Edema, and Eczema

Diseases related with Edema and Eczema

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

Top matches:

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

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

Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Other less relevant matches:

Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.

CLASSIC MYCOSIS FUNGOIDES Is also known as mycosis fungoides, alibert-bazin type

Related symptoms:

  • Hepatomegaly
  • Edema
  • Splenomegaly
  • Alopecia
  • Hyperkeratosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLASSIC MYCOSIS FUNGOIDES

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

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

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Top 5 symptoms//phenotypes associated to Edema and Eczema

Symptoms // Phenotype % cases
Erythema Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases
Alopecia Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Pruritus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Inflammatory abnormality of the skin Erythroderma Pain Acne Telangiectasia Arthritis Hyperhidrosis Growth delay Joint swelling Cutaneous photosensitivity Osteoporosis

Rare Symptoms - Less than 30% cases

Osteopenia Growth hormone excess Dry skin Skin ulcer Sparse and thin eyebrow Neoplasm of the skin Psoriasiform dermatitis Neoplasm Irregular hyperpigmentation Poikiloderma Abnormality of bone marrow cell morphology Ptosis Sparse eyelashes Failure to thrive Cataract Flexion contracture Visual impairment Hypertension Fever Splenomegaly Thickened skin Limitation of joint mobility Arthralgia Coarse facial features Hypotrichosis Seborrheic dermatitis Hepatomegaly Short stature Microcytic anemia Global developmental delay Dilatation Scarring Cholelithiasis Malabsorption Sparse hair Intellectual disability Sparse scalp hair Abnormal blistering of the skin Decreased liver function Papule Falls Eczematoid dermatitis Anemia Osteosarcoma Emphysema Congenital ichthyosiform erythroderma Malnutrition Ectopic kidney Abnormality of the musculature Scaling skin Atopic dermatitis Severe postnatal growth retardation Alopecia of scalp Hypothermia Villous atrophy Verrucae Concave nasal ridge Lamellar cataract Intracranial hemorrhage Aminoaciduria Decreased antibody level in blood Fine hair Congenital nonbullous ichthyosiform erythroderma Asthma Sepsis Ichthyosis Abnormality of the hair Hydronephrosis Weight loss Recurrent respiratory infections Acantholysis Acanthosis nigricans Abnormal intestine morphology Recurrent infections Seizures Acrokeratosis Recurrent skin infections Dehydration Urticaria Brittle hair Allergy Broad nasal tip Trichorrhexis nodosa Bone pain Membranoproliferative glomerulonephritis Oval face Pulmonary lymphangiectasia Choroid plexus calcification Epidermal hyperkeratosis Facial telangiectasia in butterfly midface distribution Telangiectasia of extensor surfaces Scoliosis Small hand Palmoplantar keratoderma Gastrointestinal hemorrhage Abnormality of epiphysis morphology Gynecomastia Nonimmune hydrops fetalis Abnormality of the fingernails Osteolysis Cerebral palsy Genu varum Osteomyelitis Aseptic necrosis Neoplasm of the lung Abnormal hair pattern Abnormal cortical bone morphology Peptic ulcer Abnormal hair quantity Cutis gyrata of scalp Clubbing of toes Arteriosclerosis Hydrocele testis Allergic rhinitis Prominent nasal bridge Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Hypernatremic dehydration Brittle scalp hair IgE-mediated food allergy Abnormal facial shape Epicanthus Wide nasal bridge Renal insufficiency Mandibular prognathia Proteinuria Stage 5 chronic kidney disease Narrow nose Thick vermilion border Striae distensae Lymphedema Hydrops fetalis Chronic kidney disease Pyloric stenosis Glomerulonephritis Absent eyebrow Reduced subcutaneous adipose tissue Long nose Freckling Palpebral edema Absent eyelashes Severe vision loss Osteolytic defects of the phalanges of the hand Basal cell carcinoma Autoimmunity Abnormal eyelid morphology T-cell lymphoma Skin plaque Abnormal lymphocyte morphology Cutaneous T-cell lymphoma Hearing impairment Peripheral neuropathy Blindness Glaucoma Camptodactyly Camptodactyly of finger Abnormality of the nail Subcutaneous nodule Vasculitis Hypercalcemia Rheumatoid arthritis Increased antibody level in blood Abnormality of the ear Abnormal joint morphology Optic neuropathy Uveitis Abnormal cranial nerve morphology Hypopigmented skin patches Lymphoma Juvenile rheumatoid arthritis Atrophodermia vermiculata Cirrhosis Abnormality of the heme biosynthetic pathway Abnormality of the cardiovascular system Epidermal acanthosis Milia Neurofibromas Follicular hyperkeratosis Leukonychia Folliculitis Perifollicular fibrosis Thrombocytopenia Lymphadenopathy Jaundice Abnormality of the liver Paresthesia Hepatic failure Hemolytic anemia Polyneuropathy Tetraparesis Hypertriglyceridemia Cholestasis Acute hepatic failure Cholecystitis Macular edema Synovitis Squamous cell carcinoma Frontal bossing Arthropathy Heart block Flushing Clubbing of fingers Long clavicles Wide cranial sutures Hip pain Periostosis Subperiosteal bone formation Feeding difficulties Vomiting Disproportionate tall stature Diarrhea Abnormality of the dentition Prominent forehead Hypogonadism Carcinoma Postnatal growth retardation Leukemia Abnormality of skin pigmentation Hypopigmentation of the skin Overgrowth Melanoma Thickened calvaria Clubbing Cystoid macular edema Tendonitis Abducens palsy Flexion contracture of toe Granulomatosis Band keratopathy Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Intermittent generalized erythematous papular rash Patent foramen ovale Nongranulomatous uveitis Cleft palate High palate Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Delayed skeletal maturation Large fontanelles Wormian bones Palmoplantar hyperkeratosis Redundant skin Impaired temperature sensation


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