photophobia/seizures

We report on the cognitive-behavioral treatment of a 12-year-old boy with photogenic partial seizures with secondary generalization who had developed phobic avoidant behavior toward all kinds of situations with potential photostimulation, leading to serious impairments of life quality. Based on a

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,

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

We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin

The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. We report on a man with congenital ichthyosis and alopecia with apparently normal development in early infancy. Photophobia and generalized myoclonicastatic

We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia and photophobia. Previous studies have identified five missense mutations in the membrane-bound transcription factor protease, site 2

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

A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The

OBJECTIVE Prior studies have given conflicting data concerning the association of benign rolandic epilepsy of childhood (BREC) and migraine but were limited by lack of sensitive, diagnostic criteria for childhood migraine. By using revised International Headache Society (IHS-R) criteria, we compared

Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM

OBJECTIVE To report an 8-year-old girl with bilateral progressive visual loss and photophobia secondary to stem cell deficiency as a result of multiple endocrine deficiency. METHODS A case report and review of medical literature. RESULTS The patient suffered from severe photophobia and decreased