Fever, and Hyperkeratosis

Diseases related with Fever and Hyperkeratosis

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

Top matches:

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The 3 main types include the generalized Koebner form, the more severe generalized Dowling-Meara form (OMIM ), and the localized, mild Weber-Cockayne form (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.Davison (1965) referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (OMIM ).On the basis of an extensive study in Norway and review of the literature, Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (OMIM ), and a form with mottled pigmentation (OMIM ).Fine et al. (1991) provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED Is also known as ebs, generalized|epidermolysis bullosa simplex, koebner type

Related symptoms:

  • Fever
  • Hyperkeratosis
  • Nail dystrophy
  • Nail dysplasia
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.

ICHTHYOSIS VULGARIS Is also known as ichthyosis simplex

Related symptoms:

  • Fever
  • Hyperkeratosis
  • Ichthyosis
  • Asthma
  • Eczema


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS VULGARIS

Related symptoms:

  • Fever
  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 2; PSORS2

Other less relevant matches:

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.

HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME Is also known as shaheen syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY 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

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

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

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

Top 5 symptoms//phenotypes associated to Fever and Hyperkeratosis

Symptoms // Phenotype % cases
Epidermal acanthosis Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Keratitis Papule Scaling skin Seizures Inflammatory abnormality of the skin Intellectual disability Recurrent infections Lichenification Nail dysplasia

Rare Symptoms - Less than 30% cases

Peripheral neuropathy Neoplasm Anhidrosis Hepatomegaly Behavioral abnormality Alopecia Failure to thrive Edema Meningitis Hepatosplenomegaly Pruritus Hyperostosis Dry skin Lymphadenopathy Osteomyelitis Thickened skin Respiratory insufficiency Carious teeth Hepatitis Arthritis Abnormal blistering of the skin Palmoplantar hyperkeratosis Uveitis Fragile skin Ichthyosis Eczema Heat intolerance Ectodermal dysplasia Arthralgia Pain Skin ulcer Psoriasiform dermatitis Pustule Hyperhidrosis Microcephaly Erythema Episodic fever Aseptic necrosis Corneal ulceration Abnormality of dental color Lack of skin elasticity Hypotrichosis of the scalp Recurrent corneal erosions Poor wound healing Self-mutilation Pain insensitivity Corneal scarring Impaired pain sensation Hip dislocation Bowel incontinence Generalized hypotonia Cheilitis Recurrent fungal infections Abnormal endocardium morphology Abnormality of temperature regulation Onychomycosis Abnormal lip morphology Dyspareunia Broad nail Chronic oral candidiasis Global developmental delay Hyporeflexia Emotional lability Hyperactivity Irritability Corneal opacity Acral ulceration Sensory neuropathy Decreased antibody level in blood Febrile seizures Abnormal autonomic nervous system physiology Opacification of the corneal stroma Self-injurious behavior Palmar hyperkeratosis Pallor Neuropathic arthropathy Ridged nail Increased bone mineral density Hemivertebrae Eosinophilia Coarse hair Supernumerary nipple Hypoplastic nipples Abnormality of the vasculature Hypoplasia of the fovea Anodontia Conical tooth Thick nail Lymphedema Generalized osteosclerosis Breast hypoplasia Breast aplasia Supernumerary ribs Scarring alopecia of scalp Hypohidrotic ectodermal dysplasia Retinal hemorrhage Nail pits Hyperpigmented streaks Retinal vascular proliferation Hyperpigmentation of the skin Fine hair Autoamputation of digits Visual loss Decreased number of small peripheral myelinated nerve fibers Postural hypotension with compensatory tachycardia Short stature Strabismus Cataract Spasticity Visual impairment Optic atrophy Abnormality of the dentition Microphthalmia Kyphoscoliosis Nevus Chronic mucocutaneous candidiasis Sparse hair Scarring Malabsorption Abnormality of skin pigmentation Retinal detachment Delayed eruption of teeth Hypopigmentation of the skin Hypodontia Tetraplegia Abnormal vagina morphology Cerebral vasculitis Abnormal toenail morphology Abnormality of the pleura Palmoplantar keratoderma Lymphoma Abnormality of the face Neoplasm of the skin Ectropion Erythroderma Irregular hyperpigmentation Gangrene T-cell lymphoma Weight loss Abnormal lymphocyte morphology Abnormal immunoglobulin level Cutaneous T-cell lymphoma Growth delay Anemia Diarrhea Photophobia Autoimmunity Hemolytic anemia Hypotrichosis Tremor Atrophic scars Rheumatoid arthritis Milia Skin vesicle Mottled pigmentation Asthma Allergic rhinitis Eczematoid dermatitis Orthokeratotic hyperkeratosis Dermal atrophy Parakeratosis Skeletal muscle atrophy Atopic dermatitis Orthokeratosis Diffuse skin atrophy Delayed speech and language development Hypoplasia of dental enamel Postnatal microcephaly Hypohidrosis Mild microcephaly Abnormal facial shape Chronic diarrhea Autoimmune hemolytic anemia Abnormality of the mouth Cough Low-grade fever Periostitis Chronic recurrent multifocal osteomyelitis Onychomadesis Headache Recurrent respiratory infections Abnormality of the eye Feeding difficulties in infancy Hematuria Fused cervical vertebrae Abnormality of the skin Recurrent urinary tract infections Abnormality of the nail Abnormality of dental enamel Abnormality of the fingernails Abnormality of vision Abnormality of the immune system Abnormality of blood and blood-forming tissues Hemoptysis Fetal distress Stomatitis Thyroiditis Punctate keratitis Keratoconjunctivitis sicca Antinuclear antibody positivity Follicular hyperkeratosis Villous atrophy Corneal neovascularization Increased IgA level Polyarticular arthritis Comedo Feeding difficulties Thrombocytosis Respiratory distress Osteopenia Sepsis Vasculitis Osteolysis Leukocytosis Interstitial pulmonary abnormality Vertebral fusion Joint swelling Atrophic, patchy alopecia


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