Edema, and Nevus

Diseases related with Edema and Nevus

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

Top matches:

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

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (OMIM ).

HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 Is also known as hydatidiform mole, complete

Related symptoms:

  • Nevus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2

Related symptoms:

  • Edema
  • Nevus
  • Epidermal acanthosis
  • Hyperparakeratosis


SOURCES: OMIM MENDELIAN

More info about WHITE SPONGE NEVUS 2; WSN2

Other less relevant matches:

Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.

CONGENITAL GLAUCOMA Is also known as glaucoma, congenital|buphthalmus|buphthalmos|glc3|primary congenital glaucoma|buphthalmia

Related symptoms:

  • Edema
  • Blindness
  • Visual loss
  • Glaucoma
  • Retinal detachment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL GLAUCOMA

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.

FAMILIAL MULTIPLE NEVI FLAMMEI Is also known as familial multiple port-wine stains

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL MULTIPLE NEVI FLAMMEI

Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME Is also known as hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Related symptoms:

  • Hypertension
  • Respiratory distress
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

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

Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (OMIM ), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).

CAPILLARY MALFORMATIONS, CONGENITAL; CMC Is also known as port-wine stain|nevi flammei, familial multiple|capillary malformations|cmal

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Dilatation


SOURCES: ORPHANET OMIM MENDELIAN

More info about CAPILLARY MALFORMATIONS, CONGENITAL; CMC

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.

PEUTZ-JEGHERS SYNDROME; PJS Is also known as polyps-and-spots syndrome|polyposis, hamartomatous intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

Top 5 symptoms//phenotypes associated to Edema and Nevus

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Nevus flammeus Uncommon - Between 30% and 50% cases
Hypermelanotic macule Uncommon - Between 30% and 50% cases
Lower limb asymmetry Uncommon - Between 30% and 50% cases
Hemangioma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphedema Dilatation Papule Glaucoma

Rare Symptoms - Less than 30% cases

Intracranial hemorrhage Pulmonary embolism Growth abnormality Dermal atrophy Hyperostosis Scleroderma Hemiplegia Venous thrombosis Atypical scarring of skin Skin ulcer Hemiparesis Cerebral calcification Arrhythmia Scoliosis Osteopoikilosis Intellectual disability Bone pain Abnormal cranial nerve morphology Joint stiffness Hyperhidrosis Abnormality of the dentition Venous insufficiency Pain Flexion contracture Abnormality of the upper limb Seizures Skeletal muscle atrophy Arteriovenous malformation Skeletal dysplasia Arthralgia Arthritis Breast carcinoma Gynecomastia Polycystic kidney dysplasia Abnormality of the kidney Psoriasiform dermatitis Accelerated skeletal maturation Abdominal distention Abnormal axial skeleton morphology Carcinoma Abnormal aortic morphology Subcutaneous nodule Abnormality of epiphysis morphology Hoarse voice Flat occiput Multiple lipomas Cutaneous finger syndactyly Generalized hypopigmentation Abnormal cortical bone morphology Generalized osteosclerosis Generalized limb muscle atrophy Abdominal pain Abnormal bone structure Connective tissue nevi Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Clubbing Neoplasm Diarrhea Endolymphatic sac tumor Headache Melanocytic nevus Intestinal polyp Intestinal obstruction Thyroid nodule Testicular neoplasm Bloody diarrhea Thrombophlebitis Hematemesis Intestinal bleeding Clear cell renal cell carcinoma Hamartomatous polyposis Gastrointestinal carcinoma Neoplasm of the breast Nasal polyposis Rectal prolapse Uterine neoplasm Biliary tract abnormality Pancreatic cysts Intestinal polyposis Macule Ovarian cyst Multiple myeloma Clubbing of fingers Neoplasm of the pancreas Abnormality of the mouth Vitiligo Recurrent fractures Intussusception Congenital shortened small intestine Renal cell carcinoma Abnormality of the ureter Iron deficiency anemia Ovarian neoplasm Hamartoma Abnormality of the metaphysis Hydrocele testis Palmoplantar keratoderma Increased bone mineral density Alopecia Respiratory distress Abnormality of the lower limb Irregular hyperpigmentation Ectopic ossification in muscle tissue Subcutaneous calcification Peripheral arteriovenous fistula Upper limb asymmetry Chronic pain Prominent superficial veins Lack of skin elasticity Abnormality of the vasculature Joint swelling Cranial nerve paralysis Abnormality of the foot Sparse hair Abnormality of the skeletal system Failure to thrive Late onset congenital glaucoma Primary congenital glaucoma Buphthalmos Increased intraocular pressure Megalocornea Striae distensae Congenital glaucoma Retinal detachment Visual loss Blindness Hyperparakeratosis Epidermal acanthosis Erythema Hypotrichosis Craniosynostosis Predominantly lower limb lymphedema Myalgia Renal insufficiency Visual impairment Strabismus Hearing impairment Short stature Nevus flammeus nuchae Nevus flammeus of the forehead Capillary malformation Capillary hemangioma Cafe-au-lait spot Overgrowth Plantar telangiectasia Palmar telangiectasia Abnormality of the lymphatic system Ascites Toenail dysplasia Alopecia totalis Nonimmune hydrops fetalis Absent eyelashes Palpebral edema Sparse body hair Cutis marmorata Absent eyebrow Pleural effusion Abnormality of the nail Hydrops fetalis Telangiectasia Thin skin Sparse scalp hair Precocious puberty with Sertoli cell tumor


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