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Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.

The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.

Abnormalities, Multiple↗

Ichthyosis 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 to the already known features of the syndrome the patient also developed bilateral cataract. Electron microscopy examination of the skin showed partial disruption of the intercellular bridges, spongiotic changes and decrease in the number and size of desmosomes supporting the notion that IFAP may be a cell-to-cell adhesion disorder.

Abnormalities, Multiple↗

Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

PURPOSE: To report the ocular findings in two siblings with IFAP and their mother and to review the natural course of the keratopathy of this disease. METHODS: Clinical ophthalmological examination of all patients and fundus photography of the carrier mother were performed. RESULTS: Both affected male children had severe photophobia, total superficial and deep corneal vascularization, and reduction of vision to counting fingers.The mother had tortuous retinal vessels. CONCLUSIONS: Males with IFAP have an inexorable progression of corneal vascularization and loss of vision. Retinal vascular tortuosity may be another clinical sign of carrier status in females.

Abnormalities, Multiple↗

Tryptophan depletion increases nausea, headache and photophobia in migraine sufferers.

Sensitivity to light was investigated 5 and 8 h after consumption of an amino acid drink which contained L-tryptophan (balanced amino acid condition: 19 controls and 22 migraine sufferers) or which produced a short-term reduction in brain serotonin synthesis by omitting L-tryptophan (tryptophan depletion condition: 16 controls and 16 migraine sufferers). Migraine sufferers reported more intense nausea, headache, glare- and light-induced pain than controls. In addition, glare- and light-induced pain were greater in the tryptophan depletion condition than in the balanced amino acid condition, in both migraine sufferers and controls. Eight hours after the amino acid drink, after participants had completed tests of pain sensitivity and motion sickness provocation, tryptophan depletion augmented headache in migraine sufferers and aggravated nausea in migraine sufferers and controls. These findings suggest that a reduction in brain synthesis of serotonin intensifies photophobia and other migrainous symptoms and thus might contribute to the pathogenesis of migraine.

Adolescent↗

Spatial properties of photophobia.

PURPOSE: To determine the spatial properties of stimuli that elicit photophobia (PP) in normal subjects: Does PP exhibit spatial summation? Are different parafoveal quadrants (superior, inferior, temporal, and nasal) of the retina differentially sensitive in PP? What is the relationship between PP sensitivity and retinal eccentricity? What is the relationship between the spatial properties of PP and the spatial distribution of macular pigment (MP)? METHODS: A Maxwellian-view optical system with a xenon light source was used to present the stimuli. Four normal subjects viewed stimuli of various sizes, retinal locations, and one of two chromatic contents: xenon-white and a broadband orange. The intensity of the test stimulus was increased between trials until the PP threshold was reached. The squinting response corresponding to PP was assessed by electromyography and used as an objective criterion of PP. Three parameters were examined: stimulus size, parafoveal retinal locus (superior, inferior, temporal, and nasal), and retinal eccentricity (extending into the perifovea). Spatial profiles of MP were measured psychophysically using heterochromatic flicker photometry (HFP). RESULTS: Spatial summation for PP was found essentially to adhere to Piper's law (radiance proportional to square root of stimulus area). The PP response was greater to centrally than peripherally viewed targets. In this regard, MP acted as a spatially integrated filter in the attenuation of PP. CONCLUSIONS: The degree of spatial summation found for PP indicates that an increase of 1.0 log unit in field area results in an approximately 0.57-log-unit decrease in the radiance required to elicit PP. PP appears to serve the function of retinal photoprotection.

Adult↗

Importance of magnesium depletion with hypofunction of the biological clock in the pathophysiology of headhaches with photophobia, sudden infant death and some clinical forms of multiple sclerosis.

Mg depletion is a type of Mg deficit due to a dysregulation of the Mg status. It cannot be corrected through nutritional supplementation only, but requires the most specific correction of the dysregulating mechanism. Among those, Biological Clock (BC) dysrhythmias are to be considered. The aim of this study is to analyze the clinical forms of Mg depletion with hypofunction of the Biological Clock (hBC). hBC may be due to either Primary disorders of BC [Suprachiasmatic Nuclei (SCN) and pineal gland (PG)] or Secondary with homeostatic response [reactive Photophobia (Pphi] to light neurostimulating effects [Nervous Hyper Excitability (NHE)]. The symptomatology is mainly diurnal and observed during fair weather (Spring,Summer). The elective marker of hBC is represented by a decrease in melatonin and in its metabolites in various fluids. The clinical forms of NHE due to Mg depletion with hBC are central and peripheral. The central forms associate anxiety, headaches and dyssomnia. The peripheral manifestations are neuromuscular: photosensitive epilepsia mainly. Three chronopathological forms of Mg depletion with hBC have been highlighted: 1. Headaches with Pphi: mainly migraine; 2. Sudden Infant Death Syndrome (SIDS); 3. Multiple Sclerosis (MS).- Headaches with Pphi, migraine particularly. These cephalalgias are diurnal with Pphi and are aggravated during the fair seasons (particularly during midnight sun-summer). Migraine is their typical form with its dishabituation to visual stimuli and its occipital cortex hyperexcitability. Comorbidity with anxiety is frequent. In 2/3 of the cases, it appears first.- SIDS might be linked to an impaired maturation of both photoendocrine system and brown adipose tissue. MS may be associated with primary disorders of BC Clinical forms of Mg depletion with hBC in MS present diurnal exacerbations and relapses during fair seasons. They have been underestimated because they disagree with the dogma of the << latitude gradient >>, presently questioned. Comorbidities with anxiety and migraine are frequent.hBC may be treated by using darkness therapy with a balanced Mg status. Absolute light deprivation should only be used only in acute indications and is time-limited. Partial substitutive therapy and chromatotherapy have not been validated yet and are still uncertain.

Biological Clocks↗

Prolonged electro-retinal response suppression (PERRS) in patients with stationary subnormal visual acuity and photophobia.

Neural adaptation to light stimulation in the dark-adapted retina can be demonstrated by double-flash electroretinography. The first flash is a conditioning flash, the second flash is the test flash. Interstimulus intervals are in the range of 0.2 to 30 seconds. Suppression of the response to the test flash is assumed not to be related to photopigment regeneration, as in normal human subjects the recovery after strong conditioning flashes is completed in about 2 seconds. In this paper we demonstrate the results of double-flash electroretinography on four patients, two of whom are brother and sister. Each of them showed a five- to ten-fold prolonged suppression time compared to normal measurements. Clinical aspects of all the patients were a stationary, though fluctuating, subnormal visual acuity of about 0.5, some photophobia, and difficulties in adaptation to changes in luminance levels. We assume that the PERRS indicates changes in the restorative reactions to phototransduction in the photoreceptors, or in the neural transmission mechanism, either in the rod-driven lateral inhibitory neural processes or in the cone-driven rod inhibitory processes, caused by a cone dysfunction.

Adult↗

Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome.

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 infections and transient nail dystrophy observed in our patient are non-obligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.

Alopecia↗

Intense photophobia caused by Arthrographis kalrae in a contact lens-wearing patient.

PURPOSE: To report a case of Arthrographis kalrae keratitis and to note that its clinical manifestation resembles Acanthamoeba corneal infection. METHODS: Case report. RESULTS: The patient's keratitis was caused by A kalrae, a very rare soil fungus. CONCLUSIONS: Arthrographis kalrae can cause a keratitis that manifests with severe photophobia and a slowly progressive corneal infiltrate whose symptoms can mimic Acanthamoeba. Our patient most likely acquired the fungus from exposure to soil and not from her contact lenses.

Administration, Oral↗

Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.

Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease.

Amino Acid Metabolism, Inborn Errors↗

Comparison of the effectiveness of 4 anti-inflammatory drops in relieving photophobia after pupil dilation.

PURPOSE: To compare the relative effectiveness of diclofenac, flurbiprofen, ketorolac, and prednisolone acetate in relieving photophobia after pupil dilation for fundus examination. SETTING: Eye, Ear, Nose, and Throat Hospital, New Orleans, Louisiana, USA. METHODS: This prospective, blind, placebo-controlled study comprised 105 patients randomly assigned to 1 of 10 treatment groups. Five minutes after instillation of dilating drops, each patient received drops of different test medications in the right and left eyes. Light sensitivity and pupil measurement tests were performed over 2 hours after the pharmacological mydriasis. After photostimulation, patients were asked to rate their photosensitivity on numerical and analog scales and to indicate a filter value required to alleviate right-induced discomfort. Test results were analyzed to detect differences among the pain levels associated with each treatment. RESULTS: There were no significant differences between the placebo and any active treatment drug at any time during the study. CONCLUSION: These findings suggest that mediators other than prostaglandins may have a role in photosensitivity or that increased postmydriatic photosensitivity is a result of higher light levels entering the eye through the dilated pupil.

Adolescent↗

Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.

Early childhood deafness, congenital non-bullous ichthyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hypotrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia were the symptoms observed in the 19-year-old girl described in this paper. The literature comprises reports on 8 patients with this syndrome, which McKusick (1975) listed as no. 24215.

Adolescent↗

Painful stimulation of the forehead increases photophobia in migraine sufferers.

Thresholds for visual and auditory discomfort were investigated in 51 migraine sufferers and 27 controls of similar age and sex distribution who rarely suffered from headache. Tests in migraine sufferers were carried out during the headache-free interval. Discomfort thresholds were measured before and during painful stimulation of the forehead with ice. The visual discomfort threshold was lower in migraine sufferers than in controls, and decreased further during painful stimulation of the forehead. In contrast, the auditory discomfort threshold was similar in migraine sufferers and controls, and did not decrease during painful stimulation of the forehead. These findings suggest that trigeminal discharge contributes to photophobia but not phonophobia in migraine sufferers.

Adult↗

Anticephalgic photoprotective premedicated mask. A report of a successful double-blind placebo-controlled study of a new treatment for headaches with associated frontalis pain and photophobia.

This study was performed to determine the efficacy of an anticephalgic photoprotective premedicated mask in the treatment of migraine and/or tension-type headaches. There were 54 patients. They were given masks and numbered bottles of topical medication containing either salicin or placebo. The patients were instructed to apply the medication to their frontalis region in the event they should suffer a headache, apply a photoprotective mask, and lie down. Furthermore, they were instructed to take their usual oral or parenteral medications, if required, for relief of the headache. They subsequently filled out forms rating the degree of relief which they attributed to the topical medications and the masks using a 0 to 10 scale. They were also simply asked if this form of treatment helped or not. Seven of the 20 patients receiving placebo stated the medication and mask helped. The placebo group rated the treatment an average of 4.31 on a 0 to 10 scale. Twenty-eight of 34 patients receiving salicin stated it was effective. The salicin group rated it 7.42 on a 0 to 10 scale (P < 0.001). The majority of the salicin patients stated the duration of their headaches was significantly reduced, as was their need for analgesic and/or narcotic medications. This study demonstrates a significant difference between placebo and salicin in association with the photoprotective mask in treating migraines and/or tension-type headaches with associated frontalis pain and photophobia.

Administration, Topical↗

Sarcoidosis: a unique presentation of dysphagia, myopathy, and photophobia.

We report the case of a patient who presented with symptoms of dysphagia, muscle weakness, and photophobia. The diagnosis of sarcoidosis was made by the histologic evidence of widespread noncaseating epithelioid cell granulomas in more than one organ (anterior mediastinal node and right quadriceps muscle). The disease was proven to be active by elevated angiotensin-converting enzyme (ACE) level and gallium-67 imaging. Esophageal dysfunction was demonstrated by barium swallow and manometric study. A review of the literature on sarcoidosis involving the esophagus and the muscular system is presented. Dysphagia and acute symptomatic myopathy are rare presentations of sarcoidosis. The combination of symptoms is unique, and clearly demonstrates the protean multisystemic nature of sarcoidosis. Patients presenting with dysphagia and myopathy should be investigated for sarcoid granulomas in these organs for appropriate treatment.

Adult↗