You'll find features like these— Each syndrome is presented in easy-to-read, two-page spreads, allowing you to read material in depth or at-a-glance Full body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of [books.google.com]

We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands. 2015 BMJ Publishing Group Ltd. 展开 收起 JS Marques,Marques J S,Marques, J. S.,... [yixue.baidu.com]

Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. [autoinflammatory-search.org]

Typically, SLE presents with acute CLE. About half of patients with subacute CLE develop mild SLE Only 5% of patients with chronic CLE to have SLE, ie it presents as a skin problem without involvement of other organs. [dermnetnz.org]

Pulmonary vascular congestion and lymphangiectasia may be present in some individuals antenatally. Renal failure, sometimes with hypertension can occur at any time from early childhood to young adulthood. [disorders.eyes.arizona.edu]

• Hemophilia A

  A Hemophilia B Hemophilia B, Leyden Hemophilia B, Brandenburg Hemorrhagic Diathesis due to Antithrombin Pittsburgh Heparin Cofactor II Deficiency Hepatic Lipase Deficiency Hereditary Angioedema, Type II Hereditary Haemorrhagic Telangiectasia, Type 2 [sequencing.com]

  Human sex -linked traits, for example, include hemophilia, color-blindness, and baldness. [78stepshealth.us]

• Developmental Delay

  Evidence of developmental delay has been reported in one patient. The scrotum can be edematous at birth and sometimes contains large hydroceles. Hair is sparse in infancy but within a few years alopecia is complete. [disorders.eyes.arizona.edu]

  Additional findings were an old-looking, peculiar face, mild developmental delay, calcified choroid plexus and renal arteriolosclerosis. It is believed that this is a new case of a newly recognized entity. [link.springer.com]

  Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features ( Precht et al., 1998 ; Prasad et al., 2000 ; Durand [mendelian.co]

  Affiliated tissues include kidney and testis, and related phenotypes are mandibular prognathia and global developmental delay UniProtKB/Swiss-Prot : 75 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome: A syndrome characterized by sparse hair [malacards.org]

• Swelling

  Risk of organ failure if DIRA is untreated. [16] Splenomegaly is common. [16] Joint swelling and severe bone pain. Bone biopsies show no infection. [autoinflammatory-search.org]

  Early symptoms can also be nonspecific - eg, fatigue, musculoskeletal pains and hand swelling. [patient.info]

  Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 30%-79% of people have these symptoms Cutis marmorata 0000965 Hydrocele testis 0000034 Palpebral edema Fullness of eyelids Puffy eyelids Puffy lids Swelling [rarediseases.info.nih.gov]

  General: tiredness, malaise, chronic pain, fever with flares Joints: arthritis or synovitis causing swelling, pain and morning stiffness Lungs: pleurisy or pleural effusions Heart: pericarditis or pericardial effusions Kidneys: protein, casts in urine [dermnetnz.org]

  4.Nonscarring alopecia Diffuse thinning or hair fragility with visible broken hairs in the absence of other causes such as alopecia areata, drugs, iron deficiency and androgenic alopecia 13. 5.Synovitis Involving two or more joints, characterized by swelling [slideshare.net]

• Weakness

  Respiratory muscle weakness if there is severe myositis or extensive skin disease involving the chest. Pneumothorax. Cardiac features [ 7 ] The wide variety of abnormalities makes it difficult to assess prevalence. [patient.info]

  It is manifested by distal muscle weakness and atrophy. Deep tendon reflexes are reduced. Ptosis may be present, and closure of the eyelids is also weak. Atrophy of the temporalis and sternocleidomastoid muscles is severe. [78stepshealth.us]

  A few have autoantibodies, or weak positive autoantibodies, such as: Lupus anticoagulant, anti dsDNA, anticardiolipin, RNP, ANA, Some also have HLA-B51, or HLA-B15, or HLA-B39/B44 noted. [autoinflammatory-search.org]

  Prolonged oral or IV steroid use is associated with significant side effects such as high blood pressure, high blood sugar, osteopenia (weak bones), hyperlipidemia (high cholesterol), and stress on the kidney and eyes. [primaryimmune.org]

  In acute and profuse haemorrhage (e.g. gastro-intestinal), the patient develops acute weakness, vertigo, and syncope. Many diseases of the blood system are attended by fever. [intranet.tdmu.edu.ua]

• Lymphedema

  […] summary : Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as glomerulonephritis with sparse hair and telangiectases, is related to hypotrichosis-lymphedema-telangiectasia syndrome. [malacards.org]

  Title Other Names: Hypotrichosis lymphedema telangiectasia syndrome; HLTS; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis lymphedema telangiectasia syndrome; HLTS; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative [rarediseases.info.nih.gov]

  SNP ID Clin Chr 20 pos Sequence Context AA Info Type rs28936692 Pathogenic, Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] 64,049,207(-) GGCTG(C/G)CTCAG intron-variant, reference, missense rs28936693 Pathogenic, Hypotrichosis-lymphedema-telangiectasia [genecards.org]

  Get Update Overview Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by {3:Moalem et al., 2015}). [diseaseinfosearch.org]

  Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome Clinical Characteristics Ocular Features: Sparse hair can be noted at birth and by several years of age the alopecia of the eyelids and eyebrows is complete. [disorders.eyes.arizona.edu]

• Hypertension

  Renal failure, sometimes with hypertension can occur at any time from early childhood to young adulthood. Renal biopsy has shown histologic features consistent with membranoproliferative glomerulonephritis and thrombotic microangiopathy. [disorders.eyes.arizona.edu]

  More severe pulmonary hypertension can be helped by continuous intravenous infusion or inhalation of prostacyclin (Iloprost). Taken by mouth, bosentan ( Tracleer ) is used to treat pulmonary hypertension. [medicinenet.com]

  Vascular manifestations include secondary Raynaud's phenomenon, ischaemia of extremities, pulmonary arterial hypertension and renal disease. [patient.info]

  These structural and functional abnormalities usually lead to HEMATURIA; PROTEINURIA; HYPERTENSION; and RENAL INSUFFICIENCY. Year introduced: BRIGHT DISEASE was BRIGHT'S DISEASE see NEPHRITIS 1963-1978 Select item 68015433 2. [ncbi.nlm.nih.gov]

  […] and 50% cases Thick vermilion border Hearing impairment Pica Hypertelorism Seizures Intellectual disability Abnormality of the kidney Nephritis Macrotia Patent ductus arteriosus Cognitive impairment Motor delay Proteinuria Micrognathia Short stature Hypertension [mendelian.co]

• Alopecia

  Alopecia universalis 0 *Alopecia. Alopecia macular degeneration growth retardation 0 *Alopecia *Corneal Dystrophies, Hereditary *Growth Disorders. Alopecia hypogonadism extrapyramidal disorder 0 *Alopecia *Basal Ganglia Diseases *Hypogonadism. [reference.md]

  Hair is sparse in infancy but within a few years alopecia is complete. Telangiectases on the scalp, scrotum, and limbs are evident at several years of age. [disorders.eyes.arizona.edu]

  Visual memory, spatial cogni Diseases of the skin and subcutaneous tissue L00L99 _I Alopecia areata L63.0 Alopecia (capitis) totalis L63.1 Alopecia universalis L63.8 Other alopecia areata L63.9 Alopecia areata, unspecified Androgenic alopecia Includes [78stepshealth.us]

  Diffuse hair loss (nonscarring alopecia ) with brittle hair shafts Subacute CLE Flat scaly patches resembling psoriasis, often in network pattern Annular (ring-shaped) polycyclic (overlapping circular) lesions Lesions resolve with minimal scarring Affects [dermnetnz.org]

  Showing of 23 | 80%-99% of people have these symptoms Abnormality of the lymphatic system 0100763 Absent eyebrow Failure of development of eyebrows 0002223 Absent eyelashes Failure of development of eyelashes 0000561 Alopecia Hair loss 0001596 Palmar [rarediseases.info.nih.gov]

• Sparse Hair

  Affiliated tissues include kidney and testis, and related phenotypes are mandibular prognathia and global developmental delay UniProtKB/Swiss-Prot : 75 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome: A syndrome characterized by sparse hair [malacards.org]

  PubMed is a searchable database of medical literature and lists journal articles that discuss Glomerulonephritis with sparse hair and telangiectases. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]

  Hair is sparse in infancy but within a few years alopecia is complete. Telangiectases on the scalp, scrotum, and limbs are evident at several years of age. [disorders.eyes.arizona.edu]

  《Acta Dermato Venereologica》 -1996年第76卷1期 The unusual case of an 8-year-old girl with a hair disorder is presented， characterized by brittle， short and sparse hair. [yixue.baidu.com]

  Microcephaly sparse hair mental retardation seizures 0 *Alopecia *Intellectual Disability *Microcephaly *Seizures. Jagell Holmgren Hofer syndrome 0 *Alopecia *Ectropion *Ichthyosis *Intellectual Disability *Mouth Abnormalities Lip/abnormalities. [reference.md]

• Sparse Hair

  Affiliated tissues include kidney and testis, and related phenotypes are mandibular prognathia and global developmental delay UniProtKB/Swiss-Prot : 75 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome: A syndrome characterized by sparse hair [malacards.org]

  PubMed is a searchable database of medical literature and lists journal articles that discuss Glomerulonephritis with sparse hair and telangiectases. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]

  Hair is sparse in infancy but within a few years alopecia is complete. Telangiectases on the scalp, scrotum, and limbs are evident at several years of age. [disorders.eyes.arizona.edu]

  《Acta Dermato Venereologica》 -1996年第76卷1期 The unusual case of an 8-year-old girl with a hair disorder is presented， characterized by brittle， short and sparse hair. [yixue.baidu.com]

  Microcephaly sparse hair mental retardation seizures 0 *Alopecia *Intellectual Disability *Microcephaly *Seizures. Jagell Holmgren Hofer syndrome 0 *Alopecia *Ectropion *Ichthyosis *Intellectual Disability *Mouth Abnormalities Lip/abnormalities. [reference.md]

• Dermatitis

  Garret Tripp syndrome 0 *Alopecia *Legg-Calve-Perthes Disease *Intellectual Disability *Dermatitis, Seborrheic *Polydactyly. Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy 0 *Alopecia *Anodontia *Growth Disorders *Optic Atrophy. [reference.md]

  fingers and toes) nail-fold infarction Associations/comments • A/w cardiac vegetations and valvular dysfunction Erythroderma Cutaneous findings • Diffusely red skin, exfoliative dermatitis Associations/comments • A/w high-output cardiac failure • May [plasticsurgerykey.com]

  Acute CLE: nonspecific dermatitis. [dermnetnz.org]

  Clinical clues of global undernutrition in elderly patients include low body weight, muscle wasting, sparse thinning hair, flaking dermatitis, cheilosis angular stomatitis, poor wound healing, and peripheral edema. [78stepshealth.us]

  Eczema Eczema, also known as atopic dermatitis, is generally a mild skin disease and is the most common skin disease in primary immunodeficiency diseases. [primaryimmune.org]

• Dry Skin

  skin - artificial tears for dry eyes -> cyclosporine is 1st line if artificial tears don't work - rituximab: extraglandular Sx. [quizlet.com]

  Irritated, itchy dry skin can be helped by emollients such as Lubriderm, Eucerin, or Curel. Telangiectasias, such as those on the face, can be treated with local laser therapy. Sun exposure should be minimized as it can worsen telangiectasias. [medicinenet.com]

• Kidney Failure

  Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. Year introduced: 2007 (1977) Select item 68009402 7. [ncbi.nlm.nih.gov]

  Aggressive treatments of elevations in blood pressure have been extremely important in preventing kidney failure. [medicinenet.com]

Patients should undergo a diagnostic workup of hepatitis B virus, hepatitis C virus, cytomegalovirus, and tuberculosis infections based on the individual risk, particularly before starting an intensive immunosuppressive treatment. [empendium.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]

Treatment Treatment Options: Some patients have benefitted from renal transplantation. References [disorders.eyes.arizona.edu]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

In another study, after a single treatment, hair reduction ranging from 33 to 60 was observed at 6 months after treatment. [78stepshealth.us]

Treatment Treatment of arthritis typically requires the use of immunosuppressants. Steroids like prednisone are among the most commonly used. [primaryimmune.org]

[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.com]

Prognosis The disease course varies with each individual. The prognosis depends on the extent of complications. Therefore, mortality figures vary enormously. Overall, five-year survival is around 75% and ten-year survival is around 62.5% [ 24 ]. [patient.info]

Complications: o pregnant pts. w antiRo/ SS- A antibodies are @ risk for fetal loss, complete heart block in fetus, neonatal lupus o incidence of Non-Hodgkin lymphoma -> MALT is MC type Prognosis: malignancy w/ rheumatoid disorder presence of lymphoma [quizlet.com]

What is the prognosis (outlook) for patients with scleroderma? A patient's prognosis is optimized with close monitoring of overall health status and treatment of complications, especially elevated blood pressure. [medicinenet.com]

Isolated membranous nephropathy has a far better prognosis, with 10-year renal survival rates between 70% and 100% in studies. [empendium.com]

Systemic lupus erythematosus (SLE) is a chronic, multisystem, inflammatory disorder of autoimmune etiology, occurring predominantly in young women. [msdmanuals.com]

[…] synovial membranes ( pericardial or pleural effusions), blood vessels -> disease has a fluctuating course w/ remissions and exacerbations Epidemiology: - MC rheumatic disease - African Americans - Females of childbearing age ( disease onset 16-55y/o Etiology [quizlet.com]

Definition, Etiology, Pathogenesis Top Systemic lupus erythematosus ( SLE ) is a complex autoimmune disease leading to chronic inflammation of various organs and tissues. The etiology is unknown. [empendium.com]

Warfarin also has been implicated in the etiology of calciphylaxis in patients with end-stage renal disease. It is a poorly understood disorder associated with high morbidity and mortality (60-80%). [emedicine.medscape.com]

[…] inflammatory condition that can affect any tissue and organ of the body ~ skin, joints, kidney ( glomerular nephritis), synovial membranes ( pericardial or pleural effusions), blood vessels -> disease has a fluctuating course w/ remissions and exacerbations Epidemiology [quizlet.com]

Relevant External Links for SOX18 Genetic Association Database (GAD) SOX18 Human Genome Epidemiology (HuGE) Navigator SOX18 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SOX18 No data available for Genatlas for SOX18 Gene cDNA cloning [genecards.org]

Epidemiology [ 1, 2 ] SSc is present throughout the world and is represented in all ethnic groups. Incidence and prevalence figures vary widely and there appears to be a large geographical variation. [patient.info]

Early epidemiologic studies indicated that only 5% to 10% of patients with DLE would progress to fulfill the criteria for SLE, however, a more recent study has quoted a figure of >15%; incidence rates of SLE vary, depending on definition. [empendium.com]

Based on clinical experience and epidemiologic studies, the causes of leg ulceration can be divided into 3 categories: reduction in blood supply to the skin (infarction being the primary cause), local edema, and minor trauma. [emedicine.medscape.com]

Features Cardiac anomaly Feeding difficulties Hypocalcemia Diminished t cell numbers Speech delay Palatal weakness or cleft Renal anomalies Skeletal anomalies Autoimmune disease Pathophysiology There are 22 genes within the commonly deleted region. [dentistryandmedicine.blogspot.com]

It is a powerful bactericidal, biocide, fungicide and natural antibiotic with electrical properties that prevents that the follicle rots for causes of seborrhea, dandruff or other and prevents hair loss. Component #5. [78stepshealth.us]

Is it possible to prevent scleroderma? There is no prevention method or diet to avoid or decrease the risk of scleroderma. Scleroderma Center Medically Reviewed on 1/30/2019 References REFERENCES: Arnett, F. C., et al. [medicinenet.com]

For Raynaud's phenomenon: Prevention - avoid cold and trauma; use warm clothing or heated clothing. [patient.info]

[…] coronary artery aneurysms (potentially fatal) • High fever lasting ≥5 days, cervical lymphadenopathy, truncal rash, hand edema/desquamation, oral findings, and conjunctival injection are diagnostic features • Rx: high dose ASA and IVIG are essential to prevent [plasticsurgerykey.com]

[…] function. • Goals of immunusuppressive treatment: • Long-term preservation of renal function, • Prevention of flares, • Avoidance of treatment-related harms, and • Improved quality of life and survival. 40. [slideshare.net]