Melanoma, and Generalized seizures

Diseases related with Melanoma and Generalized seizures

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


Top matches:

Low match MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS

Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, {155600}), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (OMIM ), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012).Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).

MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS Is also known as giant pigmented hairy nevus;gphn, giant congenital pigmented nevus, pigmented moles;congenital pigmented nevus; gmn; giant congenital melanocytic nevus; giant pigmented hairy nevus; lcmn

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM NCIT SCTID ORPHANET

More info about MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS

Low match MELANOSIS, NEUROCUTANEOUS; NCMS

Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS ). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).

MELANOSIS, NEUROCUTANEOUS; NCMS Is also known as neuromelanosis;ncm; neurocutaneous melanosis

Related symptoms:

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


SOURCES: GARD MESH UMLS ORPHANET OMIM MONDO

More info about MELANOSIS, NEUROCUTANEOUS; NCMS

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Other less relevant matches:

Low match TAY-SACHS DISEASE; TSD

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as gm2-gangliosidosis, type i, b variant gm2-gangliosidosis, hexosaminidase a deficiency, hexa deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO OMIM ICD10 ORPHANET

More info about TAY-SACHS DISEASE; TSD

Low match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

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Low match LYMPHANGIOLEIOMYOMATOSIS; LAM

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; LAM Is also known as lymphangiomyomatosis;lam

Related symptoms:

  • Seizures
  • Pica
  • Cognitive impairment
  • Neoplasm
  • Pain


SOURCES: SCTID COHD EFO ICD10 NCIT ORPHANET MESH GARD OMIM DOID MONDO

More info about LYMPHANGIOLEIOMYOMATOSIS; LAM

Low match XERODERMA PIGMENTOSUM

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xp

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET ICD10 UMLS

More info about XERODERMA PIGMENTOSUM

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

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:

  • Autosomal dominant inheritance
  • Cutaneous melanoma


SOURCES: NCIT EFO UMLS MONDO OMIM MESH DOID

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

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8

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.

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 Is also known as melanoma and renal cell carcinoma, susceptibility to;

Related symptoms:

  • Autosomal dominant inheritance
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM UMLS ORPHANET

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8

Low match COWDEN SYNDROME 1; CWS1

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS ) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008).Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015).Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden SyndromeAlso see Cowden syndrome-2 (CWS2 ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; CWS3 (OMIM ), caused by mutation in the SDHD gene (OMIM ) on chromosome 11q23; CWS4 (OMIM ), caused by hypermethylation of the promoter of the KLLN gene (OMIM ), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (OMIM ), caused by mutation in the PIK3CA gene (OMIM ) on chromosome 3q26; CWS6 (OMIM ), caused by mutation in the AKT1 gene (OMIM ) on chromosome 14q32; and CWS7 (OMIM ), caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11.

COWDEN SYNDROME 1; CWS1 Is also known as cs;cd, multiple hamartoma syndrome;mham;cowden disease; multiple hamartoma syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: NCIT OMIM ORPHANET MONDO

More info about COWDEN SYNDROME 1; CWS1

Top 5 symptoms//phenotypes associated to Melanoma and Generalized seizures

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Pica Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macule Ataxia Intellectual disability Melanocytic nevus Papilloma Hypopigmented skin patches Spasticity Neoplasm of the skin Hearing impairment Cutaneous melanoma Thickened skin Pain Hydrocephalus Papule Failure to thrive Cognitive impairment Optic atrophy

Rare Symptoms - Less than 30% cases


Cataract Palmoplantar keratoderma Astrocytoma Generalized hypotonia Meningioma Delayed skeletal maturation Behavioral abnormality Opacification of the corneal stroma EEG abnormality Carcinoma Tremor Increased intracranial pressure Alopecia Acrania Erythema Hyperkeratosis Ranula Short stature Abnormal cerebellum morphology Abnormality of the dentition Subcutaneous nodule Adult onset Nevus Fatigue Fever Pruritus Renal cell carcinoma Abnormality of skin pigmentation Peripheral neuropathy Sensorineural hearing impairment Generalized hirsutism Hypermelanotic macule Reduced tendon reflexes Freckling Brachydactyly High palate Blepharitis Intellectual disability, progressive Telangiectasia Micrognathia Aminoaciduria Poikiloderma Scoliosis Telangiectasia of the skin Craniofacial hyperostosis Dermal atrophy Entropion Thin skin Ectropion Keratitis Neoplasm of the eye Ankyloblepharon Pterygium Conjunctival telangiectasia Flat nasal alae Chylopericardium Cutaneous photosensitivity Multiple renal cysts Pneumothorax Abnormality of female internal genitalia Brain neoplasm Atelectasis Renal neoplasm Hemoptysis Pulmonary infiltrates Restrictive ventilatory defect Abnormality of the lymphatic system Emphysema Nephroblastoma Chest pain Lymphedema Gastrointestinal hemorrhage Ascites Hematuria Chylothorax Bronchiolitis Abnormality of extrapyramidal motor function Cryptorchidism Decreased testicular size Dry skin Developmental regression Arthralgia Photophobia Hypogonadism Cerebral cortical atrophy Strabismus Abnormal urinary color Microcephaly Macrocephaly Pulmonary lymphangiomyomatosis Ungual fibroma Retinal hamartoma Bronchiolitis obliterans Renal angiomyolipoma Shagreen patch Myopia Lymphoma Intellectual disability, mild Thyroid adenoma Adenoma sebaceum Colonic diverticula Hamartomatous polyposis Subcutaneous lipoma Enlarged polycystic ovaries Neoplasm of the breast Bone cyst Cellular immunodeficiency Intestinal polyp Intestinal polyposis Skin tags Cavernous hemangioma Abnormality of the uterus Furrowed tongue Thyroiditis Hydrocele testis Prolactin excess Neoplasm of the central nervous system Abnormality of the penis Multiple cafe-au-lait spots Mucosal telangiectasiae Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Multiple trichilemmomata Dysplastic gangliocytoma of the cerebellum Trichilemmoma Fibroadenoma of the breast Follicular thyroid carcinoma Acrokeratosis Generalized hyperkeratosis Progressive macrocephaly Colorectal polyposis Varicocele Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Ovarian carcinoma Angioid streaks of the fundus Endometrial carcinoma Hodgkin lymphoma Hyperthyroidism Kyphosis Autism Lymphadenopathy Decreased antibody level in blood Macroglossia Hypoplasia of the maxilla Leukemia Abnormality of the kidney Intellectual disability, moderate Hypothyroidism Cortical visual impairment Oxycephaly Narrow mouth Recurrent infections Immunodeficiency Dilatation Hernia Pectus excavatum Diarrhea Intention tremor Chronic diarrhea Ovarian cyst Hamartoma Megalencephaly Acute myeloid leukemia Ovarian neoplasm Cystic hygroma Abnormality of the vasculature Abnormality of the thyroid gland Multiple lipomas Cellulitis Lipoma Gynecomastia Fibroma Breast carcinoma Dysdiadochokinesis Goiter Palmoplantar hyperkeratosis Hemangioma Overgrowth Lymphopenia Cough Hypergranulosis Dyspnea Dysarthria Blindness Cerebellar atrophy Dysphagia Gait disturbance Infantile onset Skeletal muscle atrophy Muscle weakness Pes cavus Autosomal recessive inheritance Numerous congenital melanocytic nevi Choroid plexus papilloma Spinal cord compression Syringomyelia Arachnoid cyst Generalized hyperpigmentation Dystonia Myoclonus Abnormality of neuronal migration Generalized muscle weakness Choreoathetosis Athetosis Psychosis Memory impairment Urinary incontinence Muscle cramps Paralysis Dementia Falls Sensory neuropathy Ophthalmoplegia Lower limb muscle weakness Limb muscle weakness Rigidity Proximal muscle weakness Meningocele Intracranial hemorrhage Foot dorsiflexor weakness Round face Calvarial skull defect Deep philtrum Sarcoma Open mouth Broad nasal tip Full cheeks Everted lower lip vermilion Thick hair Broad forehead Prominent forehead Congenital onset Long philtrum Short nose Milia Hypertelorism Periorbital fullness Rhabdomyosarcoma Aplasia/Hypoplasia of the cerebellum Abnormality of retinal pigmentation Encephalitis Arnold-Chiari malformation Chorioretinal coloboma Venous thrombosis Cranial nerve paralysis Renal hypoplasia/aplasia Hemiparesis Dandy-Walker malformation Narrow nasal ridge Death in infancy Mental deterioration Sporadic Ventriculomegaly Congenital giant melanocytic nevus Epidermal nevus Prominence of the premaxilla Clumsiness Fasciculations Abdominal pain Neoplasm of the lung Generalized osteoporosis Oral leukoplakia Ankylosis Pili torti Parakeratosis Plantar hyperkeratosis Anhidrosis Hidrotic ectodermal dysplasia Curly hair Squamous cell carcinoma Mutism Cutis laxa Abnormality of the fingernails Inflammatory abnormality of the skin Osteolysis Amniotic constriction ring Abnormality of the tongue Fine hair Foot pain Respiratory failure Recurrent respiratory infections Respiratory distress Skin fissure Anal fissure Circumungual hyperkeratosis Agenesis of premolar Autoamputation Alopecia universalis Ainhum Abnormality of the gingiva Palmoplantar hyperhidrosis Subungual hyperkeratosis Abnormal cornea morphology Abnormal oral mucosa morphology Trichorrhexis nodosa Skin ulcer Hypotrichosis EMG abnormality Action tremor Cherry red spot of the macula Psychotic episodes Decerebrate rigidity Exaggerated startle response Psychomotor deterioration Torsion dystonia Proximal amyotrophy Therapeutic abortion Amyotrophic lateral sclerosis Spinal muscular atrophy Incoordination Apathy Poor head control Aspiration Hypercholesterolemia Abnormal anterior horn cell morphology Internuclear ophthalmoplegia Epidermal acanthosis Sparse hair Ectodermal dysplasia Nail dysplasia Hypodontia Nail dystrophy Ichthyosis Carious teeth Corneal opacity Joint laxity GM2-ganglioside accumulation Hyperhidrosis Severe short stature Osteoporosis Flexion contracture Motor delay Growth delay Zebra bodies Lobular carcinoma in situ


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