Breast carcinoma, and Papule

Diseases related with Breast carcinoma and Papule

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


Top matches:

Medium match BAP1-RELATED TUMOR PREDISPOSITION SYNDROME


BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.

BAP1-RELATED TUMOR PREDISPOSITION SYNDROME Is also known as tumor susceptibility linked to germline bap1 mutations

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Papule
  • Nevus
  • Melanoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BAP1-RELATED TUMOR PREDISPOSITION SYNDROME

Medium 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

Medium match PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1


Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i|ppkp1|keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|buschke-fischer-brauer syndrome|keratosis palmoplantaris papulosa|kppp1

Related symptoms:

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

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Other less relevant matches:

Medium 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

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

Medium match SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME


Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Medium match LHERMITTE-DUCLOS DISEASE


Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

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 NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as nthl1-related attenuated fap|nthl1-related afap

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nevus
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Low match APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as apc-related afap|apc-related attenuated familial polyposis coli|apc-related attenuated fap

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Top 5 symptoms//phenotypes associated to Breast carcinoma and Papule

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Ovarian neoplasm Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Trichilemmoma Pain Hodgkin lymphoma Fibroadenoma of the breast Meningioma Neoplasm of the pancreas Basal cell carcinoma Squamous cell carcinoma Neoplasm of the thyroid gland

Rare Symptoms - Less than 30% cases


Leukemia Seizures Short stature Ataxia Hydrocephalus Headache Hypothyroidism Cataract Bladder neoplasm Cranial nerve paralysis Nausea and vomiting Macroglossia Lymphoma Subcutaneous nodule Cafe-au-lait spot Increased intracranial pressure Hand polydactyly Hamartoma Arteriovenous malformation Acrokeratosis Enlarged cerebellum Transitional cell carcinoma of the bladder Polymicrogyria Hashimoto thyroiditis Dilatation Papilloma Hemangioma Intestinal polyposis Goiter Nevus Abnormality of the thyroid gland Palmoplantar keratoderma Ductal carcinoma in situ Melanoma Parakeratosis Ovarian cyst Bone cyst Cellular immunodeficiency Cavernous hemangioma Long penis Enlarged polycystic ovaries Hamartomatous polyposis Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Astrocytoma Hydrocele testis Abnormality of the uterus Thyroiditis Multiple lipomas Cystic hygroma Cellulitis Multiple cafe-au-lait spots Acute myeloid leukemia Uveal melanoma Hyperthyroidism Scaphocephaly Furrowed tongue Lipoma Abnormality of the vasculature Papilledema Prolactin excess Skin tags Megalencephaly Abnormality of the penis Lung adenocarcinoma Subcutaneous lipoma Ovarian carcinoma Angioid streaks of the fundus Accelerated skeletal maturation Visceral angiomatosis Excessive wrinkled skin Neoplasm of the breast Lymphangioma Upper limb asymmetry Obesity Abnormality of the cardiovascular system Type II diabetes mellitus Precocious puberty Lower limb asymmetry Acne Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Adrenogenital syndrome Premature thelarche Isosexual precocious puberty Prostate cancer Bladder carcinoma Venous insufficiency Hemiplegia/hemiparesis Cutis marmorata Mucosal telangiectasiae Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Progressive macrocephaly Pseudopapilledema Cutaneous melanoma Reduced bone mineral density Cutis marmorata telangiectatica congenita Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Congestive heart failure Talipes Recurrent fractures Macule Palmoplantar hyperkeratosis Melanocytic nevus Abnormality of the skin Multiple cutaneous leiomyomas Papillary renal cell carcinoma type 2 Decreased fumarate hydratase activity Cutaneous leiomyosarcoma Intellectual disability Epidermal acanthosis Global developmental delay Generalized hypotonia Uterine leiomyosarcoma Hearing impairment Scoliosis Hypertelorism Failure to thrive Micrognathia Muscle weakness Low-set ears Cognitive impairment Cutaneous leiomyoma Vaginal neoplasm Delayed speech and language development Back pain Orthokeratosis Colon cancer Scaling skin Skin rash Abnormality of the nail Pruritus Hematuria Nephroblastoma Barrett esophagus Abnormality of the musculature Renal neoplasm Low back pain Leiomyosarcoma Thickened skin Gastrointestinal stroma tumor Papillary renal cell carcinoma Uterine leiomyoma High palate Motor delay Malignant mesothelioma Chronic diarrhea Hypoplasia of the maxilla Abnormal cerebellum morphology Decreased antibody level in blood Overgrowth Intention tremor Broad thumb Telangiectasia Exotropia Joint hypermobility Gynecomastia Lymphopenia Drooling Hypopigmented skin patches Hypergranulosis Incoordination Dysdiadochokinesis Intracranial hemorrhage Papillary thyroid carcinoma Abnormality of the kidney Brachydactyly Diarrhea Myopia Skeletal muscle atrophy Downslanted palpebral fissures Tremor Frontal bossing Hyperkeratosis Atrial septal defect Myopathy Intellectual disability, mild Intellectual disability, moderate Kyphosis Immunodeficiency Depressivity Recurrent infections Pectus excavatum Autism Narrow mouth Proximal muscle weakness Duodenal adenocarcinoma



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