Punctate porokeratosis. A clinical variant of porokeratosis of Mibelli

Punctate porokeratosis is not usually recognized as a clinical form of porokeratosis of Mibelli. Two cases of punctate porokeratosis are presented. Other punctate lesions with similar clinical features which should be considered in the differential diagnosis are discussed.     

Ultrastructure of inborm errors of keratinization. VII. Porokeratosis Mibelli and disseminated superficial actinic porokeratosis

The cornoid lamella and the underlying epidermis were studied by electron microscopy on specimens biopsied from 2 patients with porokeratosis Mibelli and 1 patient with actinic porokeratosis. Findings on the two types of porokeratoses are essentially the same. The cornoid lamella was composed chiefly of extremely irregular dark cells and a few numbers of dyskeratotic cells. Both cells retained a nuclear remnant and many other degraded organelles. The epidermal cells just beneath the cornoid lamella simultaneously demonstrated productive and degenerative signs. Some of these epidermal cells underwent dyskeratosis and appeared as corps ronds-like bodies in the granular layer. Two contradictory phenomena should be attributed to the pathogenesis of cornoid lamella. In the cornoid lamella above the sweat pore microvilli-structures were found.     

Diagnostic value of 10 systematized and ultrasound-guided transrectal prostatic biopsies

OBJECTIVE: To study the improvement of prostatic cancer detection provided by ten strictly systematized transrectal prostatic biopsies. MATERIAL AND METHODS: This prospective study was conducted in 162 patients submitted to a series of 10 ultrasound-guided transrectal prostatic biopsies due to the presence of elevated PSA and/or an abnormality on digital rectal examination. Five biopsies were taken from different sites in each lobe: 2 biopsies were inserted between the 3 biopsies usually performed in the standard protocol, while maintaining the angle of entry of the needle recommended in this protocol. RESULTS: The complication rate was 1.85% with the 10-biopsy technique. Prostatic cancer was detected in 40.1% of the 162 patients. The percentage diagnostic improvement provided by the 10-biopsy protocol in the overall patient population was +3.1% compared to the standard protocol. The highest percentage diagnostic improvement was observed in the group of patients with PSA < or = 10 ng/ml (+4.9%) and in the group of patients with an ultrasound prostatic volume < or = 40 cc (+4%). CONCLUSION: The most marked diagnostic improvement appears to be related more to sampling of prostatic zones presenting a statistically increased risk of cancer (peripheral zone) than to the increased number of prostatic biopsies performed.     

Linear porokeratosis presenting as erosions in the newborn period

The classic appearance of porokeratosis is characterized by a hyperkeratotic annular rim that expands peripherally, leaving an atrophic center. Linear porokeratosis is a variant with collections of such lesions arranged in a linear fashion, usually corresponding to a dermatome or Blaschko's lines. Ulcerations have rarely been reported in patients with porokeratosis. We report an unusual case of linear porokeratosis at birth, with erosions and ulcerations of the face and lower extremity, that eluded diagnosis for nearly a year. Porokeratosis should be considered in the differential diagnosis of erosions in the newborn period.     

Disseminated superficial actinic porokeratosis. Analysis of an affected family

A family is analysed in which disseminated superficial actinic porokeratosis (DSAP) occurred in five members. All three children of one generation are affected. Clinical, histopathological and genetic aspects of DSAP are discussed. Disseminated superficial actinic porokeratosis appears to be a clinical variant of porokeratosis of Mibelli. Since DSAP is a genodermatosis inherited as an autosomal dominant it can occur in any geographical location; however excess sunlight can definitely exacerbate the condition.     

Ulcerative colitis and intestinal bleeding

Ulcerative colitis is a nonspecific inflammatory disease of large intestine. Its inflammation is limited to intestinal mucosa. The most essential symptom is hematochezia, bloody stool and intestinal bleeding. Differential diagnosis among diseases having intestinal bleeding is clinically important. These diseases include Crohn disease, ischemic colitis, intestinal Beh?et disease, Enterohemorrhagic E. coli including O157, antibiotics associated hemorrhagic colitis and so on. Drugs for the treatment of ulcerative colitis are sulphapyridine, 5-aminosalicylic acid, prednisolone, betamethasone and immunosuppressive drugs. Recently, leukocytapheresis and massive immunoglobulin 7S treatment are available for the treatment of ulcerative colitis.     

Ulcerative colitis: medical treatment

Ulcerative colitis is a chronic inflammatory disease of unknown etiology, affecting the mucosa of the rectum and a variable length of colon. There is no medical cure for this disease, however medical therapy offers comfort to the majority of patients and improves their lives. Medical therapy including newer drugs is here reviewed.     

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome

We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies or both have been reported in a number of syndromes associated with craniosynostosis, including Crouzon, Pfeiffer, Apert, and Beare-Stevenson syndromes. These syndromes are associated with mutations in the fibroblast growth factor receptor genes FGFR1, FGFR2, and FGFR3. They are inherited in an autosomal dominant fashion. In contrast, the cases we report do not carry any of the common FGFR mutations and the pedigree suggests autosomal or X linked recessive inheritance.     

Ulcerative colitis complicated by gastroduodenal lesions

The glycosylated multivalent three-domain Kunitz inhibitor TFPI is a natural inhibitor of tissue factor-FVIIa complex in the presence of FXa. TFPI has an experimental antithrombotic capacity indistinguishable from LMWH in a prophylactic dose, regardless of glycosylation and of the third domain. An inherited equilibrium between antithrombosis and haemorrhage exists. The aim of the study was to evaluate whether a two-domain non-glycosylated TFPI (117QTFPI1-161) has a bleeding potential in a rat gastric mucosa model. Groups; placebo, LMWH (tinzaparin) 60 and 250 anti-Xa IU/kg and 117 QTFPI1-161 1.0 and 10.0 mg/kg, given i.v. (bolus injection), randomised double dummy design. All actively treated groups significantly prolonged both the bleeding volume (493-984 microliters) and the bleeding time (10-20 min) compared to placebo (41 microliters, 2 min). It was not possible to distinguish a difference between the lower dose of LMWH and 117QTFPI1-161 in either parameter (p = 0.23-0.71). The two doses of 117QTFPI1-161 caused elevation of plasma-TFPI, 18 and 150 times baseline value. Both LMWH doses (0.6-3.2 anti-Xa IU/ml) and both 117QTFPI1-161 doses (0.2-2.7 anti-Xa IU/ml), caused significant effect in the anti-Xa assay, however 117QTFPI1-161 significantly less. Only the largest dose of 117QTFPI1-161 caused significant prolongation in the APTT assay (34 s). Both doses of LMWH caused significant prolongation (60-300 s). LMWH was the only substance to prolong the dilute-PT assay. Non-glycosylated two-domain 1.0 mg/kg TFPI, yielding supraphysiological plasma concentration, has an experimental haemorrhagic potential indistinguishable from LMWH in a prophylactic dose. The effect mediated by this type of TFPI could primarily be due to an inhibition of FXa.     

Ulcerative colitis--late functional results of ileoanal pouch anastomosis

Type IX collagen is a key component of the extracellular matrix of cartilage where it occurs at the surfaces of type II collagen fibrils as a glycanated molecule. The function of the glycosaminoglycan (GAG) side chain of the molecule is, however, unknown. We have shown that type IX collagen in chicken sternal cartilage is synthesized with a unimodal distribution of GAG chain size, but at post 17 days of development three predominant glycanforms of type IX collagen accumulate. Such accumulation did not occur in sterna from day 15 embryos. In day 17 embryos predominant glycanforms were found in the caudal region of the sternum. By day 19 of development the three predominant glycanforms are widespread throughout the caudal and cephalic regions. The results indicate that developmental and anatomical changes occur to type IX collagen that depend on the size of the GAG chain attached to the alpha2(IX) chain of the molecule.     

Ulcerative colitis and Crohn''s disease--susceptibility genes and clinical patterns

The pET(scF11) plasmid was constructed comprising the gene of a single-chain antibody against human ferritin. This plasmid encodes the leader peptide pelB followed by the heavy chain variable V(H) domain, (Gly4Ser)3 linker peptide, and light chain variable V(L) domain. The correctly processed scF11 antibody was expressed in Escherichia coli as an insoluble protein without the leader peptide. Purified soluble scF11 was obtained after solubilization in 6 M GdnHCl followed by a sequential dialysis against decreasing urea concentrations and ion-exchange chromatography. ScF11 demonstrated only a approximately 8-fold decrease in the affinity (Ka = 5.1 x 10(8) M(-1) in RIA and 1.8 x 10(8) M(-1) in ELISA) vs. the parent IgG2a/kappa monoclonal antibody F11. The emission maximum of intrinsic fluorescence strongly suggests a compact conformation with tryptophanyl fluorophores buried in the protein interior, consistent with the functionality of the protein. However, scF11 demonstrated (i) the lack of denaturant-induced fluorescence 'dequenching' effect characteristic of the completely folded parent antibody, and (ii) prominent binding, under physiological conditions, of a hydrophobic probe 8-anilino-1-naphthalenesulfonate (ANS) recognizing partially structured states of a protein. These findings are indicative of an incomplete tertiary fold that gives ANS access to the protein hydrophobic core. This work provides the first indication that the functional single-chain antibody scF11 displays some properties of a partially structured state and therefore may possess incomplete folding.     

Ulcerative colitis and total alopecia in a mother and her son

Extraintestinal autoimmune disorders are associated with ulcerative colitis in selected patients and lend support to the theory of immune-mediated injury in inflammatory bowel disease. Rarely, alopecia areata has been associated with ulcerative colitis, and familial aggregation and an HLA association have been reported for both disorders. The occurrence of both alopecia and ulcerative colitis in a mother and son are reported with a detailed investigation of antineutrophil cytoplasmic antibodies and HLA alleles in this family. Treatment with the immunosuppressive agent cyclosporine proved beneficial in the child leading to remission of the ulcerative colitis and nascent growth of scalp and body hair.