From HPO
Palmoplantar keratoderma- MedGen UID:
- 1635750
- •Concept ID:
- C4551675
- •
- Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Erythroderma- MedGen UID:
- 3767
- •Concept ID:
- C0011606
- •
- Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Hypernatremic dehydration- MedGen UID:
- 340564
- •Concept ID:
- C1850544
- •
- Finding
Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.
Congenital nonbullous ichthyosiform erythroderma- MedGen UID:
- 38180
- •Concept ID:
- C0079154
- •
- Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Epidermal acanthosis- MedGen UID:
- 65136
- •Concept ID:
- C0221270
- •
- Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Orthokeratosis- MedGen UID:
- 375169
- •Concept ID:
- C1843359
- •
- Finding
Formation of an anuclear keratin layer
Generalized hyperkeratosis- MedGen UID:
- 370776
- •Concept ID:
- C1969913
- •
- Finding
Abnormal blistering of the skin- MedGen UID:
- 412159
- •Concept ID:
- C2132198
- •
- Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Hypergranulosis- MedGen UID:
- 481177
- •Concept ID:
- C3279547
- •
- Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
Keratinocyte vacuolization- MedGen UID:
- 905510
- •Concept ID:
- C4230513
- •
- Finding
Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.
Cobblestone-like hyperkeratosis- MedGen UID:
- 1626235
- •Concept ID:
- C4531224
- •
- Disease or Syndrome
The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the integument