Arthritis, and Erythema

Diseases related with Arthritis and Erythema

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


Top matches:

Low match AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7


AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 Is also known as agammaglobulinemia, autosomal recessive, due to pik3r1 defect

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Arthritis
  • Erythema
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match FAMILIAL COLD URTICARIA


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

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Other less relevant matches:

Low match GENERALIZED PUSTULAR PSORIASIS


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

Low match NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME


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

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3


Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


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

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Erythema

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Skin rash Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Urticaria Pain Lymphadenopathy Recurrent infections Abdominal pain Scarring Neoplasm Flexion contracture

Rare Symptoms - Less than 30% cases


Hypermelanotic macule Short stature Myalgia Conjunctivitis Osteoporosis Leukocytosis Splenomegaly Sinusitis Generalized lymphadenopathy Lymphocytosis Anemia Immunodeficiency Recurrent sinusitis Increased antibody level in blood Hepatosplenomegaly Autoimmunity Thrombocytopenia Episodic fever Hyperhidrosis Pectus excavatum Inflammatory abnormality of the skin Fatigue Sensorineural hearing impairment Lipodystrophy IgA deficiency Recurrent pneumonia Scaling skin Emotional lability Pulmonary fibrosis Gingival recession Restrictive ventilatory defect Interstitial pulmonary abnormality Premature loss of permanent teeth Bronchitis IgG deficiency Palmoplantar cutis laxa Telangiectasia Chronic sinusitis Mild global developmental delay Recurrent viral infections Hypercholesterolemia Demyelinating peripheral neuropathy Cigarette-paper scars IgM deficiency Conjunctival telangiectasia Elevated alpha-fetoprotein Intestinal perforation Clumsiness Keratitis Global developmental delay Atrophy of alveolar ridges Microcytic anemia Myositis Calcinosis Bronchiolitis Hypochromic anemia Panniculitis Bronchiolitis obliterans Finger swelling Bronchiolitis obliterans organizing pneumonia Severe periodontitis Abnormal lung morphology Microcephaly Ataxia Abnormal facial shape Gait disturbance Diarrhea Respiratory failure Weight loss Abnormality of the cerebral white matter Dry skin Otitis media Enuresis nocturna Specific learning disability Increased sensitivity to ionizing radiation Poor wound healing Vasculitis Microdontia Blue sclerae Fine hair Osteoarthritis Thin skin Mitral regurgitation Tall stature Premature loss of teeth Gingival overgrowth Hoarse voice Joint dislocation Joint hypermobility Osteolysis Striae distensae Cutis laxa Hyperextensible skin Dermal atrophy Abnormal joint morphology Fragile skin Agenesis of permanent teeth Atrophic scars Long nose Skin vesicle Bruising susceptibility Arachnodactyly Intraventricular hemorrhage Gingivitis Premature loss of primary teeth Chronic pain Mitral stenosis Generalized joint laxity Neonatal asphyxia Periodontitis Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Scoliosis Micrognathia Edema Abnormality of the dentition Joint hyperflexibility Dilatation Hypertriglyceridemia Hernia Inguinal hernia Soft skin Subarachnoid hemorrhage Umbilical hernia Gingival bleeding Pes planus Joint laxity Carious teeth Lymphopenia Arthropathy Cerebral calcification Chills Nail dystrophy Nausea Nail dysplasia Epidermal acanthosis Psoriasiform dermatitis Osteomyelitis Pustule Parakeratosis Furrowed tongue Cholangitis Neutrophilia Dysesthesia Asthenia Periostitis Palmoplantar pustulosis Geographic tongue Oligoarthritis Intellectual disability Hearing impairment Vomiting Chest pain Bilateral sensorineural hearing impairment Recurrent aphthous stomatitis Muscle weakness Polydipsia Lower limb pain Spinal muscular atrophy Neutropenia Inflammation of the large intestine Agammaglobulinemia Juvenile rheumatoid arthritis Erythema nodosum Skeletal muscle atrophy Alopecia Papule Hypotrichosis Ichthyosis Sparse eyebrow Epiphora Dehydration Aplasia/Hypoplasia of the skin Atopic dermatitis Absent eyelashes Abnormal eyebrow morphology Follicular hyperkeratosis Folliculitis Comedo Sunken cheeks Abnormal perifollicular morphology Pruritus Nausea and vomiting Elevated C-reactive protein level Neuritis Elevated hepatic transaminase Heart block Palmoplantar hyperkeratosis Redundant skin Patent foramen ovale Clubbing Acne Disproportionate tall stature Thickened calvaria Recurrent respiratory infections Growth hormone excess Joint swelling Flushing Thickened skin Osteolytic defects of the phalanges of the hand Clubbing of fingers Seborrheic dermatitis Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Periostosis Subperiosteal bone formation Failure to thrive Dysphagia Wormian bones Large fontanelles Limb pain Autoimmune thrombocytopenia Malar rash Optic neuritis Hepatomegaly Hemolytic anemia Nephrotic syndrome Purpura Shock Systemic lupus erythematosus Glomerulonephritis Elevated erythrocyte sedimentation rate Thyroiditis Lymphoproliferative disorder Limitation of joint mobility Immune dysregulation Membranous nephropathy Growth delay Cleft palate Ptosis High palate Patent ductus arteriosus Abnormal heart morphology Delayed skeletal maturation Osteopenia Coarse facial features Alveolar bone loss around teeth



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