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Biomedical subjects

R F Hulsmans

Publications and source records attributed to R F Hulsmans.

At least 19 recordsLinked to original sources
PubMed1998

Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology.

BACKGROUND: This study describes 12 cases of restrictive dermopathy seen during a period of 8 years by the Dutch Task Force on Genodermatology. We present these unique consecutive cases to provide more insight into the clinical picture and pathogenesis of the disease. OBSERVATIONS: Clinical features in more than 85% of these children were prematurity, fixed facial expression, micrognathia, mouth in O position, rigid and tense skin with erosions and denudations, and multiple joint contractures. Ten patients underwent histopathologic skin biopsy. The biopsy results showed flattening of rete ridges in all 10 patients, a thin dermis with collagen aligned parallel to the epidermis in 9 patients, and poorly developed dermal appendages in 9 patients. Additional findings in individual patients included blepharophimosis, inguinal skin tear, skin tear in the frontal neck area that developed during delivery, absent eyelashes, a wide ascendent aorta, and dextrocardia. Fibroblast cultures taken from 5 patients did not show abnormal alpha 2 beta 1 and alpha 1 beta 1 integrin expressions. CONCLUSIONS: The alleged rarity of restrictive dermopathy may be partially caused by medical unfamiliarity with this entity, despite its characteristic clinical and histopathologic picture. The pathogenesis of the disease still needs to be elucidated.

Abnormalities, Multiple↗
PubMed1998

Molecular heterogeneity of second and fourth components of complement and their genes in systemic sclerosis and association of HLA alleles A1, B8 and DR3 with limited and DR5 with diffuse systemic sclerosis.

Deficiency of the complement component C4 at the functional, protein and gene level and deficiency of complement component C2 at the functional level were investigated and HLA analysis was performed on patients with limited and diffuse systemic sclerosis (SSc). One of the patients with limited SSc (n = 15) had subnormal C4, 1 subnormal C2 and 1 subnormal C4 and C2 activities; the latter patient had HLA alleles A11;B35;Dw1 associated with type II C2 deficiency and therefore most likely had a defect at the C2 locus. One of the patients with diffuse SSC (n = 12) had subnormal C4 and 1 subnormal C4 and C2 activities. C2 deficiencies in patients other than the one with the haplotype associated with C2 deficiency appeared not to be determined by the gene at the C2 locus. The incidence of partial C2 deficiency in a normal Caucasian population is reported to be 16 in 10,000, and that of partial C4 deficiency also appears to be very low. The percentages of C4A*Q0 and C4B*Q0 alleles in normal controls (n = 45) were within the reported range. Seven patients with limited SSc (n = 14) had one or two C4A*Q0 alleles and 2 with diffuse SSc (n = 13) had one C4A*Q0 allele. Thus, the incidence of C4A*Q0 was higher than normal in limited SSc and within the normal range in diffuse SSc. The two-sided Fisher's exact test applied on these data revealed that the association of C4A*Q0 with limited SSc did not reach a significant level (p = 0.10). Two of the 3 patients with limited SSc, who had two C4A*Q0 alleles, carried a heterozygous C4A-21-hydroxylase A (OHA) gene segment deletion as detected by Southern blotting. There was no correlation between the subnormal activity of C4 and the occurrence of one or two C4A*Q0 (and C4A-21-OHA segment deletion). HLA alleles A1, B8 and DR3 (p = 0.002) were associated with limited SSc (n = 23) and DR5(w11) (p = 0.018) with diffuse SSc (n = 17).

Alleles↗
PubMed1997

Melanosis naeviformis of Becker and scoliosis: a coincidence?

Melanosis naeviformis of Becker (MNB) can be associated with hypoplasia of soft tissue or extremities, spina bifida and scoliosis of the vertebral column. We have investigated 50 patients (42 men, 8 women) with MNB radiologically. Scoliosis was diagnosed in 13 patients (26%). The curves of scoliosis varied from 11 degrees to 17 degrees. Physical examination revealed no gross asymmetries of the trunk, extremities or breasts. No correlation was seen between the age of patients and the scoliotic curve. In one family the father and oldest son had MNB with scoliosis and the other son and daughter had MNB without scoliosis. Since only mild scoliosis is found in patients with MNB, X-ray examination of the vertebral column has no therapeutic consequences.

Adolescent↗
PubMed1996

Leucocytoclastic vasculitis induced by prolonged exercise.

Many people develop skin symptoms after long-distance walks, but little is known about the aetiology of these. In this study we took 11 biopsies from 10 long-distance walkers who walked 80 km. All biopsies originated from purpuric lesions on the lower legs, which had appeared during walking. In all 11 specimens, signs of a leucocytoclastic vasculitis were present with leucocytoclasis, exocytosis of erythrocytes and a granulocyte/mononuclear perivascular infiltrate. Immunofluorescence investigations showed deposition of C3c in many specimens and immunoglobulin M in some. The occurrence of a leucocytoclastic vasculitis after prolonged exercise may be explained by the existence of an exercise altered cutaneous microcirculation, complement activation and an altered immune function.

Complement C3c↗
PubMed1996

Incomplete functional deficiencies of the fourth (C4) and second (C2) components of complement in a patient with linear frontoparietal scleroderma and his family. Deficiencies determined by a gene not linked to human leukocyte antigen system.

BACKGROUND: In a previous study, a patient suffering from linear frontoparietal scleroderma and some of his family members were found to have an incomplete functional deficiency of the second component (C2) of complement (C). In this study, the proband and the rest of his family members were investigated for functional deficiencies of C2 and the fourth component of C (C4). A search for null alleles of C2 (C2*Q0) and C4 (C4*Q0) was made to find out whether their occurrence is responsible for incomplete functional deficiencies. HLA analysis was performed to find out whether deficiencies are linked to HLA alleles known to be associated with C4*Q0 and C2*Q0. Possible large deletions at C4 and 21-hydroxylase (21-OH) gene loci were also investigated in some family members. OBSERVATIONS: The proband had a combined functional deficiency of C4 and C2. Some of his family members had a partial functional deficiency of C4, some of C2 and some of C4 and C2; none had null alleles of C2 (C2*Q0), factor B (B*Q0) or C4B (C4B*Q0). C4*Q0 or functional C4 deficiency in this family was not associated with HLA-A1;B8;DR3 alleles. C2 deficiency was also not associated with HLA antigens known to be associated with type I and II C2 deficiencies. No gene deletion or unusual polymorphism at C4A and 21-OHA loci could be seen by restriction fragment length polymorphism (RFLP) studies. CONCLUSIONS: Combined and isolated partial functional deficiencies of C4 and C2 observed in the proband and many of his family members were not caused by C activation or null alleles. They were not linked to HLA system and were reminiscent of those observed previously in a family in which C4 deficiency was determined by a gene not linked to the HLA system.

Alleles↗
PubMed1994

[Bilateral linear temporoparietal scleroderma en coup de sabre].

Bilateral linear frontoparietal scleroderma en coup de sabre is an extremely rare form of localized linear scleroderma. In this paper the case of a 35-year-old woman with bilateral linear temporoparietal scleroderma en coup de sabre is presented. The manifestations that can be associated with linear scleroderma and the serologic abnormalities it involves are briefly discussed.

Adult↗
PubMed1994

Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis. The X-linked recessive form of HED, also known as Christ-Siemens-Touraine syndrome, is the most frequent and widely documented form. A clinically identical autosomal recessive form of HED has also been described. Because of the X-linked mode of inheritance, nearly all observations have concerned pedigrees of predominantly male affected patients. We present a rare isolated affected female child with a mosaic expression of HED. We attempted to assess the mode of inheritance in our case. OBSERVATIONS: We documented the characteristic clinical appearance in our proband, as well as the scanning electron microscopic findings regarding the hair. The starch-iodine test results in this patient revealed the clinical expression of HED in a mosaic fashion, running along the Blaschko lines. CONCLUSIONS: The starch-iodine test results proved to be useful in the assessment of carriers of X-linked HED, and our proband was considered to an isolated affected female with a mosaic expression of HED.

Child, Preschool↗
PubMed1993

Adhesion molecule expression in venous leg ulcers.

The final stage of chronic venous insufficiency (CVI) is ulceration. Several theories have been suggested to explain the skin changes and ulcerations. However, none of these can fully account for all the alterations which occur. Adhesion molecules are considered to play an important role in inflammatory reactions and in the process of wound healing. The aim of our study was to investigate the expression of intercellular adhesion molecule-1 (ICAM-1), endothelial leucocyte adhesion molecule-1 (ELAM-1), and vascular cellular adhesion molecule-1 (VCAM-1) in venous leg ulcers. Skin biopsies from 8 patients were taken from the surrounding skin of venous ulcers. ICAM-1 showed a weak to moderate expression on the endothelium of capillaries directly below the venous ulcer. A moderate expression of ICAM-1 was found on capillaries in the papillary dermis around the ulcus, similar to that of normal controls. A strong expression of ELAM-1 was only found on capillaries in the infiltrate directly under the ulcer. Some specimens also showed a moderate expression of ELAM-1 around the ulcus. Expression of VCAM-1 was subsequently found to be negative in all patients. The results suggest a disturbed inflammatory reaction in venous leg ulcers. In the area around the ulcer, where healing should initiate, the adhesion of monocytes and lymphocytes to the endothelium and the migration of these cells to the wound area were found to be insufficient.

Adult↗
PubMed1993

Successful treatment of pyoderma gangrenosum with topical 5-aminosalicylic acid.

Pyoderma gangrenosum in a twenty-nine-year-old woman with associated long-standing Crohn's disease was treated with topical 5-aminosalicylic acid cream. Significant improvement in the ulceration occurred despite progressive deterioration of the inflammatory bowel disease. The possible mode of action is reviewed. The efficacy, together with the lack of side effects, warrants further study into the therapeutic role of topical 5-aminosalicylic acid.

Administration, Cutaneous↗
PubMed1992

[Replacement of Kathon CG by Euxyl K 400 in cosmetics; from the frying pan into the fire?].

The recent negative publicity on the cosmetics preservative Kathon CG has made many cosmetic manufacturers look for safer alternatives. The most popular substitute appears to be Euxyl K 400, containing phenoxyethanol and methyldibromoglutaronitrile. Unfortunately, this preservative also induces allergic reactions to cosmetics and (at least in the Netherlands) to 'moist toilet paper'. Therefore, in cases of apparent reactions to cosmetics and of eczema ani, allergy to methyldibromoglutaronitrile should be suspected. Testing the finished products often results in false-negative reactions, and consequently the allergen (suggested concentration 0.05% in petrolatum) should preferably be tested separately.

Cosmetics↗
PubMed1991

Hereditary deficiency of C5 in association with discoid lupus erythematosus.

A 29-year-old woman with discoid lupus erythematosus had undetectable classic pathway complement activity. Hypocomplementemia was due to selective deficiency of C5. One of her children was also deficient. To our knowledge this is the first documented case of an association between discoid lupus erythematosus and C5 deficiency.

Adult↗