Arthritis, and Papule

Diseases related with Arthritis and Papule

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


Top matches:

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 YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Low match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

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Other less relevant matches:

Low match PROGRESSIVE OSSEOUS HETEROPLASIA


Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.

PROGRESSIVE OSSEOUS HETEROPLASIA Is also known as familial ectopic ossification|ectopic ossification, familial|poh|osteoma cutis

Related symptoms:

  • Scoliosis
  • Growth delay
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROGRESSIVE OSSEOUS HETEROPLASIA

Low match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME


Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Papule

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Uveitis Uncommon - Between 30% and 50% cases
Myalgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Edema Splenomegaly Arthralgia Vasculitis Anemia Elevated erythrocyte sedimentation rate Visual impairment Autoimmunity Hypertension Subcutaneous nodule Growth delay Diarrhea Hepatosplenomegaly Hearing impairment Abdominal pain Inflammatory abnormality of the skin Scarring Leukocytosis Lymphadenopathy

Rare Symptoms - Less than 30% cases


Blindness Bruising susceptibility Inguinal hernia Atrophic scars Neoplasm Brachydactyly Nevus Osteoarthritis Hernia Hepatomegaly Bone pain Macule Hypermelanotic macule Elevated C-reactive protein level Headache Abnormal facial shape Flexion contracture Migraine Meningitis Purpura Juvenile rheumatoid arthritis Peripheral neuropathy Amyloidosis Abnormal joint morphology Skeletal muscle atrophy Skeletal dysplasia Comedo Pleuritis Erythema Chest pain Camptodactyly Episodic fever Failure to thrive Pericarditis Keratoconjunctivitis sicca Follicular hyperkeratosis Fatigue Macrocephaly Abnormality of the sacroiliac joint Conjunctival hyperemia Frontal bossing Sensorineural hearing impairment Proptosis EEG abnormality Nausea and vomiting Premature birth Optic neuritis Erysipelas Overgrowth Neuritis Joint dislocation Chills Increased intracranial pressure Reduced bone mineral density Urticaria Lymphocytosis Progressive sensorineural hearing impairment Periorbital edema Arthropathy Orchitis Nausea Global developmental delay Cutaneous finger syndactyly Palmoplantar keratoderma Recurrent fractures Abnormality of the metaphysis Abnormality of epiphysis morphology Lymphedema Hoarse voice Hemangioma Flat occiput Hyperostosis Multiple lipomas Scleroderma Atypical scarring of skin Abnormal thrombocyte morphology Generalized hypopigmentation Abnormal cortical bone morphology Generalized osteosclerosis Abnormal aortic morphology Generalized limb muscle atrophy Abnormal bone structure Osteopoikilosis Connective tissue nevi Hepatic amyloidosis Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Intellectual disability Abnormality of neutrophils Delayed closure of the anterior fontanelle Granulocytopenia Cerebral hemorrhage Agitation Conjunctivitis Combined immunodeficiency Aphasia Muscle stiffness Thrombocytosis Peripheral demyelination Raynaud phenomenon Hypercoagulability Immune dysregulation Erythema nodosum Hemiplegia Antiphospholipid antibody positivity Panniculitis Pure red cell aplasia Lupus anticoagulant Retinal arterial occlusion Central retinal artery occlusion Vomiting Behavioral abnormality Constipation Paresthesia Hepatic failure Cutis marmorata Cranial nerve paralysis Recurrent pharyngitis Immunodeficiency Inflammatory abnormality of the eye Vertigo Pseudopapilledema Peritonitis Retrobulbar optic neuritis Abnormal granulocyte morphology Ataxia Optic atrophy Abnormal myocardium morphology Myositis Reticulocytosis Cellulitis Craniosynostosis Intestinal obstruction Dilatation Elevated hepatic transaminase Abnormality of the liver Stroke Ophthalmoplegia Paraplegia Decreased antibody level in blood Pancytopenia Hemiparesis Foot dorsiflexor weakness Leukopenia Ischemic stroke Osteopenia Joint stiffness Thickened skin Autoimmune hemolytic anemia Thyroiditis Antinuclear antibody positivity Villous atrophy Corneal neovascularization Increased IgA level Polyarticular arthritis Punctate keratitis Scoliosis Obesity Limitation of joint mobility Short metacarpal Sarcoma Chronic diarrhea Short metatarsal Melanocytic nevus Celiac disease Abnormality of the musculature Ankylosis Calcinosis Constrictive median neuropathy Pseudohypoparathyroidism Ectopic calcification Numerous nevi Ectopic ossification Abnormality of the parathyroid gland Keratitis Epidermal acanthosis Osteoma cutis Abnormal perifollicular morphology Alopecia Hypotrichosis Ichthyosis Sparse eyebrow Spinal muscular atrophy Epiphora Aplasia/Hypoplasia of the skin Atopic dermatitis Absent eyelashes Abnormal eyebrow morphology Folliculitis Sunken cheeks Weight loss Hemolytic anemia Asthma Ventricular hypertrophy Nephrolithiasis Blurred vision Xerostomia Episodic abdominal pain Oral ulcer Respiratory insufficiency Hyperhidrosis Hyperkeratosis Photophobia Dry skin Osteoma Ectopic ossification in muscle tissue Renal insufficiency Redundant skin Short neck Osteoporosis Macrotia Pectus excavatum Pes planus Hip dislocation Webbed neck Mitral valve prolapse Low posterior hairline Narrow palate Cutis laxa Hyperextensible skin Bilateral ptosis Ptosis Hallux valgus Thoracic scoliosis Abnormality of the vasculature Thin eyebrow Knee dislocation Squared iliac bones Shoulder dislocation Ventral hernia Bursitis Short stature Strabismus Abnormality of the dentition Abnormality of the skeletal system Cryptorchidism Cataract Synovitis Glaucoma Camptodactyly of finger Eczema Skin ulcer Hypercalcemia Rheumatoid arthritis Increased antibody level in blood Abnormality of the ear Optic neuropathy Joint swelling Abnormal cranial nerve morphology Macular edema Cystoid macular edema Micrognathia Abducens palsy Flexion contracture of toe Granulomatosis Band keratopathy Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Fasciitis



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