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Several hereditary human diseases are now known to be caused by distinct mutations in genes encoding various desmosome components. Although the effects of some of these mutant genes have been analysed by targeted disruption experiments in mouse models, little is known about the cell and tissue changes in affected human patients. To investigate the effects of heterozygous nonsense mutations in desmoplakin (Dp) and desmoglein (Dsg) 1 which cause the autosomal dominant disorder striate palmoplantar keratoderma (SPPK), focusing on changes in desmosome structure and composition and the associated keratin intermediate filament (KIF) network in palm skin, and in cultured keratinocytes generated from the same site. We analysed palm and nonpalm skin sections from four SPPK patients with Dp mutations and one patient with a Dsg1 mutation with respect to tissue and subcellular morphologies, and correlated the in vivo and in vitro findings. Using electron microscopy, we found abnormalities of desmosomes and cell–cell adhesion in the suprabasal layers in the epidermis from patients with both Dsg1- and Dp-associated SPPK. These changes were more advanced in skin from patients with Dp mutations. Both Dp and Dsg1 mutations were accompanied by significantly reduced numbers of desmosomes in the suprabasal layers, while decreased desmosome size was evident only in Dsg1-associated SPPK. Confocal microscopy analysis showed marked differences in the expression of keratins and of desmosome components, both between the two types of SPPK, and between SPPK and normal skin. The expression of keratins K5, K14 and K10 was reduced in Dsg1-associated SPPK skin, whereas perinuclear aggregation of keratin filaments was more evident in Dp-associated SPPK. In both types of SPPK upregulation of K16 was pronounced and involucrin labelling was abnormal. Mutations in Dp and Dsg1 genes causing SPPK may be associated with perturbations in epidermal differentiation accompanied by a marked disruption of several components of the epidermal scaffold including desmosomes and the KIF network. [ABSTRACT FROM AUTHOR]

Homozygous homocystinuria, the most common genetic disorder of transulphuration, is associated with elevated plasma concentrations of homocystine, homocysteine, multiple clinical abnormalities and life-threatening thromboembolism. Several instances of vascular aneurysms have also been documented. More recently, an association between premature occlusive vascular disease and the heterozygous state has been proposed. We now report an unusual case in whom multiple aneurysms were associated with heterozygous homocystinuria. [ABSTRACT FROM PUBLISHER]

The article looks at the modality of laparoscopic surgery in the treatment of acute appendicitis. The therapeutic outcomes favoring laparoscopic appendicectomy based on a study in 2002, included reductions in wound infection rate, postoperative pain on day 1, length of hospital stay, time to return to normal activity, time to return of bowel function, and overall cost. However, there was a greater however, a greater incidence of intra-abdominal abscess after laparoscopic resection.

This article discusses the case of a patient with acymptomalic petrified ears and a concomitant gastric carcinoma. Ossification of the auricular cartilage is a rare entity, which may in fact not be recognized even by those affected. Ossification of the ears generally occurs in patients over 50 years of age, although one reported case occurred in a 17 year-old Syrian boy and in most patients the condition is asymptomatic. In several cases, however, there may he bony deposits extending into the ear canal, and the patient may complain of external oralgia aggravated by lying on the ear.