1/10. 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.- - - - - - - - - - ranking = 1keywords = follicularis (Clic here for more details about this article) |
2/10. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?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 differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.- - - - - - - - - - ranking = 0.2keywords = follicularis (Clic here for more details about this article) |
3/10. IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.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, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.- - - - - - - - - - ranking = 0.4keywords = follicularis (Clic here for more details about this article) |
4/10. 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.- - - - - - - - - - ranking = 1keywords = follicularis (Clic here for more details about this article) |
5/10. 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.- - - - - - - - - - ranking = 1.2keywords = follicularis (Clic here for more details about this article) |
6/10. 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.- - - - - - - - - - ranking = 0.8keywords = follicularis (Clic here for more details about this article) |
7/10. 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.- - - - - - - - - - ranking = 1keywords = follicularis (Clic here for more details about this article) |
8/10. 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.- - - - - - - - - - ranking = 1keywords = follicularis (Clic here for more details about this article) |
9/10. ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity?A 23-year-old man was seen for dry, rough skin and alopecia present since birth. There was no history of impaired sweating, photophobia, or lacrimation. Examination revealed generalized cutaneous thorn-like projections with nonscarring alopecia, twenty-nail dystrophy, and palmoplantar keratoderma.- - - - - - - - - - ranking = 0.8keywords = follicularis (Clic here for more details about this article) |
10/10. 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.- - - - - - - - - - ranking = 1keywords = follicularis (Clic here for more details about this article) |
| | Next -> |