Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
نویسندگان
چکیده
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 bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes.
منابع مشابه
Ichthyosis 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 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 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 کاملIchthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings.
A rare congenital ectodermal disorder characterized by ichthyosis follicularis, alopecia and photophobia has been designated the acronym IFAP. An X-linked recessive mode of inheritance was initially proposed but a few recent reports in girls suggested genetic heterogeneity of this syndrome. We herein describe a 3-year-old girl with clinical and histological features typical of IFAP. In addition...
متن کاملIchthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment.
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...
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ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 124A 3 شماره
صفحات -
تاریخ انتشار 2004