Cases reported "Keratoderma, Palmoplantar"

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1/30. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

    pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone. These earlier analyses employed an RT-PCR approach to avoid amplification of K16-like pseudogenes. Here, we have cloned the K16 gene (KRT16A) and two homologous pseudogenes (psiKRT16B and psiKRT16C), allowing development of a genomic mutation detection strategy based on a long-range PCR, which is specific for the functional K16 gene. We report a novel heterozygous 3 bp deletion mutation (388del3) in K16 in a sporadic case of PC-1. The mutation was detected in genomic dna and confirmed at the mRNA level by RT-PCR, showing that our genomic PCR system is reliable for K16 mutation detection. Using this system, we carried out the first prenatal diagnosis for PC-1 using CVS material, correctly predicting a normal fetus. This work will greatly improve K16 mutation analysis and allow predictive testing for PC-1 and the related phenotype of FNEPPK.
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ranking = 1
keywords = dysplasia
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2/30. costello syndrome with decreased glucose tolerance.

    We report a case of costello syndrome, which is an uncommon multisystemic condition with cutaneous manifestations on the palms and soles. In the literature there are 29 cases described, all the studies are published in the genetic literature with a few exceptions. We add a further case associated with impaired glucose tolerance. The diagnostic clinical signs are impressive, and highly characteristic. Cutaneous manifestations are: loose skin of the hands and feet "washer woman's hand", hyperkeratosis palmoplantaris, curly or sparse hair, acanthosis nigricans, papillomata nasi. Coarse, progeroid facial features with a bulbous nose, feeding difficulties in infancy, cardiac involvement with cardiomyopathy or conduction defect, and in our case impaired glucose tolerance also presented. Postnatal growth retardation, mental retardation, and a distinctive friendly personality is characteristic. Hyperextensible fingers with broad distal phalanges and joint contractures were observed, and peroneal hypertonicity required treatment by achilles tendon lengthening. The decreased glucose tolerance is interesting in the view of the acanthosis nigricans. No storage disease and no chromosomal abnormality were observed. Only in one case is a balanced translocation described in the literature.
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ranking = 0.59025645358498
keywords = cardiomyopathy
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3/30. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.

    Palmoplantar keratodermas are a group of heterogeneous diseases characterized by thickening, and marked hyperkeratosis, of the epidermis of the palms and soles. Palmoplantar keratodermas can be divided into four major classes: diffuse, focal, punctate, and palmoplantar ectodermal dysplasias. All forms are genetic diseases inherited as autosomal dominant disorders. We studied a patient exhibiting a localized thickening of the skin in parts of the right palm and the right sole, following Blaschko's lines, that does not fit into any classes already described. We sequenced the keratin 16 cDNA derived from skin biopsy material from affected and non affected palms. The keratin 16 cDNA sequence from lesional epidermis showed a 12 base pair deletion (309-320del), which deletes codons 104-107. The mutation is predicted to delete four amino acids, GGFA, from the V1 domain of the keratin 16 polypeptide, close to the 1A domain. Full-length keratin 16 cDNA sequence derived from the unaffected palm was completely normal, consistent with a postzygotic mutation as is suggested by the mosaicism observed. We defined this new clinical entity, "unilateral palmoplantar verrucous nevus", rather than localized or focal epidermolytic palmoplantar keratodermas, as the lesions are present only on one side of the body and follow Blaschko's lines. This study is a report of a mosaic mutation in keratin 16 and also the association of a mutation in the V1 domain of a type I keratin associated with a human disease.
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ranking = 1
keywords = dysplasia
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4/30. Implantable defibrillator therapy in Naxos disease.

    Naxos disease is a unique form of right ventricular cardiomyopathy with a high prevalence of malignant ventricular arrhythmias, including sudden cardiac death. As a hereditary systemic disease confined to a small island, it has been closely studied over the last 15 years. The implantation of an automatic defibrillator provides an alternative form of antiarrhythmic management to improve life expectancy in these high risk cardiac patients. We present the first two Naxos disease patients with malignant ventricular arrhythmias who had defibrillator implantation.
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ranking = 316.60257482559
keywords = right ventricular cardiomyopathy, ventricular cardiomyopathy, cardiomyopathy
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5/30. ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

    A 31-year-old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings suggest the diagnosis of Lelis syndrome, as described on the basis of seven unrelated cases. A review concerning this condition is also presented.
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ranking = 5
keywords = dysplasia
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6/30. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

    patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in north america. We describe a 1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal dysplasia syndromes were considered, but insensitivity to pain was suspected after a skeletal survey revealed an unrecognized skull fracture. Nerve conduction studies were normal, as was his response to subdermal histamine injection. sequence analysis of his NTRK1 gene revealed 2 mutations: 1 mutation is novel, while the other has been described previously in a patient of northern European descent. An antibody directed against NTRK1 revealed persistent expression in keratinocytes, consistent with the mutations in this patient. skin biopsy specimens revealed a lack of epidermal and sweat gland innervation. immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected.
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ranking = 1
keywords = dysplasia
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7/30. Eccrine syringofibroadenomatosis: a clinical and histologic study and review of the literature.

    A 56-year-old man had an 11-year history of a psoriasiform eruption of the palms, soles, and shins. An examination revealed well-demarcated patches and plaques of erythematous, fissured, and hyperkeratotic skin with focal erosions. There was no clinical evidence of ectodermal dysplasia. On histologic examination these lesions proved to be eccrine hamartomas that consisted of anastomosing cords and strands of cuboidal epithelial cells with well-formed ducts and a fibrovascular mucinous stroma. Eccrine ductal origin was indicated by histopathologic, histochemical, immunopathologic, and electron microscopic evaluation. These multiple palmoplantar eccrine hamartomas, unassociated with ectodermal dysplasia, represent a sporadic hamartomatous condition that is best designated as "eccrine syringofibroadenomatosis."
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ranking = 2
keywords = dysplasia
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8/30. Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.

    Hidrotic ectodermaldysplasia was found, to our knowledge, for the first time in a Chinese family in malaysia, and it affected 15 members in five generations. The disease, which is transmitted as a non-sex-linked autosomal dominant trait, presumably originated from southern china. All 15 members had the typical nail, hair, and skin lesions, and we observed three different types of nail defects. scalp alopeica was more extensive in the female members while keratoderma of the palms and soles was more notable in the male members. The nail and skin lesions also became severer with age. Except for the infectious eczematoid dermatitis present in the propositus, none had other skin or systemic disorders. All were relatively healthy and had normal life expectancies;
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ranking = 5
keywords = dysplasia
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9/30. Spinal myoclonus with dermal and retinal changes affected by myelitis.

    Intermittent, rhythmical myoclonus that had been present in the lower limbs of a 68-year-old man for more than 50 years was obviously increased in frequency during the period when the patients suffered from acute transverse myelitis. The same type of movements were readily induced by irrigation of the urinary bladder during the period of paraparesis. Removal of some possible inhibitory influences from a myoclonic focus in the lower spinal cord with resulting heightened excitability was thought to be the mechanism of these phenomena, although direct irritation of the myoclonic focus by the inflammatory process was also conceivable. The patient had keratosis palmoplantaris hereditaria and retinal pigment degeneration, suggesting the possibility of a congenital neuroectodermal dysplasia.
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ranking = 1
keywords = dysplasia
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10/30. Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.

    Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. This disease is a heart muscle disorder causing life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death. The pathological hallmark of the disease is the progressive replacement of myocardial cells by fat and fibrous tissue. It appears in families descending from the Hellenic island of Naxos. We presented a 13-year-old Turkish boy with Naxos disease associated with ventricular tachycardia because of its rarity, and reviewed the literature.
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ranking = 2513.6390807956
keywords = arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic, right ventricular cardiomyopathy, ventricular cardiomyopathy, arrhythmogenic right, cardiomyopathy
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