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Items: 12

1.

Kindler syndrome

Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (which is most prominent during childhood and usually decreases after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, esophageal strictures/stenosis, anal stenosis, colitis, urethral stenosis/strictures, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe. [from NCBI]

MedGen UID:
96060
Concept ID:
C0406557
Congenital Abnormality; Disease or Syndrome
2.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
3.

Epidermolysis bullosa

A group of chronic skin disorders in which fluid-filled blisters form on the skin and mucosa (the moist, inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually starts at birth. Patients with epidermolysis bullosa may be at increased risk of squamous cell cancer of the skin. [from NCI]

MedGen UID:
41832
Concept ID:
C0014527
Congenital Abnormality; Disease or Syndrome
4.

Inflammation

A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
5.

Photoparoxysmal response 1

The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation (Doose and Waltz, 1993). Photosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see 600669), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy (Stephani et al., 2004; Tauer et al., 2005). Genetic Heterogeneity of Photoparoxysmal Response The PPR1 locus has been mapped to chromosome 6p21. See also PPR2 (609572), mapped to chromosome 13q31, and PPR3 (609573), mapped to chromosome 7q32. [from OMIM]

MedGen UID:
358382
Concept ID:
C1868677
Congenital Abnormality; Disease or Syndrome
6.

Dermal atrophy

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

MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
7.

Photogenic epilepsy

MedGen UID:
98285
Concept ID:
C0393720
Disease or Syndrome
8.

Poikiloderma

Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. [from HPO]

MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
9.

Cutaneous photosensitivity

increased sensitivity of the skin to light and other sources of UV [from CHV]

MedGen UID:
87601
Concept ID:
C0349506
Finding; Pathologic Function
10.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
11.

Abnormality of the skin

An abnormality of the skin. [from HPO]

MedGen UID:
11449
Concept ID:
C0037268
Disease or Syndrome; Finding
12.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
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