U.S. flag

An official website of the United States government


Send to:

Choose Destination

Palmoplantar keratoderma, nonepidermolytic, focal 1(FNEPPK1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: FNEPPK1; Palmoplantar keratoderma, nonepidermolytic, focal
Gene (location): KRT16 (17q21.2)
Monarch Initiative: MONDO:0013073
OMIM®: 613000


Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by Kelsell et al., 1995). [from OMIM]

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
Concept ID:
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Bullous ichthyosiform erythroderma
MedGen UID:
Concept ID:
Disease or Syndrome
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).\n\nAs affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.\n\nEpidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.\n\nEpidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.
Keratosis pilaris
MedGen UID:
Concept ID:
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
MedGen UID:
Concept ID:
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Perioral hyperkeratosis
MedGen UID:
Concept ID:
Disease or Syndrome
Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...