Dysarthria, and Abnormal blistering of the skin

Diseases related with Dysarthria and Abnormal blistering of the skin

In the following list you will find some of the most common rare diseases related to Dysarthria and Abnormal blistering of the skin that can help you solving undiagnosed cases.

Top matches:

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Other less relevant matches:

Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME Is also known as aplasia cutis congenita with gastrointestinal atresia|epidermolysis bullosa, junctional, with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|eb-pa-acc|carmi syndrome|jeb-pa|junctional epidermolysis bull

Related symptoms:

  • Diarrhea
  • Polyhydramnios
  • Hydronephrosis
  • Nail dystrophy
  • Arthrogryposis multiplex congenita


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

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; MASTC

Top 5 symptoms//phenotypes associated to Dysarthria and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Fragile skin Uncommon - Between 30% and 50% cases
Confusion Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Abnormal blistering of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hallucinations Short stature Growth delay Muscle weakness Cutaneous photosensitivity Tachycardia Nausea and vomiting Scarring Abdominal pain Nausea Milia Insomnia Anxiety Nail dystrophy Anemia Alopecia Hyperkeratosis Ichthyosis Psychosis Hypertension Depressivity Hypertrichosis Nystagmus Hypermelanotic macule Cognitive impairment Constipation Pain Hepatomegaly Papule Gastroesophageal reflux

Rare Symptoms - Less than 30% cases

Muscle flaccidity Cardiomyopathy Nail dysplasia Recurrent skin infections Carious teeth Visual hallucinations Hydronephrosis Dilated cardiomyopathy Myopathy Fatigue Hypoplasia of dental enamel Abnormality of the kidney Erythema Palmoplantar keratoderma Pyloric stenosis Paranoia Neoplasm Telangiectasia Ventricular hypertrophy Thin skin Splenomegaly Hepatosplenomegaly Urethral stricture Cataract Vomiting Arrhythmia Anonychia Arthralgia Abnormality of the skeletal system Myalgia Hypotension Skin vesicle Behavioral abnormality Dysphasia Clinodactyly Peripheral neuropathy Pruritus Weight loss Palmoplantar hyperkeratosis Paralysis Hyperhidrosis Delusions High palate Strabismus Absent speech Fever Muscular hypotonia Hydrocephalus Headache Gait disturbance Carcinoma EEG abnormality Abnormality of the eye Skin rash Malabsorption Generalized hypotonia Abnormality of vision Aggressive behavior Hypopigmented skin patches Global developmental delay Ptosis Cirrhosis Hepatic steatosis Dysphagia Abnormal renal physiology Abnormal left ventricle morphology Cutaneous mastocytosis Biliary tract abnormality Colpocephaly Osteoporosis Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Abnormality of chromosome stability Left ventricular noncompaction Redundant neck skin Volvulus Dermatographic urticaria Abnormality of female external genitalia Cavum septum pellucidum Annular pancreas Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Aortic arch aneurysm Periventricular leukomalacia Mastocytosis Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Dilation of lateral ventricles Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Delayed CNS myelination Missing ribs Abnormality of the testis Self-injurious behavior Abnormal heart valve morphology Infantile spasms High hypermetropia Macule Polyphagia Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Hand polydactyly Absent septum pellucidum Failure to thrive in infancy Patent foramen ovale Chronic leukemia Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Abnormality of the immune system Telangiectasia of the skin 11 pairs of ribs Hiatus hernia Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Bifid ribs Anaphylactic shock Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Self-mutilation Slender long bone Arnold-Chiari type I malformation Overweight Epileptic spasms Abnormal lung lobation Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Neuroblastoma Hypoplastic female external genitalia Abnormality of the cerebral ventricles Ebstein anomaly of the tricuspid valve Orthostatic hypotension Sudden cardiac death Asthma Gastrointestinal hemorrhage Prolonged neonatal jaundice Bone pain Bone marrow hypocellularity Osteolysis Leukopenia Shock Hyponatremia Auditory hallucinations Sarcoma Urticaria Metabolic acidosis Portal hypertension Hemolytic anemia Loss of consciousness Paresthesia Abnormality of blood and blood-forming tissues Irritability Acute leukemia Ileus Delirium Elevated hepatic transaminase Aspiration Edema Porphyrinuria Premature adrenarche Dark urine Motor polyneuropathy Neoplasm of the liver Hepatocellular carcinoma Restlessness Agitation Chronic kidney disease Tetraplegia Congenital hemolytic anemia Hypopigmentation of the skin Leukemia Acute episodes of neuropathic symptoms Red urine Abdominal colic Respiratory paralysis Compensated hemolytic anemia Lymphadenopathy Recurrent fractures Ascites Flushing Allergy Abnormality of the femoral neck Arthrogryposis multiplex congenita Esophageal atresia Abnormality of the gastric mucosa Aplasia cutis congenita Atrophic scars Ectropion Pterygium Abnormality of the genitourinary system Renal dysplasia Abdominal distention Hematuria Polyhydramnios Oral mucosal blisters Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Thrombocytopenia Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Intestinal atresia Renal duplication Jaundice Impaired temperature sensation Generalized osteosclerosis Acidosis Myeloproliferative disorder Areflexia Hypersplenism Abnormality of metabolism/homeostasis Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Abnormal intestine morphology Abnormal eosinophil morphology Ureterocele Junctional split Elevated maternal serum alpha-fetoprotein Urinary bladder inflammation Food intolerance Congenital pyloric atresia Aplasia of the bladder Congenital localized absence of skin Elevated amniotic fluid alpha-fetoprotein Axillary pterygium Intractable diarrhea Cranial nerve paralysis Neurological speech impairment Spastic tetraparesis Abnormality of mitochondrial metabolism Echolalia Nemaline bodies Severe postnatal growth retardation Lipoma Fatigable weakness Aplasia/Hypoplasia of the skin Aphasia Keratitis Neonatal respiratory distress Ophthalmoparesis Dermal atrophy Increased connective tissue Mutism Ventricular tachycardia Abnormality of dental enamel Progressive muscle weakness Left ventricular hypertrophy Ophthalmoplegia Hypotrichosis Muscular dystrophy Facial palsy Pneumonia Elevated serum creatine phosphokinase Hypoplastic fingernail Oculomotor nerve palsy Tongue nodules Heat intolerance Abnormality of the fingernails Abnormality of the nail Abnormality of the hair Abnormality of the dentition Respiratory insufficiency Conjunctival hamartoma Hypernatremic dehydration Hypernatremia Congenital bullous ichthyosiform erythroderma Generalized hyperkeratosis Disseminated intravascular coagulation Poor appetite Scarring alopecia of scalp Congenital ichthyosiform erythroderma Erythroderma Scaling skin Skin ulcer Epidermal acanthosis Dehydration Ectodermal dysplasia Sepsis Punctate keratitis Decreased miniature endplate potentials Hyperconvex fingernails Bilateral intracranial calcifications Hoarse cry Laryngomalacia Inflammatory abnormality of the skin Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Irregular hyperpigmentation Emotional lability Encephalitis Aminoaciduria Diplopia Chronic diarrhea Aciduria Glossitis Migraine Vertigo Unsteady gait Photophobia Gait ataxia Hypertonia Tremor Hyperreflexia Spasticity Ataxia Mood changes Neural tube defect Abnormality of the gingiva Thickened skin Patchy alopecia Abnormal oral mucosa morphology Nasal polyposis Verrucae Microglossia Pustule Alopecia of scalp Acne Oral-pharyngeal dysphagia Oligodontia Hoarse voice Subcutaneous nodule Hyperphenylalaninemia Thick lower lip vermilion Cerebral calcification Memory impairment Respiratory tract infection Abnormality of the nervous system Recurrent respiratory infections Dystonia Respiratory distress Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Corneal dystrophy Natal tooth Narrow palpebral fissure Abnormal cardiac septum morphology Polymicrogyria Oral cleft Cleft upper lip Poor speech Synophrys Hypermetropia Abnormality of the cerebral white matter Small for gestational age Microtia Camptodactyly of finger Coloboma Renal cyst Blepharophimosis Abnormality of the liver Joint stiffness Abnormality of the pinna Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Neonatal hypotonia Conductive hearing impairment Deeply set eye Mandibular prognathia Short foot Bifid uvula Autism Tetraparesis Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Large fontanelles Decreased body weight Heterotopia Pachygyria Mitral regurgitation Depressed nasal ridge Interphalangeal joint contracture of finger Brain atrophy Hypsarrhythmia Abnormality of the ribs Coarctation of aorta Optic disc pallor Hypoplasia of penis Tetralogy of Fallot Epileptic encephalopathy Hip dysplasia Abnormality of the skin Intestinal malrotation Delayed myelination Hypothyroidism Narrow mouth Hamartoma Sensorineural hearing impairment Wide nasal bridge Brachydactyly Epicanthus Depressed nasal bridge Visual impairment Delayed speech and language development Feeding difficulties Low-set ears Cryptorchidism Cleft palate Abnormal facial shape Micrognathia Optic atrophy Failure to thrive Hypertelorism Scoliosis Microcephaly Hearing impairment Steatocystoma multiplex Abnormality of nail color Skin plaque Epidermoid cyst Thick nail Oral leukoplakia Myopia Downslanted palpebral fissures Micropenis Hypospadias Cerebral cortical atrophy Brachycephaly Hypogonadism Upslanted palpebral fissure Prominent forehead Posteriorly rotated ears Pes cavus Agenesis of corpus callosum Clinodactyly of the 5th finger Delayed skeletal maturation Patent ductus arteriosus Obesity Frontal bossing Abnormality of cardiovascular system morphology Midface retrusion Cerebral atrophy Malar flattening Long philtrum Kyphosis Atrial septal defect Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Ventricular septal defect Telangiectasia macularis eruptiva perstans


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