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Journals / Türkderm-Deri Hastalıkları ve Frengi Arşivi / 2014 / Cilt: 48 - Sayı: 2

Thecaseofichthyosisfollicularis,alopeciaandphotophobia syndrome with retinal detachment

Retinadekolmanınıneşlikettiği iktiyozis folikülaris, alopesi ve fotofobi sendromlu bir olgu

Bengü AKAY NİSA
Seçil SARAL
Aynur AKYOL
Nehir PARLAK
Pages
108–110
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The patient is presented for the rarity of the syndrome in the literature. (Turkderm 2014; 48: 108-10)

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is a rare congenital ectodermal syndrome with X-linked inheritance.
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Key Findings & Data:It occurs as a result of missense mutation in the chromosome Xp22.11-Xp22.13 locus of the MBTPS2 gene.
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Conclusion & Impact:The patient is presented for the rarity of the syndrome in the literature. (Turkderm 2014; 48: 108-10)
🔬Design:Research Article
📍Scope:2014 Verileri
⚙️Variables:Domain Parameters

Abstract

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is a rare congenital ectodermal syndrome with X-linked inheritance. It occurs as a result of missense mutation in the chromosome Xp22.11-Xp22.13 locus of the MBTPS2 gene. It usually affects men and family history is negative. Ichthyosis follicularis and alopecia starts with birth. Photophobia and eye symptoms begin in early infancy or childhood. Other manifestations of the syndrome include short stature, mental retardation and seizures. There are no specific histopathological finding. A 29-year-old male patient was admitted to our outpatient clinic. Dermatological examination revealed keratosis pilaris localized to the scalp, lower and upper extremities, thighs, face and the trunk. The patient had xerosis, diffuse alopecia and prominent hair follicles. Eye examination revealed cataract and vision loss in the right eye. These findings led us to the diagnosis of IFAP syndrome. The patient is presented for the rarity of the syndrome in the literature. (Turkderm 2014; 48: 108-10)

Özet

İktiyozis folikülaris, alopesi ve fotofobi (İFAF) sendromu Xe bağlı kalıtılan, nadir görülen konjenital ektodermal bir sendromdur. Xp22.11- Xp22.13 bölgesindeki MBTPS2 geninde missense mutasyon sonucu oluşur. Genellikle erkekleri etkiler ve aile öyküsü bulunmaz. İktiyozis folikülaris ve alopesi doğumdan itibaren görülürken, fotofobi erken çocukluk dönemine kadar görülebilir. Kısa boy, mental retardasyon, nöbet görülebilen diğer ek bulgulardır. Spesifik histopatolojik bulgusu yoktur. Yirmi dokuz yaşında bir erkek hasta polikliniğimize başvurdu. Yapılan muayenesinde saçlı deride, kollarda, bacaklarda, gövdede, yüzde ve uyluklarda yaygın keratozis pilaris, saçlı deride difüz alopesi saptandı. Sağ gözde katarakt ve görme kaybı tespit edildi. Bu bulgularla İFAF sendromu tanısı konulan olgumuz literatürde oldukça nadir görülmesi nedeniyle sunulmaktadır. (Türk­derm 2014; 48: 108-10)

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Cite This Article

NİSA, B. A., SARAL, S., AKYOL, A., PARLAK, N. (2022). Thecaseofichthyosisfollicularis,alopeciaandphotophobia syndrome with retinal detachment. Türkderm-Deri Hastalıkları ve Frengi Arşivi, Cilt: 48 - Sayı: 2, 108–110. https://ajindex.com/articles/621850

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References (12)

  1. McLeod JMH: Three cases of ''ichthyosis follicularis'' associated with baldness. Br J Dermatol 1909;21:165-89.
  2. Megarbane H, Megarbane A: Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis 2011;6:29. Tang L, Liang J, Wang W, Yu L, Yao Z: A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family. J Am Acad Dermatol 2011;64:716-22.
  3. Binic I, Jankovic A, Ljubenovic M: Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18-year-old man. Int J Dermatol 2011;50:450-3.
  4. Cambiaghi S, Barbareschi M, Tadini G: Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. J Am Acad Dermatol 2002;46:S156-8. Khandpur S, Bhat R, Ramam M: Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin. J Eur Acad Dermatol Venereol 2005;19:759-62.
  5. Alshami M, Bawazir MA, Atwan AA: Photoletter to the editor: A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. IFAP- PPK syndrome? J Dermatol Case Rep 2011;5:14-6.
  6. Traboulsi E, Waked N, Megarbane H, Megarbane A: Ocular findings in chthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet 2004;25:153-6.
  7. Cursiefen C, Schlotzer-Schrehardt U, Holbach LM, Pfeiffer RA, Naumann GO: Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. Arch Ophthalmol 1999;117:681-4.
  8. Hopker LM, Ribeiro CG, Oliveira LM, Moreira AT: Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment. Arq Bras Oftalmol 2011;74:55-7.
  9. Bibas-Bonet H, Fauze R, Boente MC, Coronel AM, Asial R: IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. Pediatr Neurol 2001;24:228-31.
  10. Keyvani K, Paulus W, Traupe H, et al: Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations n a 33-year-old man. Am J Med Genet 1998;78:371-7.
  11. Boente MC, Bibas-Bonet H, Coronel AM, Asial RA: Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? Eur J Dermatol 2000;10:98-102.
  12. Konig A, Happle R: Linear lesions reflecting