Edema, and Melanoma

Diseases related with Edema and Melanoma

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

Top matches:

Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). Genetic Heterogeneity of Fuchs Endothelial Corneal DystrophyMore common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (OMIM ) on chromosome 20p13 (FECD4 ), in the ZEB1 gene (OMIM ) on chromosome 10p11.2 (FECD6 ), and in the AGBL1 gene (OMIM ) on chromosome 15q25 (FECD8 ).Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2 ), 18q21.2-q21.32 (FECD3 ), 5q33.1-q35.2 (FECD5 ), and 9p (FECD7 ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 Is also known as corneal dystrophy, fuchs endothelial, early-onset

Related symptoms:

  • Cataract
  • Edema
  • Visual loss
  • Corneal dystrophy
  • Melanoma


SOURCES: OMIM MESH MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Other less relevant matches:

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

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

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Is also known as skin/hair/eye pigmentation 3, light/dark skin|skin/hair/eye pigmentation 3, freckling|eye color 1|skin/hair/eye pigmentation 3, blue/green eye color|gey|eycl1|eye color, green/blue

Related symptoms:

  • Cutaneous melanoma


SOURCES: OMIM MENDELIAN

More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Melanoma
  • Cutaneous melanoma


SOURCES: OMIM MESH MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Melanoma

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Cataract Rare - less than 30% cases
Abnormality of skin pigmentation Rare - less than 30% cases
Pain Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Cough Abnormal lung morphology Myocardial infarction Gastrointestinal hemorrhage Chest pain Ascites Hematuria Lymphadenopathy Abdominal pain Dyspnea Respiratory failure Nephroblastoma Recurrent respiratory infections Hydrocephalus Respiratory distress Fatigue Optic atrophy Fever Cognitive impairment Lymphedema Macule Emphysema Abnormality of the lymphatic system Chylopericardium Pulmonary lymphangiomyomatosis Cystic lung disease Ungual fibroma Retinal hamartoma Renal angiomyolipoma Bronchiolitis obliterans Shagreen patch Abnormal urinary color Chylothorax Restrictive ventilatory defect Bronchiolitis Pneumothorax Abnormality of female internal genitalia Atelectasis Renal neoplasm Multiple renal cysts Pulmonary infiltrates Hemoptysis Acrokeratosis Seizures Poikiloderma Lamellar cataract Feeding difficulties Hyperhidrosis Osteoporosis Prominent forehead Alopecia Abnormality of the dentition Diarrhea Vomiting Frontal bossing Visual impairment Growth delay Hyperkeratosis Short stature Intellectual disability Choroidal melanoma Descemet Membrane Folds Corneal guttata Corneal degeneration Corneal stromal edema Corneal dystrophy Visual loss Hypogonadism Osteopenia Acantholysis Sparse scalp hair Concave nasal ridge Osteosarcoma Alopecia of scalp Severe vision loss Striae distensae Basal cell carcinoma Squamous cell carcinoma Erythroderma Telangiectasia Cutaneous photosensitivity Carcinoma Eczema Overgrowth Abnormal blistering of the skin Hypopigmentation of the skin Leukemia Skin rash Sparse hair Erythema Postnatal growth retardation Renal cell carcinoma


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