Edema, and Epidermal acanthosis

Diseases related with Edema and Epidermal acanthosis

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

Top matches:

Related symptoms:

  • Edema
  • Nevus
  • Epidermal acanthosis
  • Hyperparakeratosis


SOURCES: OMIM MENDELIAN

More info about WHITE SPONGE NEVUS 2; WSN2

PEELING SKIN SYNDROME 4; PSS4 Is also known as ichthyosis, exfoliative, autosomal recessive|ichthyosis bullosa of siemens-like|arei

Related symptoms:

  • Edema
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 4; PSS4

Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin SyndromePeeling skin syndrome-2 (PSS2 ), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (OMIM ) on chromosome 15q15. Peeling skin syndrome-3 (PSS3 ) is caused by mutation in the CHST8 gene (OMIM ) on chromosome 19q13. Peeling skin syndrome-4 (PSS4 ) is caused by mutation in the CSTA gene (OMIM ) on chromosome 3q21. Peeling skin syndrome-5 (PSS5 ) is caused by mutation in the SERPINB8 gene (OMIM ) on chromosome 18q22. PSS6 (OMIM ) is caused by mutation in the FLG2 gene (OMIM ) on chromosome 1q21.

PEELING SKIN SYNDROME 1; PSS1 Is also known as pss|keratolysis exfoliativa congenita|deciduous skin|skin peeling, familial continuous generalized

Related symptoms:

  • Short stature
  • Edema
  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 1; PSS1

Other less relevant matches:

Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).

ATROPHODERMA VERMICULATA Is also known as atrophodermia reticulata symmetrica faciei|folliculitis ulerythematosa reticulate|honeycomb atrophy|folliculitis ulerythematosa reticulata|atrophodermia vermiculata

Related symptoms:

  • Edema
  • Dilatation
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATROPHODERMA VERMICULATA

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Edema
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

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

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 Is also known as ichthyosis congenita iii|ichthyosis, lamellar, 3, formerly|li3, formerly|nnci|ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive

Related symptoms:

  • Flexion contracture
  • Renal insufficiency
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5

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

Top 5 symptoms//phenotypes associated to Edema and Epidermal acanthosis

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Erythema Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases
Scaling skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Epidermal acanthosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Erythroderma Alopecia Parakeratosis Congenital ichthyosiform erythroderma Follicular hyperkeratosis Dehydration Skin rash Sepsis Papule Hyperhidrosis Palmoplantar hyperkeratosis

Rare Symptoms - Less than 30% cases

Postural instability Splenomegaly Respiratory insufficiency Failure to thrive Respiratory distress Diarrhea Fragile skin Scarring Pustule Hepatomegaly Hypernatremic dehydration Weight loss Ectodermal dysplasia Growth delay Fever Poor appetite Hypergranulosis Psoriasiform dermatitis Nail dystrophy Pruritus Orthokeratosis Diffuse palmoplantar hyperkeratosis Abnormal blistering of the skin Inflammatory abnormality of the skin Ectropion Congenital bullous ichthyosiform erythroderma Abnormality of the cardiovascular system Abnormality of hair texture Autoimmune hemolytic anemia Atrophic scars Keratitis Chronic diarrhea Hemolytic anemia Dry skin Autoimmunity Arthritis Photophobia Hepatosplenomegaly Hyperparakeratosis Increased IgE level Anemia Keratoconjunctivitis sicca Eclabion Subungual hyperkeratosis Congenital nonbullous ichthyosiform erythroderma Acanthocytosis Acute kidney injury Anhidrosis Absent eyebrow Renal insufficiency Flexion contracture Conjunctival hamartoma Lichenification Hypernatremia Generalized hyperkeratosis Thyroiditis Uveitis Heat intolerance Leukocytosis Chronic recurrent multifocal osteomyelitis Periostitis Cerebral vasculitis Low-grade fever Fetal distress Fused cervical vertebrae Stomatitis Thrombocytosis Joint swelling Vertebral fusion Interstitial pulmonary abnormality Osteomyelitis Hyperostosis Antinuclear antibody positivity Osteolysis Vasculitis Meningitis Arthralgia Osteopenia Feeding difficulties Pain Punctate keratitis Comedo Polyarticular arthritis Increased IgA level Corneal neovascularization Villous atrophy Disseminated intravascular coagulation Angioedema Eczema Onycholysis Hernia Dysphagia Asthma Neoplasm Recurrent bronchiolitis Bronchiolitis Enlarged kidney Dilatation Recurrent pneumonia Long eyelashes Coarctation of aorta Fine hair Brittle hair Gastroesophageal reflux Vomiting Urticaria Hypertension Dystrophic fingernails Atrophodermia vermiculata Perifollicular fibrosis Folliculitis Leukonychia Falls Neurofibromas Milia Acne Telangiectasia Abnormality of metabolism/homeostasis Carcinoma Skin vesicle Plantar hyperkeratosis Recurrent skin infections Skin ulcer Cutaneous photosensitivity Concave nail Confusion Orthokeratotic hyperkeratosis Esophageal leukoplakia Abnormal large intestine morphology Abnormality of esophagus physiology Esophageal carcinoma Esophageal neoplasm Abnormality of the mediastinum Clubbing of toes Esophageal stricture Nausea and vomiting Stomach cancer Oral leukoplakia Esophagitis Hiatus hernia Abnormality of the mouth Nevus Squamous cell carcinoma Oral-pharyngeal dysphagia Poor suck Thickened skin Gastrointestinal hemorrhage Short stature Ascites Onychomadesis


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