1/43. 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 = 1keywords = keratitis (Clic here for more details about this article) |
2/43. Auditory manifestations of keratitis-ichthyosis-deafness (KID) syndrome.OBJECTIVE: Evaluation of the auditory manifestations of keratitis-ichthyosis-deafness (KID) syndrome, a rare genodermatosis characterized by follicular hyperkeratosis, vascularizing keratitis, and congenital hearing loss. STUDY DESIGN: Five individuals with sporadic KID syndrome were evaluated in the outpatient audiology clinic at the Warren Grant Magnuson Clinical Center of the National Institutes of health. methods: Audiologic examinations included pure-tone audiometry, speech audiometry, and middle ear immittance testing. Auditory brainstem responses and otoacoustic emissions were analyzed in 2 subjects. RESULTS: Four subjects had prelingual, bilateral, profound sensorineural hearing loss, whereas the fifth subject had significant residual hearing that exhibited no progression on serial audiograms. All 5 subjects had a history of non-erosive keratosis obturans and cutaneous cysts in the external ear canals that prevented continuous use of ear molds. CONCLUSIONS: The sensorineural hearing loss in KID syndrome is generally prelingual and profound. This combination of auditory and cutaneous phenotypes is similar to those previously reported for KID syndrome. KID syndrome presents a difficult challenge for communication rehabilitation because keratitis may impair the perception of sign and spoken language, and the cutaneous manifestations routinely curtail use of external amplification devices.- - - - - - - - - - ranking = 0.33333333333333keywords = keratitis (Clic here for more details about this article) |
3/43. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies the gene in normal corneal function, hair growth, and carcinogenesis.- - - - - - - - - - ranking = 1keywords = keratitis (Clic here for more details about this article) |
4/43. Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of unknown etiology in which increased susceptibility to viral, bacterial, and mycotic infections has been observed. We report an infant with KID syndrome who died from overwhelming systemic infection. To date, investigations into the immune function of patients with this syndrome have not revealed a common underlying systemic immune deficit. However, the severity of infections and multiplicity of organisms observed in this syndrome suggest that a primary immunodeficiency is present in addition to an impaired cutaneous barrier to microorganisms.- - - - - - - - - - ranking = 0.66666666666667keywords = keratitis (Clic here for more details about this article) |
5/43. keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours.We report multiple occurrences of various kinds of tumours that originate from hair follicles in a patient diagnosed with KID (keratitis, ichthyosis, deafness) syndrome. These tumours are diagnosed as: (i) trichilemmal cysts in early lesions; (ii) proliferating trichilemmal tumours in moderate duration lesions; and (iii) malignant proliferating trichilemmal tumours in advanced lesions that are thought to progress from benign trichilemmal lesions. This three-step process raises the hypothesis of a multihit model that could account for the frequent development of tumours in KID patients.- - - - - - - - - - ranking = 0.16666666666667keywords = keratitis (Clic here for more details about this article) |
6/43. KID syndrome: response to acitretin.KID syndrome is rare. We report a 17-year-old girl who presented with universally ichthyotic red hue on the face, trunk, and extremities along with deafness and keratitis since childhood. She was diagnosed with KID syndrome. Treatment with acitretin cleared the hyperkeratotic ichthyotic lesions with little effect on the cornea or hearing. acitretin seems to be a promising new treatment in KID syndrome.- - - - - - - - - - ranking = 0.16666666666667keywords = keratitis (Clic here for more details about this article) |
7/43. keratitis, ichthyosis, and deafness (KID) syndrome.An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.- - - - - - - - - - ranking = 0.33333333333333keywords = keratitis (Clic here for more details about this article) |
8/43. Atypical ichthyosiform erythrodernam deafness and keratitis. A report of two cases.Two patients with ichthyosiform erythroderma of the same unusual but characteristic distribution are described. Both patients were born with perceptive deafness and developed severe vascularizing keratitis in early childhood. There is no family history of the disorder in either case. This syndrome is discussed in relation to previous reports of atypical ichthyosiform erythroderma associated with deafness.- - - - - - - - - - ranking = 0.83333333333333keywords = keratitis (Clic here for more details about this article) |
9/43. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.BACKGROUND: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. OBJECTIVES: To define the GJB2 mutations in three Japanese patients with KID syndrome. methods: Genomic dna was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and dna-based diagnosis. RESULTS: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. CONCLUSIONS: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.- - - - - - - - - - ranking = 0.83333333333333keywords = keratitis (Clic here for more details about this article) |
10/43. Marked hyperkeratosis of the soles in keratitis-ichthyosis-deafness syndrome: treatment with hydrocolloid dressing.keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder that exhibits marked hyperkeratosis of the skin. We successfully treated cutaneous lesions on the soles of a patient with KID syndrome using hydrocolloid dressing.- - - - - - - - - - ranking = 0.66666666666667keywords = keratitis (Clic here for more details about this article) |
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