Hearing impairment, and Erythema

Diseases related with Hearing impairment and Erythema

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

Top matches:

Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.

KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS Is also known as keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|loricrin keratoderma|vohwinkel syndrome with ichthyosis|camisa disease|mutilating keratoderma with ichthyosis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hyperkeratosis
  • Erythema
  • Nail dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS

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

For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Other less relevant matches:

Low match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK 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

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.

POLYCYTHEMIA VERA Is also known as polycythemia rubra vera|acquired primary erythrocytosis|prv|vaquez disease|osler-vaquez disease|pv

Related symptoms:

  • Neoplasm
  • Visual impairment
  • Hypertension
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POLYCYTHEMIA VERA

Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Top 5 symptoms//phenotypes associated to Hearing impairment and Erythema

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Pruritus Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Palmoplantar keratoderma Growth delay Hypergranulosis Hyperhidrosis Abdominal pain Arthralgia Global developmental delay Fatigue Cataract Neoplasm of the skin Epidermal acanthosis Headache Short stature Nail dystrophy Alopecia Erythroderma

Rare Symptoms - Less than 30% cases

Leukocytosis Anhidrosis Subungual hyperkeratosis Thickened skin Corneal opacity Generalized hypotonia Abnormality of the hair Weight loss Pain Eczema Failure to thrive Splenomegaly Skin rash Abnormality of the nail Inflammatory abnormality of the skin Flexion contracture Scaling skin Brachydactyly Seizures Cutaneous photosensitivity Arthritis Ataxia Myalgia Fever Urticaria Microcephaly Autoamputation Palmoplantar hyperkeratosis Congenital ichthyosiform erythroderma Amniotic constriction ring Congenital nonbullous ichthyosiform erythroderma Parakeratosis Curly hair Opacification of the corneal stroma Angina pectoris Skin ulcer Abnormality of the fingernails Cutis laxa Osteolysis Thrombocytosis Melanoma Mutism Squamous cell carcinoma Nail dysplasia Deep venous thrombosis Acute leukemia Increased hematocrit Ectodermal dysplasia Cerebral ischemia Myelofibrosis Increased red blood cell mass Increased megakaryocyte count Elevated leukocyte alkaline phosphatase Increased hemoglobin Portal vein thrombosis Erythroid hyperplasia Intermittent claudication Abnormality of the dentition Delayed skeletal maturation Severe short stature Myeloproliferative disorder Arterial thrombosis Osteoporosis Carcinoma Joint laxity Sparse hair Papule Hypotrichosis Carious teeth Hypodontia Abnormal thrombosis Budd-Chiari syndrome Neoplasm of the lung Agenesis of premolar Ankylosis Lymphopenia Myoclonus Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Respiratory tract infection Hemolytic anemia Neutropenia Asthma Sensory impairment Lymphoma Bronchiectasis Vasculitis Hyporeflexia Narrow palpebral fissure Leukopenia Recurrent skin infections Glomerulonephritis Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Recurrent respiratory infections Recurrent infections Oral leukoplakia Foot pain Pili torti Generalized osteoporosis Trichorrhexis nodosa Abnormality of the tongue Alopecia universalis Abnormal cornea morphology Plantar hyperkeratosis Abnormal oral mucosa morphology Abnormality of the gingiva Palmoplantar hyperhidrosis Hidrotic ectodermal dysplasia Ainhum Immunodeficiency Pulmonary embolism Circumungual hyperkeratosis Skin fissure Anal fissure Scoliosis Abnormal facial shape Cognitive impairment Anemia High palate Dysarthria Abnormality of the skeletal system Gingival bleeding External genital hypoplasia Thromboembolism Lymphadenopathy Cirrhosis Cholestasis Hepatic fibrosis Abnormal intestine morphology Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Decreased serum ceruloplasmin Vomiting Chest pain Upslanted palpebral fissure Bilateral sensorineural hearing impairment Episodic fever Recurrent aphthous stomatitis Elevated C-reactive protein level Lymphocytosis Lower limb pain Neuritis Limb pain Malar rash Optic neuritis High forehead Diarrhea Diabetes mellitus Intrauterine growth retardation Thick nail Facial erythema Orthokeratosis Honeycomb palmoplantar keratoderma Nausea and vomiting Dehydration Conjunctivitis Polydipsia Dysesthesia Spasticity Tremor Peripheral neuropathy Microphthalmia Pes cavus Mental deterioration Small for gestational age Congenital cataract Intention tremor Broad-based gait Infantile spasms Bilateral microphthalmos Defective DNA repair after ultraviolet radiation damage Abnormality of cardiovascular system morphology Glaucoma Polycythemia Stroke Lack of skin elasticity Eclabion Thin nail Neoplasm Visual impairment Hypertension Hepatomegaly Respiratory insufficiency Thrombocytopenia Leukemia Short finger Vertigo Bruising susceptibility Gastrointestinal hemorrhage Epistaxis Myocardial infarction Venous thrombosis Tinnitus Portal hypertension Myelodysplasia Cerebral hemorrhage Corneal erosion Absent eyebrow Protruding ear Diffuse palmoplantar keratoderma Dry skin Tapered finger Abnormal blistering of the skin Hypertrichosis Generalized hirsutism Hypermelanotic macule Macule Irregular hyperpigmentation Abnormality of the testis Generalized hyperkeratosis Diffuse palmoplantar hyperkeratosis Keratitis Patchy palmoplantar keratoderma Abnormality of the pinna Paralysis Scarring Everted lower lip vermilion Small nail Open mouth Hypohidrosis Short toe Ectropion Cortical myoclonus


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