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IFAP syndrome

MedGen UID:
327007
•Concept ID:
C1839988
•
Disease or Syndrome
Synonyms: Ichthyosis follicularis atrichia photophobia syndrome; Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
 
Related genes: MBTPS2, SREBF1
 
Monarch Initiative: MONDO:0100212
OMIM® Phenotypic series: PS308205

Definition

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth. [from ORPHANET]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for IFAP syndrome in Orphanet.

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

Etiology

Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
Basilious A, Fung SSM, Ali A
Cornea 2020 Oct;39(10):1321-1324. doi: 10.1097/ICO.0000000000002393. PMID: 32482964
Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature.
Shakibazad N, Shahriari M, Inaloo S
J Pediatr Hematol Oncol 2018 Apr;40(3):227-230. doi: 10.1097/MPH.0000000000000894. PMID: 28654459
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.
Cambiaghi S, Barbareschi M, Tadini G
J Am Acad Dermatol 2002 May;46(5 Suppl):S156-8. doi: 10.1067/mjd.2002.112930. PMID: 12004300

Diagnosis

Meibomian Gland Dysfunction as a Manifestation of IFAP Syndrome.
Shang Y, Liang L
Ophthalmology 2023 Dec;130(12):1357. Epub 2023 May 16 doi: 10.1016/j.ophtha.2023.03.022. PMID: 37191591
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.
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
Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature.
Shakibazad N, Shahriari M, Inaloo S
J Pediatr Hematol Oncol 2018 Apr;40(3):227-230. doi: 10.1097/MPH.0000000000000894. PMID: 28654459
Inherited ichthyosis: Syndromic forms.
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
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

Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
Basilious A, Fung SSM, Ali A
Cornea 2020 Oct;39(10):1321-1324. doi: 10.1097/ICO.0000000000002393. PMID: 32482964
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Mégarbané H, Mégarbané A
Orphanet J Rare Dis 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. PMID: 21600032Free PMC Article
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin.
Khandpur S, Bhat R, Ramam M
J Eur Acad Dermatol Venereol 2005 Nov;19(6):759-62. doi: 10.1111/j.1468-3083.2005.01318.x. PMID: 16268889
Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).
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
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, Pfeiffer RA, Naumann GO
Arch Ophthalmol 1999 May;117(5):681-4. doi: 10.1001/archopht.117.5.681. PMID: 10326971

Prognosis

Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
Traboulsi E, Waked N, Mégarbané H, Mégarbané A
Ophthalmic Genet 2004 Jun;25(2):153-6. doi: 10.1080/13816810490514405. PMID: 15370546
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.
Cambiaghi S, Barbareschi M, Tadini G
J Am Acad Dermatol 2002 May;46(5 Suppl):S156-8. doi: 10.1067/mjd.2002.112930. PMID: 12004300
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
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

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.
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
Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly.
Kamo M, Ohyama M, Kosaki K, Amagai M, Ebihara T, Nakayama J, Ishiko A
Am J Dermatopathol 2011 Jun;33(4):403-6. doi: 10.1097/DAD.0b013e3181e8b562. PMID: 21242756
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin.
Khandpur S, Bhat R, Ramam M
J Eur Acad Dermatol Venereol 2005 Nov;19(6):759-62. doi: 10.1111/j.1468-3083.2005.01318.x. PMID: 16268889
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
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
Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome.
Hamm H, Meinecke P, Traupe H
Eur J Pediatr 1991 Jul;150(9):627-9. doi: 10.1007/BF02072621. PMID: 1915513

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