Melanoma, and Gynecomastia

Diseases related with Melanoma and Gynecomastia

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

Top matches:

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

Low match BREAST CANCER

Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Gynecomastia
  • Breast carcinoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BREAST CANCER

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis|46,xy pgd

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


SOURCES: ORPHANET MENDELIAN

More info about 46,XY PARTIAL GONADAL DYSGENESIS

Other less relevant matches:

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.

PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME Is also known as palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome

Related symptoms:

  • Hearing impairment
  • Strabismus
  • Hypospadias
  • Hyperkeratosis
  • Carcinoma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Gynecomastia

Symptoms // Phenotype % cases
Carcinoma Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Breast carcinoma Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ovarian cyst Palmoplantar hyperkeratosis Hamartomatous polyposis Hearing impairment Goiter Hemangioma Hyperthyroidism Intention tremor Hypoplasia of the maxilla Ovarian neoplasm Thyroiditis Hashimoto thyroiditis Skin tags Meningioma Furrowed tongue Macule Intellectual disability Colonic diverticula Hypothyroidism Angioid streaks of the fundus Thyroid adenoma Varicocele Progressive macrocephaly Transitional cell carcinoma of the bladder Fibroadenoma of the breast Sarcoma Hypospadias Ambiguous genitalia Clitoral hypertrophy Seizures Abnormality of the cardiovascular system Hypertension Subcutaneous lipoma Hydrocele testis Narrow mouth Pectus excavatum Micrognathia High palate Myopia Scoliosis Intellectual disability, mild Kyphosis Muscle weakness

Rare Symptoms - Less than 30% cases

Hamartoma Renal cell carcinoma Proximal muscle weakness Lipoma Fever Papule Azoospermia Osteoporosis Edema Melanocytic nevus Neoplasm of the breast Fibroma Diarrhea Abnormality of the kidney Nevus Cellulitis Palmoplantar keratoderma Adrenal insufficiency Hypermelanotic macule Headache Testicular neoplasm Intestinal polyposis Obesity Decreased testicular size Hirsutism Endometrial carcinoma Short stature Recurrent urinary tract infections Growth abnormality Follicular thyroid carcinoma Telangiectasia Precocious puberty Astrocytoma Cafe-au-lait spot Dilatation Abnormality of cardiovascular system morphology Intestinal polyp Clubbing of fingers Multiple myeloma Fibrosarcoma Osteopenia Nasal polyposis Pancreatic cysts Biliary tract abnormality Knee pain Rectal prolapse Intestinal bleeding Hematemesis Thrombophlebitis Bloody diarrhea Intussusception Laryngeal carcinoma Clear cell renal cell carcinoma Orthokeratotic hyperkeratosis Gastrointestinal carcinoma Neoplasm of the pancreas Spinalarachnoid cyst Abnormality of the mouth Adrenocortical carcinoma Hypoglycemia Infertility Amenorrhea Polycystic ovaries Abnormality of the thorax Decreased fertility Adrenal hyperplasia Renal salt wasting Abnormality of the ovary Congenital adrenal hyperplasia Abnormal spermatogenesis Adrenogenital syndrome Premature pubarche Vitiligo Reduced amygdala volume Hyperhidrosis Abdominal pain Abdominal distention Accelerated skeletal maturation Polycystic kidney dysplasia Uterine neoplasm Abnormality of the pulmonary vasculature Clubbing Intestinal obstruction Iron deficiency anemia Abnormality of the ureter Predominantly lower limb lymphedema Psoriasiform dermatitis Varicose veins Thyroid nodule Schwannoma Uterine leiomyoma Follicular hyperplasia Pituitary prolactin cell adenoma Multiple lentigines Red hair Growth hormone deficiency Paraganglioma Profuse pigmented skin lesions Pheochromocytoma Thyroid carcinoma Generalized hypopigmentation Pituitary adenoma Macroorchidism Blue irides Cardiac myxoma Thyroid follicular hyperplasia Bipolar affective disorder Diabetes mellitus Cleft upper lip Paresthesia Abnormality of the liver Proteinuria Anxiety Photophobia Hypogonadism Myxoid subcutaneous tumors Arrhythmia Patent ductus arteriosus Ptosis Bruising susceptibility Cleft palate Cutaneous myxoma Increased circulating cortisol level Webbed neck Congenital shortened small intestine Respiratory distress Stroke Abnormality of the eye Myalgia Dyspnea Weight loss Congestive heart failure Corneal erosion Abnormality of the skin Fatigue Venous insufficiency Precocious puberty with Sertoli cell tumor Distichiasis Endolymphatic sac tumor Renal duplication Confusion Palpitations Lymphedema Heart murmur Conjunctivitis Growth hormone excess Recurrent skin infections Striae distensae Freckling Neurofibromas Ectropion Tubulointerstitial nephritis Ischemic stroke Glomerulopathy Sclerodactyly Increased body weight Overweight Tall stature Premature loss of permanent teeth Male infertility Palmoplantar hyperhidrosis Multiple lipomas Exotropia Lymphopenia Neoplasm of the skin Cranial nerve paralysis Drooling Increased intracranial pressure Hypopigmented skin patches Incoordination Dysdiadochokinesis Intracranial hemorrhage Hand polydactyly Cutis marmorata Abnormality of the thyroid gland Cystic hygroma Subcutaneous nodule Multiple cafe-au-lait spots Acute myeloid leukemia Hodgkin lymphoma Scaphocephaly Abnormality of the vasculature Papilledema Prolactin excess Megalencephaly Arteriovenous malformation Abnormality of the uterus Bone cyst Cellular immunodeficiency Long penis Cavernous hemangioma Chronic diarrhea Broad thumb Papilloma Frontal bossing Global developmental delay Generalized hypotonia Ataxia Hypertelorism Failure to thrive Low-set ears Cognitive impairment Delayed speech and language development Motor delay Brachydactyly Skeletal muscle atrophy Macrocephaly Downslanted palpebral fissures Tremor Hydrocephalus Overgrowth Atrial septal defect Myopathy Immunodeficiency Recurrent infections Autism Intellectual disability, moderate Leukemia Nausea and vomiting Joint hypermobility Polymicrogyria Abnormal cerebellum morphology Macroglossia Lymphoma Decreased antibody level in blood Enlarged polycystic ovaries Generalized hyperkeratosis Ovotestis Abnormal internal genitalia Gonadoblastoma Absence of secondary sex characteristics Decreased serum estradiol Abnormal vagina morphology Elevated circulating luteinizing hormone level Urogenital sinus anomaly Decreased fertility in females Primary gonadal insufficiency Decreased testosterone in males Streak ovary Hypoplasia of the vagina Female external genitalia in individual with 46,XY karyotype Abnormality of the scrotum Abnormal sex determination Ovarian gonadoblastoma Sparse pubic hair Testicular gonadoblastoma Vanishing testis Abnormality of the labia Strabismus Hyperkeratosis Corneal opacity Nail dystrophy Small nail Hypertriglyceridemia Hypercholesterolemia Premature ovarian insufficiency Squamous cell carcinoma Sex reversal Squamous cell carcinoma of the skin Elevated circulating follicle stimulating hormone level Sparse axillary hair Neoplasm of the central nervous system Ductal carcinoma in situ Decreased proportion of CD4-positive T cells Adenoma sebaceum Abnormality of the penis Ovarian carcinoma Colorectal polyposis Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Merkel cell skin cancer Increased circulating gonadotropin level Delayed puberty Gonadal dysgenesis Nephroblastoma Hypergonadotropic hypogonadism Primary amenorrhea Nephrotic syndrome Hypoplasia of penis Micropenis Multiple trichilemmomata Delayed skeletal maturation Cryptorchidism Soft tissue sarcoma Retinoblastoma Prostate cancer Lobular carcinoma in situ Lipedema


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