U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ichthyosis follicularis with alopecia and photophobia (IFAP)

MedGen UID:
698391
•Concept ID:
C1275091
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Ichthyosis follicularis with alopecia and photophobia; IFAP - ichthyosis follicularis with alopecia and photophobia
SNOMED CT: Ichthyosis follicularis with alopecia and photophobia (IFAP) (403782004); IFAP - ichthyosis follicularis with alopecia and photophobia (403782004); Ichthyosis follicularis with alopecia and photophobia (403782004)

Professional guidelines

PubMed

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH
Hum Mutat 2013 Apr;34(4):587-94. Epub 2013 Mar 8 doi: 10.1002/humu.22275. PMID: 23316014

Recent clinical studies

Diagnosis

Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18-year-old man.
Binić I, Janković A, Ljubenović M
Int J Dermatol 2011 Apr;50(4):450-3. doi: 10.1111/j.1365-4632.2010.04501.x. PMID: 21413958
Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome.
Rai VM, Shenoi SD
Indian J Dermatol Venereol Leprol 2006 Mar-Apr;72(2):136-8. doi: 10.4103/0378-6323.25640. PMID: 16707821

Prognosis

Ichthyosis follicularis with alopecia and photophobia in a mother and daughter.
Sato-Matsumura KC, Matsumura T, Kumakiri M, Hosokawa K, Nakamura H, Kobayashi H, Ohkawara A
Br J Dermatol 2000 Jan;142(1):157-62. doi: 10.1046/j.1365-2133.2000.03260.x. PMID: 10651714

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...