1/38. 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 = ichthyosis (Clic here for more details about this article) |
2/38. KID syndrome associated with features of ichthyosis hystrix.keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder causing erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. ichthyosis hystrix is a rare cutaneous disease characterized by well-demarcated, spiky, verrucous, linear plaques that is believed to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We present a patient with the classic triad of KID syndrome with clinical and histologic features of ichthyosis hystrix. This case demonstrates that KID syndrome comprises a spectrum of ectodermal disorders which may include diseases such as hystrix ichthyosis and deafness (HID) syndrome.- - - - - - - - - - ranking = 1keywords = ichthyosis (Clic here for more details about this article) |
3/38. 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 = 0.85714285714286keywords = ichthyosis (Clic here for more details about this article) |
4/38. 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 = 0.71428571428571keywords = ichthyosis (Clic here for more details about this article) |
5/38. HID and KID syndromes are associated with the same connexin 26 mutation.BACKGROUND: keratitis-ichthyosis-deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas in addition to leading to profound sensory deafness and erythrokeratoderma. We recently demonstrated that KID can be caused by a specific missense mutation in connexin 26 (GJB2). Another syndrome, called hystrix-like ichthyosis-deafnesss (HID) syndrome, strongly resembles the KID syndrome. These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related. OBJECTIVE: To demonstrate by mutation analysis that HID and KID syndromes are genetically indistinguishable. methods: dna was extracted from paraffin-embedded tissue samples of the first HID syndrome patient described in the literature. Since the KID syndrome mutation abolishes an AspI restriction site, we were able to screen the patient's dna by polymerase chain reaction and subsequent restriction enzyme analysis. RESULTS: Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. This result was confirmed by direct dna sequencing. CONCLUSIONS: We show that KID and HID syndromes are identical at the molecular level and confirm the clinical impression that these syndromes are one and the same. That previous clinical reports made a distinction may be a consequence of sampling artefacts; alternatively, genetic background effects such as the presence of concurrent mutations in other skin-expressed genes may modify the phenotype.- - - - - - - - - - ranking = 0.28571428571429keywords = ichthyosis (Clic here for more details about this article) |
6/38. 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 = 0.71428571428571keywords = ichthyosis (Clic here for more details about this article) |
7/38. 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 = 0.85714285714286keywords = ichthyosis (Clic here for more details about this article) |
8/38. 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 = 0.71428571428571keywords = ichthyosis (Clic here for more details about this article) |
9/38. genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.connexins are integral membrane proteins forming aqueous gap junction channels that allow the diffusional exchange of ions and small metabolites between cells, thus coordinating metabolic activities in multicellular tissues. Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome. Missense mutations in the closely related Cx30 gene GJB6 underlie Clouston syndrome (autosomal dominant hidrotic ectodermal dysplasia). We report a 6-y-old boy with phenotypic characteristics of KID syndrome as well as atrichia. In contrast to other KID syndrome patients, molecular analysis of the connexin gene GJB2 did not disclose a pathogenic mutation, although the patient was homozygous for a common polymorphism (V27I) in the coding sequence of Cx26. Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). The presence of a pathogenic Cx30 mutation and the lack of a pathologic molecular change in Cx26 in this patient, whose clinical features predominantly resemble KID syndrome, suggest genetic heterogeneity of KID syndrome and underscore that mutations in Cx30, similar to those in Cx26 or Cx31, can cause different phenotypes. Based on our results, connexin gene mutations should be considered in patients presenting with congenital sensorineural hearing loss and disorders of cornification, and screening of several connexin genes with known cutaneous phenotype, such as those for Cx26, Cx30, Cx30.3, and Cx31, may be required.- - - - - - - - - - ranking = 0.14285714285714keywords = ichthyosis (Clic here for more details about this article) |
10/38. A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.Mutations in GJB2 (connexin26) are associated with skin disorders and deafness. The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). Here, we describe a patient suffering from a Clouston-syndrome-like phenotype of thin hair, deafness, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense mutation in GJB2. The heterozygous mutation in codon 42, AAC>AAG, changes asparagine to lysine (N14K). Interestingly, this asparagine is near two of the residues mutated in keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype. Instead, there is a clear phenotypic overlap with syndromes associated with connexin26 or 30 mutations. Our finding suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes is warranted and expand the spectrum of connexin26-associated disease.- - - - - - - - - - ranking = 0.14285714285714keywords = ichthyosis (Clic here for more details about this article) |
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