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.
نویسندگان
چکیده
Ichthyosis follicular, alopecia, and photophobia (IFAP) syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, superficial and deep corneal vascularization and myopia. He was treated with artificial tears and punctal occlusion with small improvement of photophobia. After three months using systemic retinoid (Acitretina) and posterior amniotic membrane transplantation in the left eye, there was a significant improvement of photophobia, corneal erosions and neuropsychomotor development.
منابع مشابه
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bila...
متن کاملIchthyosis Follicularis, Alopecia, and Photophobia Syndrome
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare genetic, oculocutaneous disorder. So far, about forty patients have been reported worldwide. This disorder results from mutations in the membrane-bound transcription factor protease site 2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. We report this rare case of IF...
متن کاملIchthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plug...
متن کاملA rare case of ichthyosis follicularis, alopecia & photophobia syndrome
eyelashes (Fig. 1C) hyperkeratosis of lid margin with folliculosis, conjuctival congestion and follicular reaction. The child had alopecia (Fig. 1D). Corneal infiltration was present at the level of epithelium and sub-epithelium (Fig. 2). On the basis of above features, he was diagnosed of ichthyosis follicularis alopecia and photophobia (IFAP) syndrome1 that is caused by mutation in MBTPS2 gen...
متن کاملOcular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
Ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eye...
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ورودعنوان ژورنال:
- Arquivos brasileiros de oftalmologia
دوره 74 1 شماره
صفحات -
تاریخ انتشار 2011