U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyperkeratosis follicularis in cutem penetrans

MedGen UID:
75516
Concept ID:
C0263382
Disease or Syndrome
Synonyms: Hyperkeratosis follicularis et parafollicularis in cutem penetrans; Kyrle disease; Kyrle's disease
SNOMED CT: Keratosis follicularis et parafollicularis in cutem penetrans (34042008); Hyperkeratosis follicularis et parafollicularis in cutem penetrans (34042008); Hyperkeratosis follicularis in cutem penetrans (34042008); Kyrle's disease (34042008); Hyperkeratosis penetrans (34042008)
 
Monarch Initiative: MONDO:0007869
OMIM®: 149500

Definition

Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. [from MONDO]

Clinical features

From HPO
Abnormality of the skin
MedGen UID:
1845238
Concept ID:
C5848159
Anatomical Abnormality
An abnormality of the skin.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.

Recent clinical studies

Diagnosis

Keuper CS
Arch Dermatol 1965 Oct;92(4):476-7. doi: 10.1001/archderm.92.4.476. PMID: 5835344

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...