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IFAP syndrome 2(IFAP2)

MedGen UID:
1763502
Concept ID:
C5436607
Disease or Syndrome
Synonym: ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME 2
 
Gene (location): SREBF1 (17p11.2)
 
Monarch Initiative: MONDO:0100221
OMIM®: 619016

Definition

Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa (Wang et al., 2020). For a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 (308205). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Keratitis
MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Inflammation of the cornea.
Keratoconjunctivitis sicca
MedGen UID:
9620
Concept ID:
C0022575
Disease or Syndrome
Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Posterior blepharitis
MedGen UID:
698924
Concept ID:
C1275684
Disease or Syndrome
A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.
Angular cheilitis
MedGen UID:
526202
Concept ID:
C0221237
Disease or Syndrome
A type of inflammation of the lips involving one or both of the corners of the mouth.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Atrichia
MedGen UID:
675288
Concept ID:
C0702167
Disease or Syndrome
The most dramatic and severe form of hair loss characterized by an absence of hair follicles.
Perioral erythema
MedGen UID:
340873
Concept ID:
C1855458
Finding
Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.
Ichthyosis follicularis
MedGen UID:
1615578
Concept ID:
C4531223
Disease or Syndrome
Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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

Etiology

Qiu J, Zhou W, Zhou W, Tang X, Yuan Q, Zhu X, Yang Y, Xiong J
Ann Vasc Surg 2016 Oct;36:35-43. Epub 2016 Jul 15 doi: 10.1016/j.avsg.2016.03.030. PMID: 27427346

Diagnosis

Irurzun I, Natale MI, Agostinelli ML, Lamberti M, Montero D, Granda C, Mássimo JA, Manzur GB, Valinotto LE
Pediatr Dermatol 2021 May;38(3):568-574. Epub 2021 Mar 19 doi: 10.1111/pde.14560. PMID: 33742461
Jiang Y, Jin H, Zeng Y
Mol Genet Genomic Med 2019 Aug;7(8):e812. Epub 2019 Jun 18 doi: 10.1002/mgg3.812. PMID: 31215178Free PMC Article
Ferrari B, Morita L, Choate K, Hu RH
Dermatol Online J 2017 Feb 15;23(2) PMID: 28329493
König A, Happle R
Am J Med Genet 1999 Aug 6;85(4):365-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<365::aid-ajmg12>3.0.co;2-#. PMID: 10398262
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

Therapy

König A, Happle R
Am J Med Genet 1999 Aug 6;85(4):365-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<365::aid-ajmg12>3.0.co;2-#. PMID: 10398262

Prognosis

Traboulsi E, Waked N, Mégarbané H, Mégarbané A
Ophthalmic Genet 2004 Jun;25(2):153-6. doi: 10.1080/13816810490514405. PMID: 15370546
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

Clinical prediction guides

Lim PJ, Marcionelli G, Srikanthan P, Ndarugendamwo T, Pinner J, Rohrbach M, Giunta C
Front Endocrinol (Lausanne) 2023;14:1195704. Epub 2023 May 25 doi: 10.3389/fendo.2023.1195704. PMID: 37305034Free PMC Article
Tang L, Liang J, Wang W, Yu L, Yao Z
J Am Acad Dermatol 2011 Apr;64(4):716-22. doi: 10.1016/j.jaad.2010.02.045. PMID: 21315478
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

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