Breast carcinoma, and Psoriasiform dermatitis

Diseases related with Breast carcinoma and Psoriasiform dermatitis

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Psoriasiform dermatitis that can help you solving undiagnosed cases.


Top matches:

High match PEUTZ-JEGHERS SYNDROME; PJS


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

Medium match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

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Other less relevant matches:

Medium match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1


Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013). Genetic Heterogeneity of Central Precocious PubertyCentral precocious puberty-2 (CPPB2 ) is caused by mutation in the MKRN3 gene (OMIM ) on chromosome 15q11.

Related symptoms:

  • Short stature
  • Neoplasm
  • Obesity
  • Hypothyroidism
  • Abnormality of the cardiovascular system


SOURCES: OMIM MENDELIAN

More info about PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1

Low match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match COWDEN SYNDROME 7; CWS7


Related symptoms:

  • Neoplasm
  • Macrocephaly
  • Papule
  • Neoplasm of the skin
  • Hemangioma


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 7; CWS7

Low match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Breast carcinoma and Psoriasiform dermatitis

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Overgrowth Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Psoriasiform dermatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Hepatomegaly Carcinoma Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Splenomegaly Camptodactyly Hyperactivity Apnea Hypoglycemia Telangiectasia Aspiration Patent ductus arteriosus Amenorrhea Delayed speech and language development Macrocephaly Primary amenorrhea Ventricular septal defect Hypogonadism Strabismus Alopecia Hallux valgus Hypergonadotropic hypogonadism Cleft palate Autistic behavior Autism Ptosis Abnormal heart morphology Intellectual disability, mild Diabetes mellitus Hydrocephalus Ventriculomegaly Fever Hypothyroidism Anemia Failure to thrive Intellectual disability Hypertelorism Growth delay Generalized hypotonia Global developmental delay Malabsorption Recurrent fractures Enlarged kidney Mitral valve prolapse Seizures Pneumonia Ovarian neoplasm Cafe-au-lait spot Exocrine pancreatic insufficiency Neoplasm of the skin Back pain Leukemia Neoplasm of the pancreas Intestinal polyposis Leiomyosarcoma Abnormality of the cardiovascular system Papule Hemangioma Accelerated skeletal maturation Gynecomastia Gastrointestinal stroma tumor Pruritus Headache Aspiration pneumonia Abdominal pain Edema Diarrhea Ataxia Precocious puberty Hypertension Dilatation Sensory axonal neuropathy Specific learning disability Gastrointestinal hemorrhage Clitoral hypertrophy Lymphoma Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Tetralogy of Fallot Reduced bone mineral density Coarctation of aorta Hypsarrhythmia Aganglionic megacolon Cataract Isosexual precocious puberty Bone pain Sarcoma Sensorimotor neuropathy Incoordination Premature thelarche Spina bifida Atherosclerosis Venous thrombosis Skin rash Cutaneous leiomyosarcoma Genu valgum Peripheral neuropathy Cardiomyopathy Respiratory insufficiency Uterine leiomyoma Barrett esophagus Vaginal neoplasm Uterine leiomyosarcoma Dysarthria Cutaneous leiomyoma Behavioral abnormality Visual impairment Multiple cutaneous leiomyomas Cognitive impairment Abnormal facial shape Papillary renal cell carcinoma type 2 Scoliosis Decreased fumarate hydratase activity Blindness Papillary renal cell carcinoma Pulmonic stenosis Glaucoma Attention deficit hyperactivity disorder Paralysis Hematuria Hypertrophic cardiomyopathy Osteopenia Kyphoscoliosis Nephroblastoma Basal cell carcinoma Abnormality of cardiovascular system morphology Abnormality of the musculature Renal neoplasm Osteoporosis Visual loss Low back pain Depressivity Bladder neoplasm Abnormality of the skeletal system Neoplasm of the endocrine system Hypophosphatemia Trichilemmoma Increased level of L-fucose in urine Pancreatic adenocarcinoma Chronic pancreatitis Colon cancer Melanoma Pancreatitis Jaundice Fatigue Ductal carcinoma in situ Fibroadenoma of the breast Nystagmus Papillary thyroid carcinoma Papilloma Hashimoto thyroiditis Abnormality of the thyroid gland Goiter Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Microcephaly Muscular hypotonia Inguinal freckling Tetraplegia Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Hypoventilation Delayed gross motor development Leukopenia Spastic tetraplegia Febrile seizures Iris coloboma Motor delay Lethargy Coloboma Agenesis of corpus callosum Encephalopathy Thrombocytopenia Cerebral atrophy Microphthalmia Hypertonia Optic atrophy Spinal neurofibromas Plexiform neurofibroma Pulmonary fibrosis Elevated circulating luteinizing hormone level Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Meningioma Carcinoid tumor Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Paraganglioma Rhabdomyosarcoma Acute promyelocytic leukemia Single ventricle Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Pseudoarthrosis Nasolacrimal duct obstruction Soft tissue sarcoma Epigastric pain Dural ectasia Fibular bowing Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Adrenogenital syndrome Decreased serum testosterone level Elevated circulating follicle stimulating hormone level Polydactyly Abnormality of the outer ear Abnormality of the face Omphalocele Premature birth Macroglossia Renal cyst Umbilical hernia Coarse facial features Inguinal hernia Supernumerary nipple Hypospadias Cryptorchidism Lacrimal duct atresia Split foot Ectrodactyly Hypoplastic nipples Gonadal dysgenesis Joint contracture of the hand Large for gestational age Neuroblastoma Split hand Abdominal wall defect Flexion contracture Sensorineural hearing impairment Hearing impairment Postauricular pit Auricular pit Prune belly Embryonal neoplasm Anterior creases of earlobe Tethered cord Syringomyelia Abnormality of earlobe Visceromegaly Hemihypertrophy Diastasis recti Skin tags Abnormality of the vasculature Neonatal hypoglycemia Nevus flammeus Central hypotonia Hypohidrosis Nail dysplasia Hyperreflexia Macule Ovarian cyst Multiple myeloma Clubbing of fingers Abnormality of the mouth Vitiligo Abnormality of the ureter Iron deficiency anemia Hamartoma Hypermelanotic macule Biliary tract abnormality Intestinal obstruction Clubbing Melanocytic nevus Polycystic kidney dysplasia Growth abnormality Nevus Abdominal distention Hyperhidrosis Pancreatic cysts Rectal prolapse Ectodermal dysplasia Gastrointestinal carcinoma Bifid uvula Hypodontia Syndactyly Precocious puberty with Sertoli cell tumor Endolymphatic sac tumor Congenital shortened small intestine Thyroid nodule Uterine neoplasm Clear cell renal cell carcinoma Nasal polyposis Intussusception Intestinal polyp Testicular neoplasm Bloody diarrhea Thrombophlebitis Hematemesis Intestinal bleeding Hamartomatous polyposis Neoplasm of the breast Epicanthus Brachydactyly Acne Scleroderma Nasal obstruction Recurrent pharyngitis Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Severe sensorineural hearing impairment Episodic fever Polycythemia Lipoatrophy Histiocytosis Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Leukocytosis Hyperglycemia Stridor Lipodystrophy Sleep apnea Skin nodule Reticulocytopenia Plagiocephaly Snoring Type II diabetes mellitus Obesity Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Episcleritis Chronic rhinitis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Azoospermia Osteolysis Wide nasal bridge Proptosis Pectus carinatum Retinopathy Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Conductive hearing impairment Hepatosplenomegaly Pes planus Dyspnea Micropenis Delayed puberty Hyperkeratosis Posteriorly rotated ears Severe short stature Delayed skeletal maturation Clinodactyly Hernia Atrial septal defect Anteverted nares Frontal bossing Hypotrichosis Abnormality of the foot Type I diabetes mellitus Epidermal acanthosis Elbow flexion contracture Hyperpigmentation of the skin Gingival overgrowth Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Cardiomegaly Lymphadenopathy Bilateral sensorineural hearing impairment Decreased testicular size Wide intermamillary distance Growth hormone deficiency Full cheeks Polyneuropathy Flat face Cleft upper lip Ichthyosis Uraciluria



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