U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Epidermolytic hyperkeratosis 2A, autosomal dominant(EHK2A)

MedGen UID:
1846123
Concept ID:
C5882671
Disease or Syndrome
Synonym: EHK2A
 
Gene (location): KRT10 (17q21.2)
 
Monarch Initiative: MONDO:0700248
OMIM®: 620150

Definition

Autosomal dominant epidermolytic hyperkeratosis-2A (EHK2A) is a skin disorder characterized by blistering, keratoderma, and erythroderma. Severity and body involvement show clinical heterogeneity (summary by Syder et al., 1994). While the neonatal presentation is often blistering and redness, the primary features of the disorder are hyperkeratosis (thickening of the uppermost layer of the epidermis, the stratum corneum) and blistering (summary by Chipev et al., 1994). For a discussion of genetic heterogeneity of epidermolytic hyperkeratosis, see EHK1 (113800). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
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.
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.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...