U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Basaran Yilmaz syndrome

MedGen UID:
419444
Concept ID:
C2931577
Disease or Syndrome
Synonym: Keratoderma, hypotrichosis and leukonychia totalis
 
Monarch Initiative: MONDO:0021979

Definition

A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. [from MONDO]

Recent clinical studies

Clinical prediction guides

Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y
Hum Mol Genet 2015 Jan 1;24(1):243-50. Epub 2014 Aug 28 doi: 10.1093/hmg/ddu442. PMID: 25168385

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...