Fever, and Erythema

Diseases related with Fever and Erythema

In the following list you will find some of the most common rare diseases related to Fever and Erythema that can help you solving undiagnosed cases.

Top matches:

PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

Other less relevant matches:

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.

NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME Is also known as familial cold autoinflammatory syndrome type 2|naps12|fcas2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Top 5 symptoms//phenotypes associated to Fever and Erythema

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Erythema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Hepatitis Pneumonia Immunodeficiency Arthritis Anemia Myalgia Urticaria Nail dystrophy Lymphadenopathy Pruritus Autoimmunity

Rare Symptoms - Less than 30% cases

Renal insufficiency Proteinuria Failure to thrive Hypertriglyceridemia Hematuria Meningitis Keratitis Epidermal acanthosis Respiratory tract infection Hepatosplenomegaly Inflammatory abnormality of the skin Malar rash Splenomegaly Leukocytosis Pustule Scarring Immune dysregulation Abdominal pain Conjunctivitis Lymphopenia Increased antibody level in blood Chills Sensorineural hearing impairment Interstitial pulmonary abnormality Myositis Abnormal lung morphology Fatigue Respiratory distress Crossed fused renal ectopia Muscular hypotonia Hypertelorism Decreased glomerular filtration rate Respiratory acidosis Junctional split Onycholysis Tubular atrophy Fragile skin Prominent forehead Narrow mouth Ectopic kidney Gynecomastia Abnormal blistering of the skin Behavioral abnormality Nephrotic syndrome Fine hair Round face Sparse scalp hair Sparse and thin eyebrow Recurrent pneumonia Focal segmental glomerulosclerosis Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Narrow chest Macrotia Neonatal respiratory distress Cyanosis Seizures Abnormality of the immune system Hyperkeratosis Sinusitis Abnormal lip morphology Dyspareunia Broad nail Chronic oral candidiasis Flexion contracture Dysphagia Thrombocytopenia Elevated hepatic transaminase Cerebral calcification Hypercholesterolemia Abnormality of temperature regulation Lipodystrophy Hypermelanotic macule Microcytic anemia Calcinosis Bronchiolitis Hypochromic anemia Panniculitis Bronchiolitis obliterans Finger swelling Onychomycosis Abnormal endocardium morphology Abnormality of the eye Abnormality of the fingernails Feeding difficulties in infancy Cough Papule Abnormality of the skin Eczema Recurrent urinary tract infections Skin ulcer Abnormality of the nail Abnormality of dental enamel Abnormality of vision Recurrent fungal infections Fasciitis Abnormality of blood and blood-forming tissues Hemoptysis Abnormality of the mouth Abnormal toenail morphology Chronic mucocutaneous candidiasis Abnormal vagina morphology Lichenification Cheilitis Microcephaly Dysgammaglobulinemia Follicular hyperplasia Systemic lupus erythematosus Asthenia Periostitis Palmoplantar pustulosis Geographic tongue Oligoarthritis Cataract Nephropathy Glomerulonephritis Cholangitis Glomerulopathy Microscopic hematuria Facial erythema Membranoproliferative glomerulonephritis IgA deposition in the glomerulus Macroscopic hematuria Discoid lupus rash Neutrophilia Furrowed tongue Decreased serum complement factor I Hyperhidrosis Asthma Syncope Hashimoto thyroiditis Vitiligo Allergic rhinitis Angioedema Cold urticaria Nausea and vomiting Parakeratosis Dehydration Polydipsia Dysesthesia Muscle weakness Nausea Nail dysplasia Psoriasiform dermatitis Osteomyelitis Loss of eyelashes Intellectual disability Low-grade fever Decreased body weight Aplastic anemia Hemophagocytosis Folliculitis Erythema nodosum Hypofibrinogenemia Growth delay Joint stiffness Telangiectasia Increased serum ferritin Leukopenia Tachypnea Cutis marmorata Pulmonary fibrosis Elevated erythrocyte sedimentation rate Thrombocytosis Raynaud phenomenon Antinuclear antibody positivity Abnormality of the gastrointestinal tract Colitis Hearing impairment Lower limb pain Vomiting Chest pain Bilateral sensorineural hearing impairment Episodic fever Recurrent aphthous stomatitis Elevated C-reactive protein level Lymphocytosis Neuritis Inflammation of the large intestine Limb pain Optic neuritis Irritability Lymphoma Decreased antibody level in blood Pancytopenia Recurrent skin infections Acne Bronchiolitis obliterans organizing pneumonia


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