Symptoma

H Syndrome

Rosai-Dorfman Disease

An unusual occurrence of coronary artery disease with accelerated atherosclerosis in a child with H syndrome is presented herein. [ncbi.nlm.nih.gov]

  • Short Stature

    The association of cutaneous hyperpigmented, hypertrichotic, and indurated patches associated with hearing loss, short stature, cardiac anomalies, hepatosplenomegaly, scrotal masses, and hypogonadism has not, to our knowledge, been previously recognized [ncbi.nlm.nih.gov]

    If these are lacking, the constellation of additional findings such as hearing loss, fixed flexion contractures of fingers and toes, short stature and hepatosplenomegaly should raise suspicion for H syndrome. [orpha.net]

  • Fever

    […] patient had insulin-dependent diabetes, congenital deafness, short stature, hyperpigmented patches on the skin, dysmorphic features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with fever [ncbi.nlm.nih.gov]

    SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. [uniprot.org]

    Flu-like symptoms are also usually present during the initial stages, and may include: feeling generally unwell a high temperature (fever) of 38C (100.4F) or above a headache joint pain a cough After a few days a rash appears, which consists of individual [nhs.uk]

    Heerfordt syndrome, also known as Heerfordt-Waldenström syndrome or uveoparotid fever, is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown [radiopaedia.org]

    […] diarrhea diabetes, periodic fever, recurrent fever, periodic fevers, recurrent fevers, hyperpigmentation, hypertrichosis, varicose veins, Psychomotor impairment, delay,developmental delay, mental impairment, mental delay, cognitive delay, retardation [autoinflammatory-search.org]

  • Splenomegaly

    Cardiac defects,heart defects, cardiac, heart, atrial septal defect, ventricular septal defect, patent ductus arteriosis, hole in heart, ASD, VSD, PDA, mitral valve prolapse, cardiomegaly, diabetes mellitus, diabetes, hepatosplenomegaly, hepatomegaly, splenomegaly [autoinflammatory-search.org]

  • Flexion Contracture

    If these are lacking, the constellation of additional findings such as hearing loss, fixed flexion contractures of fingers and toes, short stature and hepatosplenomegaly should raise suspicion for H syndrome. [orpha.net]

    It is characterized by cutaneous hyperpigmentation, camptodactyly or flexion contractures and other features, among them hearing loss. [ncbi.nlm.nih.gov]

  • Keratosis

    Cutaneous histopathologic examination showed hyperpigmentation of the basal layer with seborrheic-keratosis-like acanthosis, histiocytic infiltration, and a perivascular mononuclear infiltrate with plasma cells and mast cells throughout the dermis and [ncbi.nlm.nih.gov]

Prior workup included abdominal radiographs, abdominal ultrasonography, abdominal CT, and gastric biopsy; all are normal. He has mild gastritis and esophagitis on esophagogastroduodenoscopy and mildly delayed gastric emptying. [mdedge.com]

  • Ventricular Hypertrophy

    On clinical examination, she had hepatosplenomegaly, generalized lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss, hypogonadism, short stature, and characteristic dysmorphic features. [ncbi.nlm.nih.gov]

Some patients respond to treatment with biologics alone or in combination with other immune suppressants; in particular, treatment of systemic inflammation with IL-6 blockade appears to be promising. [ncbi.nlm.nih.gov]

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]

After Treatment Get information about how to live well after myelodysplastic syndrome treatment and make decisions about next steps. [cancer.org]

While treatment with Neupogen tm and supportive care can help victims survive the short-term syndromes, H-ARS and GI-ARS, long-term survival is dependent on effective treatment for Lung-ARS. There are no current treatments for Lung-ARS. [aolsrx.com]

What is the Prognosis of Rosai-Dorfman Disease of Breast? (Outcomes/Resolutions) The prognosis of Rosai-Dorfman Disease of Breast is based on the severity of the signs and symptoms. [dovemed.com]

Prognosis The disease usually runs a variable but progressive course, and early-death has been described. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Prognosis is generally as for PID. [ 6 ] There may be no symptoms of Fitz-Hugh Curtis syndrome and it is found incidentally at operation at a later date. [patient.info]

[…] subcortical cavitations in the affected hemisphere reduced caliber of ACA, MCA or PCA on the affected side small corpus callosum ipsilateral hemispheric volume loss with a shift of midline structures usually lack hemosiderin on T2*/ SWI Treatment and prognosis [radiopaedia.org]

What is the prognosis of someone with an Ehlers-Danlos Syndrome? The prognosis depends on the type of Ehlers-Danlos syndrome and the individual. [ehlers-danlos.com]

Etiology H syndrome is caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3) that result in histiocytic infiltration of numerous organs. There are no clear genotype-phenotype correlations for SLC29A3 mutations. [orpha.net]

Its etiology remains unclear. The observation of congenital disease and reports of familial cases with seven pairs of siblings including three sets of identical twins suggests a genetic predisposition in some patients with this condition. [ncbi.nlm.nih.gov]

Readers will find essential information on ERS with regard to its etiology, epidemiology, clinical diagnosis and manifestation, genetic background, and risk stratification, as well as the relationship between ERS and Brugada syndrome. [books.google.de]

Type 1 diabetes mellitus (TIDM) has a multifactorial etiology, with major genetic-susceptibility determinants located in the HLA and insulin-gene (INS) regions. Linkage data implicating other disease-susceptibility loci are conflicting. [scinapse.io]

(Etiology) The definitive cause of Rosai-Dorfman Disease of Breast is unknown. It may occur due to an abnormal immune system of the body, caused by a variety of triggers. [dovemed.com]

Epidemiology It typically affects infants and young ... [radiopaedia.org]

Summary Epidemiology To date, around 100 patients have been described in the world literature. Clinical description H syndrome becomes clinically apparent during childhood and cutaneous features are the most prevalent. [orpha.net]

Epidemiology It affects between 4-14% of women who have PID. The epidemiology tends to mimic that of PID, affecting women of reproductive age and often younger women. [patient.info]

Readers will find essential information on ERS with regard to its etiology, epidemiology, clinical diagnosis and manifestation, genetic background, and risk stratification, as well as the relationship between ERS and Brugada syndrome. [books.google.de]

However, it is likely that CHS is under-recognized and under-reported. 2,4,5 CHS symptoms may be misattributed to cyclic vomiting syndrome, 3 because 50% of patients diagnosed with cyclic vomiting syndrome report daily Cannabis use. 6 There is no epidemiological [mdedge.com]

Overall, better identification and understanding of the pathophysiology may help devise earlier diagnosis and better treatment strategies. [ncbi.nlm.nih.gov]

In most cases the pathophysiology is unclear and treatment is nonspecific. [kclpure.kcl.ac.uk]

Cambridge University Press, 15/11/1432 AH A fully updated new edition of this definitive, unrivalled, no-nonsense textbook, Central Pain Syndrome: Pathophysiology, Diagnosis and Management provides new treatment guidelines that aid the reader in effective [books.google.es]

Overall, better identification and understanding of the pathophysiology may help devise earlier diagnosis and better treatment strategies. Disclosure: J. Bloom, None; C. Lin, None; L. F. Imundo, None; S. Guthery, None; S. Stepenaskie, None; C. [acrabstracts.org]

Stiff-man syndrome, a review of the literature, and report of three additional cases and discussion of the pathophysiology and therapy. Mayo Clin. Proc. 39, 131–144 (1964) Google Scholar 14. Sawaya, M. C. G., Horton, R. W., Meldrum, B. [link.springer.com]

Infants who receive a heart transplant will need to take medicines for the rest of their lives to prevent their body from rejecting the new heart. References Parker SE, Mai CT, Canfield MA, et al; for the National Birth Defects Prevention Network. [cdc.gov]

Causes, Risk Factors, and Prevention Learn about the risk factors for myelodysplastic syndromes and what you might be able to do to help lower your risk. [cancer.org]

What Can I Do to Prevent HELLP Syndrome? Unfortunately, there's currently no way to prevent this illness. [preeclampsia.org]

[…] is better than cure and early and aggressive termination of seizures is considered the most effective way to prevent post-convulsive hemiplegia 9. [radiopaedia.org]

Guillain-Barre Syndrome Medications Certain drugs such as heparin may be used to prevent blood clotting. Corticosteroids are not used. [emedicinehealth.com]