Peripheral neuropathy, and Papule
Diseases related with Peripheral neuropathy and Papule
In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Papule that can help you solving undiagnosed cases.
Top matches:
Low match AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009).
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1 Is also known as amyloidosis ix|amyloidosis, familial cutaneous lichen|pca|lichen amyloidosis, familial|amyloidosis, primary cutaneous, 1|pca1
Related symptoms:
- Neoplasm
- Peripheral neuropathy
- Papule
- Pruritus
- Dry skin
More info about AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
Low match SPINOCEREBELLAR ATAXIA TYPE 34
Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia
Related symptoms:
- Ataxia
- Nystagmus
- Strabismus
- Spasticity
- Hyperreflexia
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about SPINOCEREBELLAR ATAXIA TYPE 34Low match NEUROFIBROMATOSIS TYPE 2
Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis
Related symptoms:
- Ataxia
- Sensorineural hearing impairment
- Cataract
- Visual impairment
- Gait disturbance
More info about NEUROFIBROMATOSIS TYPE 2
Too many results?
We can help you with your rare disease diagnosis.
Other less relevant matches:
Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch
Related symptoms:
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Cognitive impairment
- Depressed nasal bridge
SOURCES: OMIM ORPHANET MENDELIAN
More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2Low 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 HETEROPLASIALow 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
More info about BLAU SYNDROME; BLAUS
Low match VESTIBULAR SCHWANNOMA
Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.
VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral
Related symptoms:
- Seizures
- Hearing impairment
- Ataxia
- Neoplasm
- Sensorineural hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about VESTIBULAR SCHWANNOMALow match MASTOCYTOSIS, CUTANEOUS; MASTC
Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).
MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa
Related symptoms:
- Neoplasm
- Pain
- Anemia
- Hypertension
- Hepatomegaly
SOURCES: OMIM ORPHANET MENDELIAN
More info about MASTOCYTOSIS, CUTANEOUS; MASTCLow 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 DEFICIENCYLow 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 SYNDROMETop 5 symptoms//phenotypes associated to Peripheral neuropathy and Papule
| Symptoms // Phenotype | % cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Subcutaneous nodule | Uncommon - Between 30% and 50% cases |
| Skin rash | Uncommon - Between 30% and 50% cases |
| Pain | Uncommon - Between 30% and 50% cases |
| Ataxia | Uncommon - Between 30% and 50% cases |
Accelerate your rare disease diagnosis with us
Other less frequent symptoms
Patients with Peripheral neuropathy and Papule. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Vertigo Headache Fever Hearing impairment Sensorineural hearing impairment Migraine Myalgia Macule Dry skin Hypermelanotic macule Tinnitus Abdominal pain Edema Lymphadenopathy Erythema Visual impairment Splenomegaly Cataract Anemia Gait disturbance Arthritis Hypertension Vasculitis
Rare Symptoms - Less than 30% cases
Telangiectasia Blindness Corneal opacity Bone pain Sensory neuropathy Leukocytosis Leukopenia Cranial nerve paralysis Muscle weakness Increased intracranial pressure Elevated erythrocyte sedimentation rate Nausea Meningioma Abnormality of the retinal vasculature Astrocytoma Dysgraphia Neoplasm of the central nervous system Pseudoepiphyses of the metacarpals Uveitis Occasional neurofibromas Multiple cafe-au-lait spots Neoplasm of the skin Facial palsy Peripheral axonal neuropathy Pruritus Amyloidosis Abnormal cranial nerve morphology Hepatomegaly Constipation Hyperkeratosis Diarrhea Ophthalmoplegia Sarcoma Hypotension Abnormality of the musculature Arthralgia Urticaria Hepatosplenomegaly Myeloproliferative disorder Neuroma Vestibular Schwannoma Decreased corneal sensation Loss of consciousness Abnormality of blood and blood-forming tissues Acute leukemia Flushing Allergy Generalized osteosclerosis Hypersplenism Leukemia Retinal hamartoma Gastrointestinal stroma tumor Immunologic hypersensitivity Spinal cord tumor Asthenia Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Ependymoma Malabsorption Portal hypertension Shock Mononeuropathy Recurrent fractures Arrhythmia Weight loss Thrombocytopenia Gastroesophageal reflux Fatigue Abnormality of the gastric mucosa Ichthyosis Capsular cataract Cirrhosis Tachycardia Ascites Osteoporosis Sudden cardiac death Asthma Juvenile posterior subcapsular lenticular opacities Gastrointestinal hemorrhage Nausea and vomiting Bone marrow hypocellularity Unilateral vestibular Schwannoma Peripheral Schwannoma Osteolysis Bilateral vestibular Schwannoma Abnormal blistering of the skin Hemiplegia Mastocytosis Peripheral demyelination Pericarditis Cellulitis Intestinal obstruction Conjunctivitis Muscle stiffness Meningitis Chest pain Reticulocytosis Bruising susceptibility Hepatic failure Paresthesia Inguinal hernia Hernia Behavioral abnormality Episodic fever Myositis Central retinal artery occlusion Neuritis Hepatic amyloidosis Orchitis Abnormality of the sacroiliac joint Conjunctival hyperemia Optic neuritis Erysipelas Pleuritis Abnormal myocardium morphology Chills Lymphocytosis Periorbital edema Elevated C-reactive protein level Recurrent pharyngitis Peritonitis Vomiting Retinal arterial occlusion Dermatographic urticaria Elevated hepatic transaminase Hemiparesis Pancytopenia Decreased antibody level in blood Paraplegia Stroke Abnormality of the liver Dilatation Purpura Immunodeficiency Optic atrophy Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Foot dorsiflexor weakness Ischemic stroke Lupus anticoagulant Hypercoagulability Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Immune dysregulation Raynaud phenomenon Cortical cataract Thrombocytosis Aphasia Combined immunodeficiency Agitation Cerebral hemorrhage Cutis marmorata Epiretinal membrane Band keratopathy Lisch nodules Opacification of the corneal stroma Intellectual disability, mild Cerebral atrophy Coarse facial features Abnormality of the eye Distal muscle weakness Abnormality of the cerebral white matter Distal sensory impairment Thick vermilion border Polyneuropathy Bilateral sensorineural hearing impairment Cardiomegaly Thick lower lip vermilion Lymphedema Aminoaciduria Axonal degeneration Cognitive impairment Telangiectasia of the skin Abnormality of the periventricular white matter Motor polyneuropathy Progressive distal muscle weakness Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Scoliosis Growth delay Brachydactyly Depressed nasal bridge Benign neoplasm of the central nervous system Scarring Gait ataxia Cutis laxa Scaling skin Neoplasm of the endocrine system Lichenification Lattice corneal dystrophy Cutaneous amyloidosis Nystagmus Strabismus Spasticity Hyperreflexia Dysarthria Cerebellar atrophy Hyporeflexia Babinski sign Abnormal pyramidal sign Supranuclear ophthalmoplegia Neurological speech impairment Facial asymmetry Abnormality of movement Progressive cerebellar ataxia Abnormality of the skin Intention tremor Hypohidrosis Limb ataxia Fasciculations Macular degeneration Dysdiadochokinesis Orthostatic hypotension Impaired smooth pursuit Supranuclear gaze palsy Obesity Nevus Schwannoma Nongranulomatous uveitis Juvenile rheumatoid arthritis Synovitis Cystoid macular edema Abducens palsy Flexion contracture of toe Granulomatosis Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Seizures Joint swelling Visual loss Reduced visual acuity Paralysis Generalized muscle weakness Progressive visual loss Cafe-au-lait spot Sensorimotor neuropathy Progressive hearing impairment Oral-pharyngeal dysphagia Neurofibromas Hamartoma Axonal loss Subcapsular cataract Posterior subcapsular cataract Macular edema Optic neuropathy Limitation of joint mobility Osteoma Short metacarpal Osteoarthritis Thickened skin Short metatarsal Melanocytic nevus Celiac disease Ankylosis Calcinosis Constrictive median neuropathy Pseudohypoparathyroidism Ectopic calcification Numerous nevi Ectopic ossification Abnormality of the parathyroid gland Osteoma cutis Abnormal joint morphology Ectopic ossification in muscle tissue Failure to thrive Flexion contracture Glaucoma Camptodactyly Autoimmunity Camptodactyly of finger Eczema Inflammatory abnormality of the skin Skin ulcer Hypercalcemia Rheumatoid arthritis Increased antibody level in blood Abnormality of the ear Fasciitis
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Hypertonia, related diseases and genetic alterations Macrocephaly and Hypotelorism, related diseases and genetic alterations High palate and Macrocephaly, related diseases and genetic alterations Immunodeficiency and Eczema, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
