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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 bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes.

Abnormalities, Multiple↗

Ichthyosis follicularis with alopecia and photophobia in a mother and daughter.

A mother and daughter having ichthyosis follicularis with alopecia and photophobia (IFAP) are reported, with histopathological and electron microscopic findings. We have followed the clinical course of the mother for 26 years since she was 5 years old, and the daughter since birth. They have had almost all the classical and some of the minor symptoms of IFAP, including severe photophobia, extensive non-inflammatory follicular hyperkeratosis, generalized non-scarring alopecia, hyperkeratosis of the extensor aspect of the four extremities, nail deformity and recurrent cheilitis. In addition, their facial appearance greatly resembles that of previously reported patients. A consistent feature in the mother was florid keratotic inflammatory eruptions on the genital region during each of her pregnancies, which rapidly improved after the delivery. Skin biopsy of the genital lesion showed marked acanthosis with dyskeratosis and spongiotic changes. The electron microscopic examination of diseased skin showed damaged desmosomes with spongiosis. No obvious changes were found in normal appearing skin.

Adult↗

Motion sickness and migraine: optokinetic stimulation increases scalp tenderness, pain sensitivity in the fingers and photophobia.

The aim of this study was to determine whether scalp tenderness and photophobia, two well-recognized symptoms of migraine, develop during the motion sickness induced by optokinetic stimulation. To investigate whether motion sickness has a general influence on pain perception, pain was also assessed in the fingertips. After optokinetic stimulation, nausea increased more and headache persisted longer in 21 migraine sufferers than in 15 non-headache controls. Scalp tenderness increased during optokinetic stimulation in nauseated subjects, and pain in the fingertips increased more and photophobia persisted longer in migraine sufferers than controls. These findings suggest that the disturbance responsible for nausea also sensitizes trigeminal nociceptive neurones or releases inhibitory controls on their discharge. A low nausea threshold and a propensity for sensitization to develop rapidly in nociceptive pathways may increase susceptibility to migraine.

Adult↗

Photophobia in a patient with high indinavir plasma concentrations.

An HIV-infected male patient experienced photophobia after a change in dosing regimen that resulted in substantially higher indinavir plasma levels as compared with a reference population. High indinavir levels were suspected to be the cause of photophobia in this patient.

Adult↗

Contact lens management of aniseikonia and photophobia induced by trauma.

PURPOSE: To describe a case of a contact lens fitting to relieve aniseikonia and photophobia resulting from trauma. METHODS: A 61-year-old man suffered a blunt injury to his left eye resulting in glaucoma and a traumatic cataract with a fixed pupil and iris defects. A vitrectomy, lensectomy, and iris repair were performed leaving him with significant anisometropia. RESULTS: The patient was fitted with a prosthetic contact lens. CONCLUSIONS: Contact lenses can provide significant visual improvement in cases of aniseikonia and photophobia.

Aniseikonia↗

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin.

We describe a 3-year-old male patient with the ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome, who developed cutaneous and ocular involvement in infancy. In addition, he had growth retardation and borderline intelligence; no other systemic involvement was found on detailed investigation. A moderate response to acitretin therapy (1 mg/kg) administered for 6 months was observed, with improvement in cutaneous features and corneal erosions and no change in alopecia or photophobia.

Abnormalities, Multiple↗

Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome.

A 12-year-old boy born of a nonconsanguineous marriage presented with dry rough skin and photophobia since birth. His growth and developmental milestones were normal and there was no history of any neurological problem, hearing deficit or scarring around the hair follicles. Cutaneous examination revealed diffuse thinning of scalp hair with loss of eyebrows and eyelashes and a sandpapery texture of the skin all over the body, suggestive of ichthyosis follicularis with alopecia and photophobia syndrome.

Alopecia↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

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 seizures began during or after the first year of age and were associated with progressive impairment of motor skills and mental abilities. He died at 33 years of age. Neuropathological findings showed an unusual deformation of the temporal lobes and olivocerebellar atrophy. Cytogenetic and molecular studies did not uncover deletions in either Xp22.2 to 3 or in Xq27.3 to qter.

Abnormalities, Multiple↗

Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).

A diagnosis of IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome was established in a 1-year-old boy with congenital hairlessness, generalized ichthyotic skin changes with follicular hyperkeratoses, and photophobia. IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been delineated. A 2-year-old sister had atrophoderma and ichthyotic skin lesions arranged in a linear pattern and a large noncicatrical bald patch on her scalp. Similarly, the mother had linear lesions of scaling and atrophy as well as circumscribed hairless areas involving the scalp, the axillary region, and the lower legs. Sweat testing by means of iodine starch-reaction visualized hypohidrotic linear lesions corresponding to the areas of hyperkeratosis and atrophy. In both mother and daughter the lesions followed the lines of Blaschko, whereas the boy was diffusely affected. Family history showed that the boy's maternal uncle who had died at age 1 year was likewise affected with the same disorder. Moreover, the maternal grandmother had reportedly bald patches on her scalp and very dry skin. This is the first report to document linear skin lesions visualizing lyonization in women heterozygous for IFAP syndrome.

Abnormalities, Multiple↗

Quantitative evaluation of photophobia and phonophobia in cluster headache.

In order to evaluate photophobia and phonophobia in cluster headache (CH), light and sound-induced discomfort and pain thresholds were measured quantitatively in 50 patients and 50 sex-matched and age-matched headache-free controls. During bout (i.e., during the active period with attacks), CH patients were more sensitive to light and sound than controls (p < 0.001). Outside bout they did not differ significantly from controls except for binaural stimulation. Patients were more photophobic and phonophobic during bout than in the remission period (p < or = 0.05). However, for those tested during bout, the sensitivity to light and sound was not related to the presence of pain during test, usual pain intensity, or pain laterality. In response to a questionnaire about their sensitivity, a significantly higher proportion of patients considered themselves sensitive during bout than outside (91% vs 46% for light [chi 2 = 5.9, p < 0.05] and 89% vs 49% for sound [chi 2 = 4.7, p < 0.05]). These results indicate that photophobia and phonophobia are important accompanying phenomena of cluster bouts.

Adult↗

Photophobia and phonophobia in tension-type and cervicogenic headache.

Light and sound-induced discomfort and pain thresholds were measured in 26 patients with cervicogenic headache, in 40 patients with tension-type headache, and in 100 headache-free controls. Neither headache group was significantly different as to photophobia and phonophobia, but both were significantly more sensitive to light and sound than controls (p<0.0001), even when patients were tested in the headache-free period (p<0.05). Episodic and chronic tension-type headache had similar photo- and phonophobia thresholds (p> or =0.7). Tension-type headache patients were more photo- and phonophobic during headache than outside attack (p<0.05), but this was not true for cervicogenic headache (p> or =0.56). In cervicogenic headache patients, photophobia (p<0.05) but not phonophobia (p=0.28) was greater on the symptomatic side than on the non-symptomatic side.

Adult↗

Monocular photophobia.

Uniocular eye closure in bright daylight has been considered as evidence of a binocular vision anomaly. Two groups of patients with various binocular vision anomalies were studied and compared. The control group did not manifest uniocular or binocular photophobia while the experimental group admitted frequent eye closure. The variables studied included anisometropia, refractive error, suppression, amblyopia, heterophoria and strabismus. No relations were observed between academic achievement and anomalies of binocular vision utilizing three analytical methods. Monocular photophobia was not associated with anomalous binocular vision.

Adolescent↗

Binocularity and photophobia in intermittent exotropia.

The relationship between photophobia and binocular function in intermittent exotropia was examined in 42 subjects (21 patients and 21 controls). In all subjects fusional amplitude and strength of binocular sensory status were tested before and during exposure to bright light. An explanation of photophobia in intermittent exotropia was suggested as impairment in binocular cooperation, since the indicators of binocular function were significantly altered in the patients, particularly during light exposure.

Adolescent↗

Photophobia and lithium.

CLINICAL PICTURE: We report the case of a 45 year old woman who developed photophobia after 6 months on lithium at non-toxic levels. TREATMENT AND OUTCOME: Lithium was reintroduced twice and on both occasions this side-effect reoccurred within days. CONCLUSIONS: Photophobia has only been described previously as a symptom of lithium intoxication.

Antimanic Agents↗

Photophobia, epiphora, and torticollis: a masquerade syndrome.

Three young children presented with photophobia, epiphora, and torticollis as the initial manifestation of a posterior fossa tumor. In each case there was a delay in treatment due to the presumptive diagnosis of a local ocular inflammatory condition. We recommend that children with unexplained photophobia, epiphora, and torticollis undergo an imaging technique to evaluate the posterior fossa.

Astrocytoma↗

Ichthyosis follicularis with alopecia and photophobia.

We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.

Alopecia↗

A new treatment for photophobia in posttraumatic aniridia: a case report.

PURPOSE: Using staining pigments with which we had gained experience in dermatography (medical tattooing) treatments of leucoma corneae, a new approach was developed to create an artificial iris-like staining at the mid-stromal level of the cornea to treat photophobia in a patient with posttraumatic aniridia. METHODS: After a central 4-mm half-depth trephination, a lamellar dissection of the corneal stroma toward the limbus was performed. A combination of colored pigments was introduced into this midstromal space, until a light blue artificial iris (to match the contralateral eye) with adequate blocking of light was created. RESULTS: A stable artificial iris was created in the mid-stromal level of the cornea. CONCLUSION: Dermatography pigments are stable in the corneal stroma and are useful to treat photophobia in aniridia following trauma.

Aniridia↗

The wavelength of light causing photophobia in migraine and tension-type headache between attacks.

OBJECTIVE: To ascertain the wavelength of light that patients with migraine and tension-type headache find uncomfortable between attacks. BACKGROUND: Photophobia is an abnormal perceptual sensitivity to light experienced by most patients with headache during and, also, between attacks. METHODS: We examined the discomfort threshold to light of low, medium, and high wavelengths in a group of patients with migraine (n=21), patients with tension-type headache (n=19), and healthy controls (n=21). RESULTS: The results indicate that the migraine group had significantly lower discomfort thresholds at the low (P=.001) and high (P=.031) wavelengths compared with both the tension-type headache and control groups; the latter two groups had similar average discomfort levels at these two wavelengths. With the medium wavelength, the control group had significantly higher discomfort thresholds than the migraine (P=.002) and tension-type headache (P=.031) groups; the latter two groups had similar discomfort levels at this wavelength. With unfiltered (white) light, the migraine group had the lowest discomfort threshold and the control group the highest (P=.026), whereas the tension-type headache group had an intermediate discomfort threshold. CONCLUSIONS: There were significant differences between migraineurs, patients with tension-type headache, and healthy controls in the wavelengths that are uncomfortable between attacks.

Adult↗