Breast carcinoma, and Papule

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

• Neoplasm
• Carcinoma
• Papule
• Nevus
• Melanoma

SOURCES: ORPHANET OMIM MENDELIAN

Medium match COWDEN SYNDROME 7; CWS7

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

SOURCES: OMIM MENDELIAN

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

• Neoplasm
• Pain
• Dilatation
• Depressivity
• Hyperkeratosis

SOURCES: ORPHANET OMIM MENDELIAN

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

• Neoplasm
• Pain
• Cataract
• Carcinoma
• Skin rash

SOURCES: MESH OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

• Seizures
• Ataxia
• Macrocephaly
• Hydrocephalus
• Headache

SOURCES: ORPHANET MENDELIAN

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.

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

SOURCES: ORPHANET MENDELIAN