Melanoma, and Subcutaneous nodule

Diseases related with Melanoma and Subcutaneous nodule

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


Top matches:

Medium match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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Other less relevant matches:

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


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

Low match SMALL CELL LUNG CANCER


Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

SMALL CELL LUNG CANCER Is also known as sclc|sccl|sclc1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Subcutaneous nodule
  • Neoplasm of the lung
  • Retinoblastoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about SMALL CELL LUNG CANCER

Low match FAMILIAL CYLINDROMATOSIS


The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands.Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.

FAMILIAL CYLINDROMATOSIS Is also known as cylindromas, dermal eccrine|ancell-spiegler cylindromas|'turban tumor' syndrome|turban tumor syndrome

Related symptoms:

  • Neoplasm
  • Subcutaneous nodule
  • Neoplasm of the skin
  • Milia
  • Neurofibromas


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL CYLINDROMATOSIS

Low match FAMILIAL KERATOACANTHOMA


Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.

FAMILIAL KERATOACANTHOMA Is also known as ferguson-smith-type epithelioma|hereditary keratoacanthoma|multiple keratoacanthoma|ess1, formerly

Related symptoms:

  • Neoplasm
  • Anemia
  • Hyperkeratosis
  • Carcinoma
  • Papule


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL KERATOACANTHOMA

Low match MYXOID/ROUND CELL LIPOSARCOMA


Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.

MYXOID/ROUND CELL LIPOSARCOMA Is also known as mrcls

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Vomiting
  • Abdominal pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYXOID/ROUND CELL LIPOSARCOMA

Low match DERMATOFIBROSARCOMA PROTUBERANS


Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).

DERMATOFIBROSARCOMA PROTUBERANS Is also known as dfsp|giant cell fibroblastoma

Related symptoms:

  • Neoplasm
  • Aggressive behavior
  • Erythema
  • Leukemia
  • Subcutaneous nodule


SOURCES: ORPHANET OMIM MENDELIAN

More info about DERMATOFIBROSARCOMA PROTUBERANS

Top 5 symptoms//phenotypes associated to Melanoma and Subcutaneous nodule

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperkeratosis Melanocytic nevus Sarcoma Intellectual disability Short stature Leukemia Papule Hypertelorism

Rare Symptoms - Less than 30% cases


Cataract Basal cell carcinoma Generalized hypotonia Hearing impairment Scoliosis Growth delay Low-set ears Cognitive impairment Intellectual disability, mild Dilatation Pectus excavatum Telangiectasia Multiple lipomas Frontal bossing Abnormality of the kidney Overgrowth Erythema Diarrhea Multiple cafe-au-lait spots Acrokeratosis Adenoma sebaceum Papilloma Vomiting Cafe-au-lait spot Global developmental delay Failure to thrive Hypopigmented skin patches Skin ulcer Prominent forehead Nevus Hydrocephalus Abnormality of skin pigmentation Intestinal polyposis Ovarian cyst Aggressive behavior Bone cyst Astrocytoma Cellular immunodeficiency Long penis Abnormality of the uterus Cavernous hemangioma Furrowed tongue Enlarged polycystic ovaries Hamartomatous polyposis Myxoid liposarcoma Liposarcoma Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Thyroid adenoma Arteriovenous malformation Meningioma Thickened skin Ovarian neoplasm Dysdiadochokinesis Intracranial hemorrhage Hand polydactyly Cutis marmorata Macule Abnormality of the thyroid gland Cystic hygroma Cellulitis Fibrosarcoma Acute myeloid leukemia Hamartoma Hyperthyroidism Thyroiditis Hydrocele testis Gastrointestinal stroma tumor Hodgkin lymphoma Renal cell carcinoma Hashimoto thyroiditis Scaphocephaly Chronic myelogenous leukemia Lipoma Abnormality of the vasculature Papilledema Prolactin excess Skin tags Megalencephaly Follicular thyroid carcinoma Varicocele Colorectal polyposis Endometrial carcinoma Meningitis Weight loss Abnormal blistering of the skin Eczema Cutaneous photosensitivity Sparse scalp hair Abdominal pain Erythroderma Squamous cell carcinoma Fatigue Striae distensae Keratoacanthoma Severe vision loss Alopecia of scalp Osteosarcoma Skin rash Poikiloderma Concave nasal ridge Acantholysis Abnormality of the skin Anemia Lamellar cataract Neoplasm of the lung Retinoblastoma Small cell lung carcinoma Cylindroma Trichoepithelioma Telangiectasia of the skin Neurofibromas Hypopigmentation of the skin Sparse hair Milia Ductal carcinoma in situ Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Soft tissue sarcoma Transitional cell carcinoma of the bladder Gastrointestinal dysmotility Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Merkel cell skin cancer Postnatal growth retardation Multiple trichilemmomata Lobular carcinoma in situ Feeding difficulties Palmoplantar hyperkeratosis Visual impairment Edema Nausea Abnormality of the dentition Alopecia Osteoporosis Hyperhidrosis Hypogonadism Osteopenia Incoordination Palmoplantar keratoderma Goiter Triangular face Arrhythmia Delayed skeletal maturation Posteriorly rotated ears Brachycephaly Mandibular prognathia Neonatal hypotonia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pectus carinatum Pulmonic stenosis Delayed puberty Joint hyperflexibility Thick vermilion border Webbed neck Abnormality of cardiovascular system morphology Specific learning disability Tetralogy of Fallot Mitral valve prolapse Myocardial infarction Abnormality of the genital system Abnormality of the face Left ventricular hypertrophy Scapular winging Spina bifida occulta Hyperextensible skin Myelodysplasia Abnormality of the voice Bilateral cryptorchidism Bundle branch block Hypospadias Short neck Abnormality of the ear Calvarial skull defect Short nose Long philtrum Broad forehead Pruritus Everted lower lip vermilion Broad nasal tip Full cheeks Round face Open mouth Generalized hirsutism Deep philtrum Hypermelanotic macule Narrow nasal bridge Periorbital fullness Intrauterine growth retardation Rhabdomyosarcoma Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Sensorineural hearing impairment Muscular hypotonia Cryptorchidism Ptosis Depressed nasal bridge Wide nasal bridge External genital hypoplasia Decreased fertility Breast carcinoma Polymicrogyria Atrial septal defect Myopathy Kyphosis Immunodeficiency Headache Recurrent infections Autism Narrow mouth Hypothyroidism Proximal muscle weakness Intellectual disability, moderate Nausea and vomiting Joint hypermobility Hypoplasia of the maxilla Downslanted palpebral fissures Abnormal cerebellum morphology Macroglossia Lymphoma Decreased antibody level in blood Intention tremor Broad thumb Chronic diarrhea Exotropia Gynecomastia Lymphopenia Cranial nerve paralysis Drooling Hemangioma Increased intracranial pressure Tremor Macrocephaly Atrioventricular canal defect Abnormal localization of kidney Freckling Neuroblastoma Curly hair Severe sensorineural hearing impairment Sprengel anomaly Premature skin wrinkling Right ventricular hypertrophy Wolff-Parkinson-White syndrome Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Shield chest Abnormal aortic valve morphology Abnormality of the pulmonary artery Skeletal muscle atrophy Excessive wrinkled skin Multiple lentigines Abnormal endocardium morphology Abnormal pulmonary valve morphology Hypoplasia of the ovary Numerous nevi Ataxia Micrognathia Muscle weakness High palate Delayed speech and language development Motor delay Brachydactyly Myopia Obstruction of the superior vena cava



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