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Results for “Keratoderma, Palmoplantar, Diffuse”

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At least 109 records · Page 6Linked to original sources
PubMed1994

The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten).

The frequency of autosomal dominant inherited palmoplantar keratoderma (HPPK) in the northernmost county of Sweden (Norrbotten) is 0.55%. Histopathological examination of 91 biopsies from patients with the dominant form of HPPK revealed no case of epidermolytic PPK. This finding is in contrast to the results of a re-examination of descendants of the original family published by Thost which showed the characteristic features of epidermolytic PPK, and re-evaluation of biopsies from other families has shown that it is the most frequent type. The existence of PPK type Unna-Thost in relation to epidermolytic PPK and to HPPK of the northernmost county of Sweden will be discussed. At the same time a revision of designation of this type is proposed. A dermo-epidermal mononuclear cell infiltrate belongs to the classical description of PPK Unna-Thost. It was shown that this cell infiltrate occurs significantly more often in patients with HPPK and dermatophytosis. Relapsing vesicular eruptions along the hyperkeratotic border are a clinical sign of the severity of dermatophyte infections. Such spongiotic vesicles together with a mononuclear cell infiltrate should be considered as eczematous reaction to dermatophytosis.

Biopsy↗
PubMed2004

An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma.

Oesophageal cancer is one of the ten leading causes of cancer mortality worldwide. Earlier loss of heterozygosity (or allelic imbalance) studies have implicated regions on chromosomes 3p, 5q, 9p, 13q, 17p, 17q, and 18q in the development of sporadic oesophageal cancer and recent data have linked the familial tylosis with oesophageal cancer (TOC) gene-containing region on chromosome 17q25 with this cancer. We have studied allelic imbalance (AI) at microsatellite markers both closely linked to and distant from the TOC gene locus in 60 sporadic squamous cell oesophageal cancers from Iran and have investigated the most likely candidate gene by mutation analysis in these tumours. Forty-four out of these 60 samples (73%) show allelic imbalance at one or more loci within or adjacent to the TOC minimal region, while the highest incidence of AI was observed at the D17S2244 and D17S2246 loci (almost 70% AI in informative cases), correlating with the TOC minimal region. Analysis of the coding regions of a candidate gene in these tumours failed to show an equivalently high incidence of mutation, although two mutations and one polymorphism were observed. These data support and extend previous observations that the TOC region of chromosome 17q25 may be involved in the aetiology of the sporadic form of oesophageal cancer from a number of different geographical populations and suggest that the causative gene may be epigenetically silenced rather than mutated.

Adult↗
PubMed2000

Transgrediens et progrediens palmoplantar keratoderma (Greither's disease) with particular histopathologic findings.

We describe a patient with transgrediens et progrediens palmoplantar keratoderma (Greither's disease). Ten of the 25 members of this patient's family in six consecutive generations were affected by the disorder. The pedigree was consistent with an autosomal dominant inheritance pattern, with variable penetrance. The proband's physical examination showed typical signs of Greither's disease. The most striking findings were seen in histopathologic study and consisted of round, focal areas of orthohyperkeratosis located on delled areas of the epidermis. These histopathologic features were present in both the lesions of the palms and dorsum of the hands. We review the clinical manifestations and histopathologic findings of this particular variant of palmoplantar keratoderma and the differential diagnosis.

Biopsy, Needle↗
PubMedDate not supplied

Carcinoma of stomach in a patient with familial tylosis.

The association of tylosis with esophageal cancer has been extensively reported but association with gastric cancer is rare. We report a 55-year-old man with familial tylosis and carcinoma of the stomach for which radical gastrectomy was done. Repeat endoscopy 3 years later is normal.

Adenocarcinoma↗