The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Poster presentation Open Access Pediatric Rheumatology 2015 13 (Suppl 1) :P199 Kunimoto et al. 2015 Published: 28 September 2015 Keywords Lipodystrophy Carboxamide Autoinflammatory Syndrome Autoinflammatory Disorder Partial Lipodystrophy Nakajo-Nishimura [ped-rheum.biomedcentral.com]

CANDLE syndrome CANDLE syndrome is inherited via autosomal recessive manner Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature ( CANDLE ) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory [en.wikipedia.org]

At present, about 10 cases are confirmed to be alive only in the Kansai area, including one infant case in Wakayama. However, more cases are expected to be added in the near future. [ingentaconnect.com]

• Aspiration

  Bone marrow aspirate and biopsy were negative for malignancy or atypical changes. Her skin biopsy showed vasculitis with leucocytoclasis with prominent neutrophilic infiltration. [academic.oup.com]

  Mauriac Syndrome May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration [rgd.mcw.edu]

• Microdontia

  Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. [ncbi.nlm.nih.gov]

  […] lipodystrophy. [1] Other novel mutations resulting in the syndrome have also involved the manifestation of other conditions, such as Sweet's syndrome and pericarditis. [4] Another case in 2015 showcased previously undescribed dental symptoms, such as microdontia [en.wikipedia.org]

• Poor Oral Hygiene

  The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. [ncbi.nlm.nih.gov]

• Macrotia

  GENITALIA SYNDROME Microcephaly, Growth Deficiency, Seizures, and Brain Malformations MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly, Macrotia [rgd.mcw.edu]

• Hyperhidrosis

  Other less common manifestations include short stature, heliotrope-like rash on eyelids, severe tylosis on feet and hyperhidrosis of hands and feet. Hepatosplenomegaly is also reported. Lipodystrophy is progressive and irreversible. [orpha.net]

  Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy [genome.jp]

• Eczema

  […] type 2 atelosteogenesis type 3 atelosteogenesis type I, see atelosteogenesis type 1 atelosteogenesis type III, see atelosteogenesis type 3 atelosteogenesis, type 2, see atelosteogenesis type 2 ATM, see ataxia-telangiectasia atopic dermatitis atopic eczema [mygenomics.com]

  Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

• Papule

  The skin lesion was composed of generalized violaceous papules and nodules and violaceous puffy eyelids bilaterally. [academic.oup.com]

• Arthralgia

  Patients with CANDLE can also have conjunctivitis, arthralgia without arthritis, nodular episcleritis (irritation and inflammation on the tissue covering the white part of the eye), chondritis of the ear and nose (inflamed cartilage), episodes of asceptic [autoinflammatory.org]

  Arthralgia without arthritis is also noted in most patients and significant joint contractures develop over time. [printo.it]

  arthralgia, urticaria, neurological problems, severe amyloidosis NALP3 overactive yes Faniilial Mediterranean fever (FMF) Fever, peritonitds, pleuritis, amyloidosis Pyrin overactive partial ryogenic artnritls, pyoderma ga ngrenosum, and acne syndrome [archive.org]

  […] malaise; lymphadenopathy; serositis; and ocular (eg, conjunctivitis, episcleritis), oropharyngeal (eg, aphthous ulcers), gastrointestinal (eg, abdominal pain, bloating, diarrhea), dermatologic (eg, rash, urticaria, pyogenic lesions), musculoskeletal (eg, arthralgias [cfp.ca]

  Musculoskeletal Signs Arthralgias are very common in children with CANDLE, but patients do not show radiologic features of arthritis. [frontiersin.org]

• Liver Biopsy

  In addition, her steatosis with portal, periportal and pericellular fibrosis was shown on a liver biopsy. [academic.oup.com]

These treatments are all ineffective in halting lipodystrophy progression. Prognosis Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. [orpha.net]

These treatments are all ineffective in halting lipodystrophy progression. Resources - Nakajo syndrome [checkorphan.org]

In our child case of NNS (Kunimoto et al, Dermatology 2013), additional administration of methotrexate (MTX) significantly decreased a frequency of febrile attacks, in comparison to the treatment with oral corticosteroid alone. [ped-rheum.biomedcentral.com]

hyperaldosteronism: diagnosis, lateralization, and treatment; subclinical Cushing’s syndrome; adrenocortical cancer update; and pancreatic neuroendocrine tumors. [books.google.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. Some may die from sudden cardiac failure, probably due to lung insufficiency. [orpha.net]

Prevention - Nakajo syndrome Diagnosis - Nakajo syndrome Prognosis - Nakajo syndrome Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. [checkorphan.org]

Prognosis The prognosis for progressive lipodystrophy is correlated with the renal complications and the onset of renal failure. [emedicine.medscape.com]

However, the activity of the disease may fluctuate over time. 2.10 What is the long-term prognosis (predicted outcome and course) of the disease? Life expectancy can be reduced, with death often the result of multi-organ inflammation. [printo.it]

Prognosis and Follow-Up CANDLE patients have a variable outcome. Some patients have had a lethal course due to acute attacks of inflammation in important organs of the body. [frontiersin.org]

Etiology NNS is due to a mutation in the PSMB8 gene (6p21.3) encoding the beta5i subunit of immunoproteasome. To date, all examined Japanese patients show the same homozygous c.602G T (Gly201Val) mutation with a founder effect. [orpha.net]

Discusses new studies examining potential etiologies for the increase in food allergy and examines potential immunotherapeutic strategies for treating food allergies. [books.google.es]

Clinically, each CGS is characterized by a specific and complex phenotype, which was recognized in most cases as a genetic syndrome before knowledge of their cytogenetic etiology. [ommbid.mhmedical.com]

Etiology No specific cause or risk factor has been elucidated for progressive lipodystrophy. Some reports have shown a correlation of progressive lipodystrophy with prior acute viral or bacterial infection. [emedicine.medscape.com]

Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 1977 ;11: 91 – 106. Google Scholar ISI 157. Ramos, ES, Moreira-Filho, CA, Vicente, YA. [journals.sagepub.com]

Summary Epidemiology The prevalence is unknown. In Japan, 30 cases have been identified to date. [orpha.net]

[…] micrognathia Intellectual deficit, X-linked, Nascimento type Synonym(s): - KLICK syndrome Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

[…] of SNPs for CLC No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLC Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for CLC Genetic Association Database (GAD) CLC Human Genome Epidemiology [genecards.org]

Epidemiology. 6 See also; 7 References; 8 Further reading; 9 External links ... (PDF) Síndrome branquio-oto-renal: A propósito de una familia ; 1 Ago 2018 ... [wsszwtzy.ga]

Acquired partial lipodystrophy (Barraquer-Simons syndrome) usually follows acute febrile illness; it can rarely be seen in association with varicella. [11] Epidemiology Frequency Progressive lipodystrophy is rare, with fewer than 200 cases reported in [emedicine.medscape.com]

Conclusions The current PSC models revealed a specific ROS-mediated inflammatory pathway and provide a platform for studying the pathophysiology of NNS and searching for the alternative therapeutic options for NNS and related immunoproteasome disorders [ard.bmj.com]

This Review describes the genetic pathophysiology of the four main forms of CGL and makes recommendations for their appropriate diagnosis and management. [scinapse.io]

Pathophysiology of CANDLE syndrome. (A) Normal state. After viral infection, type 1 interferons (IFNs) are released by the infected cell. [frontiersin.org]

However, some forms of partial lipodystrophy in children do not seem to fit the diagnostic criteria for any of the established lipodystrophy subset. [5] Pathophysiology The etiology of this condition is obscure. [emedicine.medscape.com]

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009 ;27: 621 - 668 2. Sanchez GA, de Jesus AA, Goldbach-Mansky R. [nejm.org]

Prevention - Nakajo syndrome Diagnosis - Nakajo syndrome Prognosis - Nakajo syndrome Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. [checkorphan.org]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [medlineplus.gov]

Early therapy to prevent disabling manifestations is desirable, but still no agent has been truly effective. Prevention and treatment of acute inflammatory attacks will permit longer life expectancy in these patients. [frontiersin.org]

However, preventive measures are identical: NO halogenated agent NOR succinylcholine. [sites.uclouvain.be]