Fever, and Nevus

Diseases related with Fever and Nevus

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

Top matches:

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Other less relevant matches:

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Top 5 symptoms//phenotypes associated to Fever and Nevus

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Optic atrophy Pain Hyperkeratosis Cataract Global developmental delay Strabismus Ataxia Immunodeficiency Short stature Anemia Abnormality of skin pigmentation Cognitive impairment Developmental regression Melanocytic nevus Recurrent infections Hypermelanotic macule Microcephaly Gliosis Carcinoma Spasticity Malabsorption Abnormality of the dentition Kyphoscoliosis Growth delay Generalized hypotonia Kyphosis Abnormal facial shape Muscular hypotonia Cerebellar atrophy Vomiting Splenomegaly Hyporeflexia Hypertension Thrombocytopenia Macule Fatigue Lymphadenopathy Abdominal pain Lymphedema

Rare Symptoms - Less than 30% cases

Gait disturbance EEG abnormality Constipation Macrocephaly Ptosis Abnormality of the vasculature Hyperostosis Keratitis Coarse hair Hyperpigmentation of the skin Fine hair Decreased testicular size Tetraplegia Hypopigmentation of the skin Emphysema Skin rash Scarring Hyperhidrosis Erythema Thickened skin Abnormal vertebral morphology Alopecia Visual loss Bone marrow hypocellularity Melanoma Gastrointestinal hemorrhage Abnormal lung morphology Dolichocephaly Tremor Cough Peripheral neuropathy Photophobia Mental deterioration Dyspnea Neutropenia Brain atrophy Lymphoma Peripheral demyelination Abnormality of extrapyramidal motor function Cutaneous photosensitivity Leukemia Visual impairment Sudden cardiac death Hepatosplenomegaly Arthralgia Cerebral cortical atrophy Delayed skeletal maturation Respiratory failure Diarrhea Generalized hyperpigmentation Edema Downslanted palpebral fissures Hepatomegaly Low-set ears Opacification of the corneal stroma Recurrent respiratory infections Neurofibromas Hip dislocation Depressed nasal bridge Lymphopenia Motor delay Generalized hypopigmentation Osteopenia Macroorchidism Abnormality of the eye Stroke Papule Confusion Short neck Heterotopia Cardiomyopathy Hyperlordosis Respiratory distress Reduced bone mineral density Freckling Headache Encephalitis Precocious puberty Dementia Hypothyroidism Hydrocephalus Myopia Hemangioma Muscle weakness Congestive heart failure Multiple cafe-au-lait spots Abnormal form of the vertebral bodies Testicular neoplasm Retinal hamartoma Weight loss Multiple lentigines Facial asymmetry Polymicrogyria Reduced number of teeth Long face Azoospermia Intellectual disability, profound Chronic kidney disease Growth abnormality Carious teeth Lumbar hyperlordosis Finger syndactyly Cachexia Lipodystrophy Hyperlipidemia Open mouth Atherosclerosis High myopia Abnormality of epiphysis morphology Abnormality of retinal pigmentation Sinusitis Abnormality of the nail Generalized hirsutism Abnormality of dental enamel Epidermal acanthosis Overgrowth Palmoplantar hyperkeratosis Venous thrombosis Abnormality of the metacarpal bones Goiter Decreased antibody level in blood Round face Abdominal distention Subcutaneous nodule Renal cyst Lymphoproliferative disorder Craniosynostosis Steatorrhea Glomerulonephritis Hypoplasia of the capital femoral epiphysis Nephritis Spondyloepiphyseal dysplasia Arteriosclerosis Right ventricular cardiomyopathy Focal segmental glomerulosclerosis Cellular immunodeficiency High pitched voice Combined immunodeficiency Glomerulopathy Chorioretinal coloboma Protuberant abdomen Transient ischemic attack Thoracic kyphosis Ovoid vertebral bodies Dentinogenesis imperfecta Subvalvular aortic stenosis Disproportionate short-trunk short stature B-cell lymphoma Precocious atherosclerosis Cerebral ischemia Mucopolysacchariduria Steroid-resistant nephrotic syndrome Joint stiffness Anteverted nares Intellectual disability, moderate Skeletal dysplasia Villous atrophy Glomerulosclerosis Macrotia Proptosis Glaucoma Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Syndactyly Hypertelorism Shallow acetabular fossae Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Epiphyseal dysplasia Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Oral-pharyngeal dysphagia Arteriovenous malformation Diabetes insipidus Hypothermia High palate Abnormality of the palpebral fissures Hyperkeratosis pilaris Heat intolerance Curly hair Pulmonic stenosis Wide mouth Muscle fibrillation Atrophy/Degeneration affecting the brainstem Drowsiness Increased CSF protein Poor coordination Megalencephaly Bulbar signs Hyperreflexia Aqueductal stenosis Postnatal growth retardation Hypersomnia Large face Hypertrophic cardiomyopathy Abnormal heart morphology Pectus excavatum Hypoplasia of the corpus callosum Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Feeding difficulties Dysarthria Abnormal subcutaneous fat tissue distribution Hypotension Dysphonia Sleep apnea Emotional lability Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Dysphasia Leukodystrophy Bowel incontinence Clonus Diplopia Cerebral calcification Amenorrhea Chorea Frontal bossing Sleep disturbance Dysmetria Abnormality of eye movement Progressive spasticity Nausea and vomiting Abnormality of the cerebral white matter Neurological speech impairment Abnormal pyramidal sign Facial palsy Diabetes mellitus Agenesis of corpus callosum Depressivity Respiratory insufficiency Dysphagia Neoplasm of the thymus Retinal nonattachment Decreased muscle mass Spinal cord compression Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Self-injurious behavior Varicose veins Deep venous thrombosis Meningioma Abnormality of the wrist Abnormality of finger Capillary hemangioma Long penis Papilledema Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Ovarian neoplasm Hamartoma Multiple lipomas Pericardial effusion Disproportionate tall stature Hallux valgus Thin bony cortex Visceral angiomatosis Bronchogenic cyst Nephrogenic diabetes insipidus Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Upper limb asymmetry Keloids Epibulbar dermoid Thick nasal alae Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Pseudobulbar signs Progressive macrocephaly Recurrent singultus Thrombophlebitis Hyperpigmented nevi Microcoria Vascular skin abnormality Microdontia Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Nephrotic syndrome Cryptorchidism Waddling gait Eosinophilia Breast hypoplasia Generalized osteosclerosis Thick nail Ridged nail Conical tooth Anodontia Hypoplasia of the fovea Pustule Uveitis Hypoplastic nipples Supernumerary nipple Hemivertebrae Supernumerary ribs Increased bone mineral density Abnormal blistering of the skin Nail dysplasia Ectodermal dysplasia Hypodontia Delayed eruption of teeth Retinal detachment Nail dystrophy Sparse hair Pallor Microphthalmia Breast aplasia Scarring alopecia of scalp Myxoid subcutaneous tumors Abnormality of the nervous system Clumsiness Blue sclerae Underdeveloped nasal alae Aciduria Progressive cerebellar ataxia Triangular face Metabolic acidosis Retinal dystrophy Lactic acidosis Abnormality of the liver Low-set, posteriorly rotated ears Elevated hepatic transaminase Hypohidrotic ectodermal dysplasia Hypoglycemia Acidosis Posteriorly rotated ears Elevated serum creatine phosphokinase Obesity Cerebral atrophy Myopathy Atrophic, patchy alopecia Retinal vascular proliferation Hyperpigmented streaks Nail pits Retinal hemorrhage Cutaneous myxoma Thyroid follicular hyperplasia Leukocytosis Bronchiolitis Osteoporosis Chylopericardium Pulmonary lymphangiomyomatosis Cystic lung disease Ungual fibroma Renal angiomyolipoma Bronchiolitis obliterans Shagreen patch Abnormal urinary color Abnormality of the lymphatic system Chylothorax Pneumothorax Myalgia Abnormality of female internal genitalia Atelectasis Renal neoplasm Multiple renal cysts Pulmonary infiltrates Hemoptysis Restrictive ventilatory defect Nephroblastoma Myocardial infarction Chest pain Ascites Hematuria Proximal muscle weakness Hirsutism Profuse pigmented skin lesions Pituitary adenoma Cardiac myxoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Pituitary prolactin cell adenoma Fibroma Red hair Schwannoma Paraganglioma Pheochromocytoma Thyroid carcinoma Blue irides Abnormality of the skin Increased circulating cortisol level Bipolar affective disorder Growth hormone excess Striae distensae Heart murmur Sarcoma Ischemic stroke Increased body weight Gynecomastia Cafe-au-lait spot Tall stature Palpitations Large fontanelles Petechiae Premature birth Hypogonadism Dermal atrophy Hypopigmented skin patches Reduced tendon reflexes Neoplasm of the skin Intellectual disability, progressive Conjunctivitis Aminoaciduria Telangiectasia Thin skin Choreoathetosis Dry skin Sensorineural hearing impairment Ectropion Hearing impairment Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Pterygium Squamous cell carcinoma Progressive peripheral neuropathy Thin upper lip vermilion Migraine Abnormal cerebellum morphology Nephropathy Bulbous nose Stage 5 chronic kidney disease Astigmatism Platyspondyly Corneal opacity Autoimmunity Abnormality of the kidney Proteinuria Pneumonia Telangiectasia of the skin Renal insufficiency Intrauterine growth retardation Flat nasal alae Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Papilloma Conjunctival telangiectasia Entropion Craniofacial hyperostosis Poikiloderma Blepharitis Hypersplenism Hemophagocytosis Severe failure to thrive Normocytic hypoplastic anemia Paresthesia Paraplegia Abnormality of movement Spastic paraplegia Rigidity Difficulty walking Jaundice Reduced visual acuity Areflexia Atrial septal defect Skeletal muscle atrophy Fluctuating splenomegaly Falls Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Peripheral axonal neuropathy Bruising susceptibility Spinocerebellar tract degeneration Decreased nerve conduction velocity White hair Fair hair Periodontitis Gingivitis Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Albinism Abnormality of vision Sensory neuropathy Cranial nerve paralysis Leukopenia Foot dorsiflexor weakness Skin ulcer Amblyopia Hypertriglyceridemia Epistaxis Pancytopenia Bradykinesia Parkinsonism Abnormal bleeding Neurodegeneration Diffuse demyelination of the cerebral white matter


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