1/14. Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/14. Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma.Olmsted syndrome is a rare disorder that consists of sharply marginated keratoderma of the palms and soles, constriction of digits and toes that may result in spontaneous amputation of the distal phalanges, hyperkeratotic plaques around the body orifices, onychodystrophy, and other less common cutaneous and extracutaneous anomalies. Although some patients had other affected family members, most cases of Olmsted syndrome seem to be of sporadic occurrence. We describe a patient with the characteristic features of Olmsted syndrome. The symptoms consisted of diffuse transgrediens palmoplantar keratoderma and keratotic plaques around the mouth and nose. Our patient also had the associated anomalies of hyperhidrosis of the palms and soles and congenital deaf-mutism. Histopathologic study of the keratoderma demonstrated epidermal hyperplasia with acanthosis, papillomatosis, and orthokeratotic hyperkeratosis.Immunohistochemical study showed more basal and suprabasal keratinocytes of the epidermis with immunoreactivity for Ki-67 marker when compared with the keratinocytes of the epidermis of the adjacent non-involved skin. These results support the notion that Olmsted syndrome is a hyperproliferative disorder of the epidermis.- - - - - - - - - - ranking = 3keywords = palm (Clic here for more details about this article) |
3/14. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/14. Congenital perceptive hearing loss and atopic dermatitis.Two brothers were suffering from perceptive hearing loss, atopic dermatitis and mild palmophantar keratoderma. There was a predisposition to atopic disease in the maternal family, and palmoplantar keratosis as a dominant trait in the paternal family. Atopoc dermatitis and palmoplantar keratoderma separately have been reported to co-exist with hearing loss, but a combination of all three has not so far been reported.- - - - - - - - - - ranking = 3keywords = palm (Clic here for more details about this article) |
5/14. Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: report of a family.A family is described in which knuckle pads, leukonychia, deafness, and keratosis palmoplantaris are present as a syndrome is several members. This is the second such family reported demonstrating that keratosis palmoplantaris is part of the syndrome. Inheritance pattern is probably autosomal dominant.- - - - - - - - - - ranking = 6keywords = palm (Clic here for more details about this article) |
6/14. 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 = 1keywords = palm (Clic here for more details about this article) |
7/14. Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness association.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
8/14. Gorham's disease of skull base and cervical spine--confusing picture in a two year old.The unusual presentation of Gorham's disease of skull base and cervical spine in a two-year-old female child with radiological signs mimicking those of raised intracranial pressure is discussed. The differential diagnosis consists of skull base tumours, meningitis, osteomyelitis of the base of skull, congenital hydrocephalaus and congenital syndromes involving the skull base. Pathologically it can be very difficult to differentiate it from lymphangioma of the bone. Difficulty in establishing the diagnosis is discussed along with failure of radiotherapy and palmidronate therapy to cause arrest of the disease process and failure of surgery to provide stabilisation. We describe the course of the disease in this child over the period of last eight years. To the best of our knowledge this is the youngest case of Gorham's described so far.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
9/14. Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity.A case of focal palmoplantar keratoderma with associated sensorineural deafness is reported. The palmoplantar keratoderma was sharply marginated by geometric borders, spared the plantar arch and was accompanied by marked hyperkeratosis of palmar flexural creases. This syndrome, consisting of a very particular type of palmoplantar keratoderma associated with sensorineural deafness, appears to be distinctive enough to be considered as a clinical entity.- - - - - - - - - - ranking = 8keywords = palm (Clic here for more details about this article) |
10/14. The KID-syndrome in finland. A report of four cases.We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
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