Fever, and Dry skin

Diseases related with Fever and Dry skin

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

High match SÉZARY SYNDROME

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Other less relevant matches:

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

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

High match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match RIDDLE SYNDROME

A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Dry skin

Symptoms // Phenotype % cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Failure to thrive Edema Alopecia Hepatosplenomegaly Skin rash Pruritus Pneumonia Sepsis Lymphadenopathy Erythroderma Neoplasm Growth delay Autoimmunity Chronic diarrhea Global developmental delay Seizures Abnormal facial shape Splenomegaly Intellectual disability Recurrent respiratory infections Arthritis Hypodontia Sparse scalp hair Sparse eyelashes Scaling skin Anhidrosis

Rare Symptoms - Less than 30% cases

Thrombocytopenia Hypoplasia of the thymus Irregular hyperpigmentation Depressed nasal bridge Short stature Generalized lymphadenopathy Abnormal lymphocyte morphology Hypoplastic nipples Recurrent infections Thickened skin Brittle hair Anemia Protracted diarrhea Papule Recurrent viral infections Heat intolerance Thyroiditis Dehydration Villous atrophy Rhinitis Frontal bossing Lymphoma Anhidrotic ectodermal dysplasia Absent nipple Periorbital wrinkles Conical tooth Anodontia Keratoconjunctivitis sicca Agenesis of permanent teeth Short nose Hepatomegaly Sparse and thin eyebrow Inflammatory abnormality of the skin Aplasia/Hypoplasia of the eyebrow Absent eyebrow Episodic fever Hypohidrosis Everted lower lip vermilion Thick vermilion border Sparse hair Respiratory tract infection Eczema Hypohidrotic ectodermal dysplasia Hashimoto thyroiditis Severe combined immunodeficiency Intellectual disability, severe Recurrent fungal infections Hypoproteinemia Cellular immunodeficiency Respiratory distress Metaphyseal chondrodysplasia B lymphocytopenia Hypertension Feeding difficulties Desquamation of skin soon after birth Severe B lymphocytopenia Immunologic hypersensitivity Combined immunodeficiency Hypernatremia Congenital ichthyosiform erythroderma Atopic dermatitis Severe postnatal growth retardation Hypothermia Verrucae Allergy Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Allergic rhinitis Increased IgE level Angioedema Hypernatremic dehydration Leukocytosis Brittle scalp hair IgE-mediated food allergy Severe short stature Hypothyroidism Nephrotic syndrome Abnormality of the metaphysis Short toe Increased body weight Recurrent bacterial infections Shock Disproportionate short-limb short stature Eosinophilia Abnormality of the dentition Aplasia/Hypoplastia of the eccrine sweat glands Prominent forehead Recurrent sinusitis Otitis media Specific learning disability Abnormal lung morphology Clumsiness Telangiectasia Recurrent pneumonia Emotional lability Pulmonary fibrosis Restrictive ventilatory defect Interstitial pulmonary abnormality Bronchitis IgA deficiency Erythema IgG deficiency Chronic sinusitis Mild global developmental delay Demyelinating peripheral neuropathy IgM deficiency Conjunctival telangiectasia Elevated alpha-fetoprotein Enuresis nocturna Intraventricular hemorrhage Increased sensitivity to ionizing radiation Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Abnormality of the cerebral white matter Respiratory failure Short distal phalanx of finger Absent eyelashes Delayed eruption of teeth Hypoplasia of the maxilla Underdeveloped nasal alae Microdontia Depressed nasal ridge Thin skin Hoarse voice Type I diabetes mellitus Short chin Dysphonia Prominent supraorbital ridges Sparse body hair Soft skin Abdominal pain Taurodontia Anterior hypopituitarism Concave nail Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital hyperpigmentation Ectopic kidney Hypoplastic-absent sebaceous glands Microcephaly Ataxia Gait disturbance Headache Abnormality of the musculature Growth hormone deficiency Malnutrition Comedo Epidermal acanthosis Keratitis Atrophic scars Autoimmune hemolytic anemia Uveitis Antinuclear antibody positivity Follicular hyperkeratosis Corneal neovascularization Increased IgA level Polyarticular arthritis Punctate keratitis Photophobia Generalized hypotonia Muscle weakness Muscular hypotonia Spasticity Talipes equinovarus Myopathy Pectus excavatum Encephalopathy Difficulty walking Neutropenia Hemolytic anemia Hyperkeratosis Respiratory insufficiency due to muscle weakness Skeletal muscle atrophy Osteomyelitis Cellulitis Periorbital edema Conical incisor Recurrent streptococcus pneumoniae infections Xerostomia Sparse lateral eyebrow Abnormality of the forehead Abnormal number of teeth Peripheral neuropathy Tremor Respiratory insufficiency Nail dystrophy Palmoplantar keratoderma Abnormality of the face Neoplasm of the skin Ectropion Gangrene Abnormality of the pleura Lichenification T-cell lymphoma Abnormal immunoglobulin level Cutaneous T-cell lymphoma Hypocalcemia Encephalitis Emphysema Ichthyosis Enuresis Histiocytosis Central diabetes insipidus Pollakisuria Nocturia Hypertonic dehydration Abnormality of the anterior pituitary Germinoma Hydronephrosis Malabsorption Asthma Diabetes insipidus Decreased antibody level in blood Fine hair Abnormality of the hair Aminoaciduria Acanthosis nigricans Abnormal intestine morphology Recurrent skin infections Urticaria Intracranial hemorrhage Psoriasiform dermatitis Orthostatic hypotension Polyuria Gowers sign Constipation Amelogenesis imperfecta Progressive encephalopathy Stomatitis Recurrent aphthous stomatitis Pyelonephritis Hypertelorism Fatigue Vomiting Long philtrum Abnormality of metabolism/homeostasis Osteoporosis Polydipsia Diabetes mellitus Osteopenia Irritability Lethargy Confusion Vertigo Wide nose Coma Gliosis Syncope Hypotension Poor hand-eye coordination


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