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1.

Follicular atrophoderma and basal cell epitheliomata

Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. [from GTR]

MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
2.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
3.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Hypotrichosis

A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. [from NCI]

MedGen UID:
6993
Concept ID:
C0020678
Congenital Abnormality; Finding; Finding
5.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
6.

Basal cell carcinoma

The presence of a basal cell carcinoma of the skin. [from HPO]

MedGen UID:
505327
Concept ID:
CN002427
Finding
7.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
8.

Dermal atrophy

Partial or complete wasting (atrophy) of the skin. [from HPO]

MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
9.

Follicular atrophoderma

MedGen UID:
98354
Concept ID:
C0406563
Disease or Syndrome
10.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
11.

Neoplasm of the skin

A primary or metastatic tumor involving the skin. Primary malignant skin tumors most often are carcinomas (either basal cell or squamous cell carcinomas that arise from cells in the epidermis) or melanomas that arise from pigment-containing skin melanocytes. Metastatic tumors to the skin include carcinomas and lymphomas. [from NCI]

MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
12.

Hereditary cancer-predisposing syndrome

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
13.

Basal Cell Neoplasm

A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. [from NCI]

MedGen UID:
104921
Concept ID:
C0206710
Neoplastic Process
14.

Carcinomatosis

Carcinoma that has spread diffusely to an anatomic site or throughout the body. [from NCI]

MedGen UID:
104704
Concept ID:
C0205699
Neoplastic Process
15.

Undifferentiated Carcinoma

A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. [from NCI]

MedGen UID:
60010
Concept ID:
C0205698
Neoplastic Process
16.

Sarcomatoid Carcinoma

A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. [from NCI]

MedGen UID:
60009
Concept ID:
C0205697
Neoplastic Process
17.

Carcinoma, anaplastic

MedGen UID:
60008
Concept ID:
C0205696
Neoplastic Process
18.

Disorder of hair

A non-neoplastic or neoplastic disorder involving the hair. Representative examples include folliculitis, alopecia, tricholemmoma, and pilomatrical carcinoma. [from NCI]

MedGen UID:
42323
Concept ID:
C0018500
Disease or Syndrome
19.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
20.

Neoplasm of the skin

A tumor (abnormal growth of tissue) of the skin. [from HPO]

MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
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