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Results: 8

1.

Ichthyosis

Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. [from MeSH]

MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
2.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
3.

Congenital bullous ichthyosiform erythroderma

An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. [from HPO]

MedGen UID:
506075
Concept ID:
CN006553
Finding
4.

Hyperkeratosis

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. [from HPO]

MedGen UID:
504662
Concept ID:
CN000900
Finding
5.

Ichthyosis

An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. [from HPO]

MedGen UID:
429191
Concept ID:
CN007091
Finding
6.

Hyperkeratosis

skin thickening caused by excessive production of a protein called keratins [from CHV]

MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
7.

Bullous ichthyosiform erythroderma

Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006). Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities. A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1. [from OMIM]

MedGen UID:
38179
Concept ID:
C0079153
Disease or Syndrome
8.

Congenital ichthyosiform erythroderma

An ichthyosiform abnormality of the skin with congenital onset. [from HPO]

MedGen UID:
506069
Concept ID:
CN006510
Finding

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