, Kotwal N. Juvenile Graves' disease with opthalmopathy, lymphadenopathy, accelerated growth and congestive cardiac failure. Indian J Pediatr. 2012;79:670-2 pubmed publisher
    ..The authors report a case of Graves' disease in a 3-year-old child, who had opththalmopathy, accelerated growth, cervical lymphadenopathy, hepatosplenomegaly and congestive cardiac failure; and responded well to treatment...
  25. Bendayan D, Litman K, Hendler A, Polansky V. Liver tuberculosis in an HIV patient: diagnosis and management. Indian J Tuberc. 2010;57:152-6 pubmed
    ..Therefore, it is rarely diagnosed. We report the case of a patient that presented with prolonged fever and hepatomegaly. Liver biopsy revealed non-necrotizing granulomas that led in turn to the diagnosis of generalized tuberculosis ..
  26. Pewzner Jung Y, Brenner O, Braun S, Laviad E, Ben Dor S, Feldmesser E, et al. A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy. J Biol Chem. 2010;285:10911-23 pubmed publisher
    ..Progressive hepatomegaly and noninvasive hepatocellular carcinoma are also seen from approximately 10 months of age...
  27. Gulwani H, Chopra P. Inflammatory pseudotumor of lymph nodes presenting as pyrexia of unknown origin. Indian J Pathol Microbiol. 2008;51:67-9 pubmed
    ..It is thus not only important to be aware of this rare benign pathologic entity while dealing with a case of lymphadenopathy, but also consider it in the differential diagnosis of granulomatous disease...
  28. Wong J, Arango Viana J, Squires T. Heart, liver and spleen pathology in chronic alcohol and drug users. J Forensic Leg Med. 2008;15:141-7 pubmed publisher
    ..Alcohol misuse was associated with cardiomegaly (27% vs. 19%, male CA vs. control) and hepatomegaly (38% vs. 15%). Majority of cases had only one organ affected...
  29. Chen C, Lin S, Tsai F, Lin H, Chern S, Chuang C, et al. Transient abnormal myelopoiesis of mosaic trisomy 21 presenting fetoplacental cytogenetic discrepancy, hepatosplenomegaly, oligohydramnios and abnormal hematological findings. Genet Couns. 2008;19:255-8 pubmed
  30. Vedoya M, Medvedeff M, Mereles B, Chade M, Lorenzati M, Thea A. [Paracoccidioidomycosis in a four-year-old boy]. Rev Iberoam Micol. 2008;25:52-3 pubmed
    ..The diagnosis was confirmed by serology and lymph node biopsy. The patient was treated with amphotericin B. After 48 hours, clinical improvement and considerable adenopathies remission were observed...
  31. Yao M, Wu F, Tang L. Human pentastomiasis in China: case report and literature review. J Parasitol. 2008;94:1295-8 pubmed publisher
    ..Abdomen CT revealed hepatomegaly and multiple nodular low-density pathological changes...
  32. La Spada E, Micalizzi A, La Spada M, Quartarano P, Nugara G, Soresi M, et al. [Abnormal liver function in brucellosis]. Infez Med. 2008;16:148-53 pubmed
    ..At ultrasound one third of the patients showed hepatomegaly with a hepatitis-like pattern and 40 percent of patients had splenomegaly...
  33. Stothard J, Sousa Figueiredo J, Betson M, Green H, Seto E, Garba A, et al. Closing the praziquantel treatment gap: new steps in epidemiological monitoring and control of schistosomiasis in African infants and preschool-aged children. Parasitology. 2011;138:1593-606 pubmed publisher
    ..mansoni appears to diminish after repeated rounds of treatment. Thus use of PZQ should be combined with appropriate health education/water hygiene improvements for both child and mother to bring forth a more enduring solution. ..
  34. Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, et al. High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia. Ann Biol Clin (Paris). 2012;70:648-50 pubmed publisher
    ..It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia...
  35. Abdallah M, Genereau T, Donadieu J, Emile J, Chazouilleres O, Gaujoux Viala C, et al. Langerhans' cell histiocytosis of the liver in adults. Clin Res Hepatol Gastroenterol. 2011;35:475-81 pubmed publisher
    ..The symptoms included hepatomegaly (48%) and/or liver biochemistry abnormalities (61%, including cholestasis associated with increased ..
  36. Oztoprak N, Aydemir H, Piskin N, Seremet Keskin A, Arasli M, Gokmen A, et al. [An adult case of visceral leishmaniasis in a province of Black-Sea region, Turkey]. Mikrobiyol Bul. 2010;44:671-7 pubmed
    ..In conclusion VL should be considered in the differential diagnosis of patients, even adults, with persistent fever, hepatosplenomegaly and pancytopenia, in endemic countries such as Turkey...
  37. Dumortier C, Alcaraz I, Tone A, Burban S, Delesalle F, Maryse F, et al. [Non-cutaneous manifestations of secondary syphilis]. Ann Dermatol Venereol. 2008;135:451-8 pubmed publisher
    ..The usual presentation of secondary syphilis is with cutaneous and mucosal symptoms. However, systematic symptoms can also occur. The purpose of this study was to describe non-mucocutaneous manifestations of secondary syphilis...
  38. Siddiqui N, Aleem A. Autoimmune haemolytic anaemia preceding the diagnosis of Hodgkin's disease: a report of two cases and review of the literature. J Pak Med Assoc. 2009;59:316-9 pubmed
    ..Our report illustrates that patients with AIHA should be regularly and carefully monitored, particularly in treatment resistant cases, for manifestations of a concomitant disease, such as HD, developing later...
  39. Inati A, Akoury G, Khalife H, Gemayel G. A 3-month-old infant with gingival hypertrophy and hepatosplenomegaly. Osteopetrosis. Pediatr Ann. 2008;37:376-8, 380-1 pubmed
  40. Sharp L, Makin E, Davenport M. Hepatic haemangioendothelioma: a vertical association with biliary atresia?. Eur J Pediatr Surg. 2008;18:277-9 pubmed publisher
    ..The authors report on a 4-month-old infant with massive hepatomegaly and hypothyroidism due to multifocal HAE whose mother had been born with biliary atresia...
  41. Kim G, Lee E. Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus. Korean J Radiol. 2009;10:190-3 pubmed publisher
    ..Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management...
  42. Fischer C, Melstrom L, Arnaoutakis D, Jarnagin W, Brown K, D Angelica M, et al. Chemotherapy after portal vein embolization to protect against tumor growth during liver hypertrophy before hepatectomy. JAMA Surg. 2013;148:1103-8 pubmed publisher
    ..Portal vein embolization improves the safety of liver resection by increasing the size of residual liver, but the embolization may increase tumor growth during the waiting period before definitive hepatectomy...
  43. Nair V, Das S, Sharma A, Sharma S, Sharma P, Ray S, et al. A clinicopathological analysis of 26 patients with infection-associated haemophagocytic lymphohistiocytosis and the importance of bone marrow phagocytosis for the early initiation of immunomodulatory treatment. Postgrad Med J. 2013;89:185-92 pubmed publisher
    ..To analyse the clinicopathological presentation, outcome and importance of bone marrow haemophagocytosis in patients with infection-associated haemophagocytic lymphohistiocytosis (IA-HLH) in a tertiary care hospital in Northern India...
  44. Linde B, Oelzner P, Katenkamp K, Hein G, Wolf G. [Fulminate liver failure in a 39-year-old female patient with leukocytosis, unclear fever, and arthralgic pain]. Med Klin (Munich). 2007;102:846-51 pubmed
    ..Fulminate liver insufficiency can have many causes and is a challenge for differential diagnosis...
  45. Ronchi A, Doern C, Brock E, Pugni L, Sanchez P. Neonatal adenoviral infection: a seventeen year experience and review of the literature. J Pediatr. 2014;164:529-35.e1-4 pubmed publisher
    ..To describe the clinical manifestations and short-term outcomes of adenoviral infections in neonates and review all published cases to better determine impact and treatment outcomes...
  46. Fuehrer H, Igel P, Auer H. Capillaria hepatica in man--an overview of hepatic capillariosis and spurious infections. Parasitol Res. 2011;109:969-79 pubmed publisher
  47. Hsiao H, Hsia S, Wu C, Lin J, Chung H, Hwang M, et al. Clinical presentation of pediatric myocarditis in Taiwan. Pediatr neonatol. 2011;52:135-9 pubmed publisher
    ..The purposes of this study were to characterize the symptoms and signs of children with myocarditis at the time of presentation to the hospital and to identify the predictors of death...
  48. Shirouchi B, Nagao K, Furuya K, Shiojiri M, Liu X, Yanagita T. Physiological effects of dietary PIPS soybean-derived phospholipid in obese zucker (fa/fa) rats. Biosci Biotechnol Biochem. 2010;74:2333-5 pubmed
    ..Dietary PIPS alleviated hepatomegaly and fatty liver in the rats...
  49. Badeloe S, van Geel M, Nagtzaam I, Rubio Gozalbo M, Oei R, Steijlen P, et al. Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5. Br J Dermatol. 2008;158:1378-80 pubmed publisher
  50. Richecoeur M, Massoure M, Le Coadou G, Lipovac A, Bronstein J, Delluc C. [Acute hepatic failure as the presenting manifestation of a metastatic lung carcinoma to liver]. Rev Med Interne. 2009;30:911-3 pubmed publisher
    ..Liver was enlarged without ascitis. Abdominal CT-scan revealed a massive hepatomegaly with multiple low-density wedge-shaped lesions...
  51. Avula H. Periodontal findings in a patient with Mauriac syndrome: a case report. Spec Care Dentist. 2012;32:66-9 pubmed publisher
    ..with Mauriac syndrome and concurrently suffering from type 1 diabetes mellitus (T1DM), stunted growth, hepatomegaly, and severe periodontal disease is described. Non-surgical periodontal therapy was the treatment provided...
  52. Fang Z, Krausz K, Tanaka N, Li F, Qu A, Idle J, et al. Metabolomics reveals trichloroacetate as a major contributor to trichloroethylene-induced metabolic alterations in mouse urine and serum. Arch Toxicol. 2013;87:1975-1987 pubmed publisher
    ..These data show the metabolic response to TCE exposure and demonstrate that TCA is the major contributor to TCE-induced metabolite alterations observed in urine and serum...
  53. Kunimoto K, Kimura A, Uede K, Okuda M, Aoyagi N, Furukawa F, et al. A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. Dermatology. 2013;227:26-30 pubmed publisher
    ..Identification of the PSMB8 mutation finalized the diagnosis of NNS at 5 years of age. Understanding a variety of clinicopathological features at the developmental stages is necessary to make an early diagnosis of NNS...