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

Höpker, Luisa Moreira; Ribeiro, Christie Graf; Oliveira, Luciane Moreira; Moreira, Ana Tereza Ramos

doi:10.1590/s0004-27492011000100013

Cited by 13 publications

(13 citation statements)

References 9 publications

(19 reference statements)

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“…Corneal scarring and erosions with corneal vascularization can also be seen in ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome . Acitretin therapy may result in a modest improvement in corneal erosions.…”

Section: Ocular Abnormalities Associated With Ichthyosismentioning

confidence: 99%

Complications of ichthyosis beyond the skin

et al. 2013

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Although ichthyoses are noted for their skin features, like many dermatologic conditions, patients are often impacted in ways beyond the skin. Much has been described in recent years regarding quality of life and skin disorders. This is certainly the case for ichthyosis. For neonates or others with diffuse involvement of their skin, nutritional needs are often exceeding normal requirements. These can often result in growth abnormalities. Lastly, with specific subtypes of ichthyosis, compromise of tissues around the eyes and ears can be of concern to some patients. Certainly, some forms of ichthyosis are routinely complicated by such findings. It is important for practitioners caring for individuals with ichthyosis to have these issues in mind.

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Section: Ocular Abnormalities Associated With Ichthyosismentioning

confidence: 99%

Complications of ichthyosis beyond the skin

et al. 2013

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“…İFAF sendromlu erkeklerde ilerleyici korneal vaskülarizasyon nedeniyle görme kaybı gelişir. İFAF sendromunda bildirilen diğer göz bulguları punktat keratopati, atopik keratokonjonktival inflamasyon, katarakt, horizantal nistagmus, astigmatizm ve miyopidir [8][9][10] . Retinal damarlarda kıvrımlı görünüm ise kadın taşıyıcılarda bildirilmiştir 8 .…”

Section: Discussionunclassified

Retina dekolmanının eşlik ettiği iktiyozis folikülaris, alopesi ve fotofobi sendromlu bir olgu

Akay¹,

Parlak²,

Saral³

et al. 2014

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“…Currently, there is still no effective drug treatment for severe IFAP syndrome (IFAP/BRESHECK and IFAP/OS), whereas the symptoms of IFAP/KFSD are relatively milder and its long‐time prognosis is favourable. A positive response to systemic acitretin therapy with improvement in cutaneous features and corneal erosions has been noted in some patients; however, the long‐term disease outcome and the possible drug side effects are not clear. Regretfully, our patient refused the systemic acetritin therapy offered, and was lost to follow‐up soon afterwards.…”

Section: Reportmentioning

confidence: 99%

Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature

et al. 2016

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Keratosis follicularis spinulosa decalvans (KFSD) is an X-linked condition characterized by keratotic follicular papules and progressive alopecia, which is caused by mutations in the MBTPS2 gene. We carried out a genetic study on a child who was suspected clinically to have KFSD. Sanger sequencing was performed to detect mutations in the entire coding region of MBTPS2. A novel missense mutation (c.599C>T) was identified in the patient, confirming a diagnosis of KFSD. We reviewed related cases with MBTPS2 mutations for evidence of genotype-phenotype correlations.

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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

Cited by 13 publications

References 9 publications

Complications of ichthyosis beyond the skin

Complications of ichthyosis beyond the skin

Retina dekolmanının eşlik ettiği iktiyozis folikülaris, alopesi ve fotofobi sendromlu bir olgu

Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature

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