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Results for “Keratoderma, Palmoplantar, Diffuse”

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At least 163 records · Page 9Linked to original sources
PubMed2005

Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas.

Envoplakin (EVPL) is a member of the desmosomal plaque proteins attached to desmosomal cadherin and keratin filaments. The EVPL gene has been mapped to the tylosis oesophageal cancer (TOC) locus on chromosome 17q25, where it has been demonstrated to be frequently deleted in both familial and sporadic forms of oesophageal squamous cell carcinoma (OSC). In this study, we examined EVPL gene mutations in 10 OSC cell lines and 20 sporadic OSCs using reverse transcription-polymerase chain reaction single-strand conformational analysis (RT-PCR SSCP) followed by direct sequencing. We observed one somatic mutation (GCG to ACG at codon 1104, Ala to Thr: 1/20, 5%) in the central rod domain and 5 intragenic polymorphic sites, where frequent loss of heterozygosity (LOH) (63%) was detected. No mutations were detected in the OSC cell lines. The rate of EVPL gene mutation was quite low in contrast to the frequency of LOH on the TOC locus in sporadic OSCs, and the high incidence of oesophageal cancer development in tylosis families. Our results suggest that EVPL might not be the target gene responsible for OSC, despite its strong candidacy in terms of character and localization.

Alleles↗
PubMed1992

Isolated cases of palmoplantar keratoderma, Unna-Thost type.

A study on the prevalence of hereditary palmoplantar keratoderma, Unna-Thost type, was carried out in Croatia. Altogether 205 cases were verified, and of these forty-eight were chosen for further studies. Six isolated cases of hereditary palmoplantar keratoderma, Unna-Thost type, were found. The following theories were considered to explain such a phenomenon: spontaneous mutation, reduced gene expression, incomplete penetration of the gene, late onset of the disease, unknown biological father of the proband, and involvement of genes in addition to the autosomal dominant one.

Humans↗
PubMed1990

Pathohistological study on changes observed in the temporomandibular joint after experimental mutilation and shortening of the mandibular process with special reference to the changes under abnormal mandibular movement.

Abnormal mandibular movement continues to occur when fracture of the mandibular process has resulted in abnormal occlusion or abnormal mandibular movement. However, what changes might occur in the temporomandibular joint have not yet been fully clarified. In the present study, a fracture of the condylar process was experimentally induced in rats, and the resulting bone ends were wired in place. That is to say, the resulting displacement was fixed permanently. Histological studies were made on the changes of the temporomandibular joint at the postoperative third month in those rats which demonstrated abnormal occlusion and abnormal mandibular movement. Lack of uniformity of the fibrous layer and a shallowing of the mandibular fossa; proliferation of the fibrous connective tissue and reduction in size of the superior and inferior articular cavity; tylosis and irregularity in the articular disc; deformation and tylosis of the fibrous layer of the articular cartilage, tendency of the layer structure in the articular cartilage to disappear, and some effect on cartilaginous ossification in the condyle; flattening of the condyle and thinning of the layer structure in the condylar articular cartilage in the unaffected side of the mandibular joint. These changes were observed to be more marked as the displacement and occlusal abnormality of the mandible intensified, showing no morphological adaptation of the temporomandibular joint.

Animals↗
PubMed1990

An experimental study on the healing process after excision of the articular disc of the mandible--effect of short-term intermaxillary fixation.

In the present study, intermaxillary fixation for a period of 1 or 2 weeks after excision of the articular disc was administered to maturing rats. After removal of the fixation, the animals were allowed unrestricted mandibular movement. Histological observations were made at the postoperative 3rd month in those rats which demonstrated normal occlusion. As a result, it was found that the normal articular disc did not regenerate. However, in the articular cavity, both connective tissue and articular disc-like structures were found. The major changes in the mandibular fossa were tylosis of the outer fibrous layer of the fossa and an accompanying shallowing tendency. The major changes in the condyle were tylosis and morphological deformation of the fibrous layer of the parietal region. The deformation was mainly manifested by a fan-shaped hypertrophy. In the cases in which neither connective tissue nor articular disc-like structures were present in the articular cavity, changes in the mandibular fossa and condyle were remarkable. The appearance of the articular disc-like structure was more frequent in cases with 2-week intermaxillary fixation than in those with 1-week fixation.

Animals↗
PubMed1995

Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples.

Beckwith-Wiedemann syndrome, familial atypical multiple mole melanoma syndrome, and hereditary tylosis are bona fide genodermatoses with malignant potential. Each of these conditions is associated with an increased incidence of certain tumors: Wilms' tumor, adrenocortical carcinomas, pancreatoblastomas, and hepatoblastomas in Beckwith-Wiedemann syndrome; intraocular malignant melanoma, pancreatic carcinoma, and noncolorectal gastrointestinal cancers in familial atypical multiple mole melanoma syndrome; and squamous cell carcinoma of the esophagus in hereditary tylosis. Other cancer-related genodermatoses are Birt-Hogg-Dube syndrome (associated with medullary carcinoma of the thyroid and renal cell carcinoma) and its variant, Hornstein-Knickenberg syndrome (associated with colon carcinoma). Kidney tumors (Wilms' tumor and malignant rhabdoid tumor), leukemias (acute myelogenous and acute myelomonocytic), retinoblastoma, and paratesticular rhabdomyosarcoma have been reported recently in children with another genodermatosis-incontinentia pigmenti. Supernumerary nipples (polythelia) may be sporadic or familial in occurrence; their presence has been associated with an increased incidence of renal adenocarcinoma, testicular cancer, prostate cancer, and urinary bladder carcinoma. The general characteristics, mucosal and skin manifestations, and noncutaneous features of all these conditions are reviewed. Also, the associated malignancies of these genodermatoses and other conditions that are characterized by dermatologic manifestations and may be either familial or secondary to an inherited gene defect are summarized.

Adult↗
PubMedDate not supplied

[Osteopoikilosis--skin and joint manifestations].

Osteopoikilosis (Osteopathia condensans disseminata) is a rare and usually asymptomatic sclerosing bone dysplasia of unknown origin. Familial clustering suggests a dominant inheritance. The observation of a 47-year-old woman lead to differential diagnostic considerations in view of the literature on about 350 cases. For 2 years the patient has been complaining about pain and stiffness of both hands with swelling of the fingers. Additionally, she remarked about bilateral paresthesias corresponding to the sensory innervation of the median nerve. Clinical examination revealed a sensory carpal tunnel syndrome and mild synovitis of the proximal interphalangeal joints with skin induration and limited flexion of the fingers. In addition, some finger and toe nails showed pitting and most fingers had scar-like linear skin alterations. Radiologic findings showed symmetric, well-defined, homogeneous sclerosing areas in spongy bone. The combination of symmetrical sclerosing bone densities, hereditary character, and associated skin and joint manifestations suggests the existence of a general connective tissue disease.

Bone and Bones↗
PubMed1993

[Olmsted syndrome. Successful therapy by treatment with etretinate].

A 36-year-old North American patient has been suffering from Olmsted syndrome since early childhood. This rare inborn error of keratinization consists in pronounced, multilating keratoderma of palms and soles and associated periorificial keratoses. The patient has now been treated with etretinate for more than 6 years, resulting in a marked reduction of hyperkeratoses. Electron microscopic investigation of skin biopsies taken before and during therapy have confirmed the significant clinical improvement. Even though this retinoic acid derivative, a powerful regulating agent with a de-differentiating effect, cannot cure the basic defect, the marked hyperproliferation of the epidermis is reduced, so that terminal differentiation is delayed and thereby normalized. At the same time, the synthesis of keratinization proteins, such as keratins and keratohyalin, which is suppressed before therapy, increases. The familial connective tissue disorder existing independently of Olmsted syndrome in this patient (perhaps a mild form of Ehlers-Danlos syndrome) is not influenced by the retinoid therapy.

Adult↗