Flemming Brandrup

Clinical patch test data evaluated by multivariate analysis

The aim of the present study was to evaluate the influence of individual explanatory factors, such is sex, age, atopy, test time and presence of diseased skin, on clinical patch lest results, by application of multivariate statistical analysis. The study population was 2l66 consecutive patients patch tested with the standard series of the International Contact Dermatitis Research Group (ICDRG) by members of the Danish Contact Dermatitis Group (DCDG) over a period of ft months. Fur the 8 test allergens most often found positive (nickel, fragrance‐mix, cobalt, chromate. balsam of Peru, carba‐mix, colophony, and formaldehyde). one or more individual factors were of significance for the risk of being sensitized, except for chromate and formaldehyde it is concluded that patch test results can be compared only after stratification of the material or by multivariate analysis.

A double-blind, placebo-controlled study of a commercial Aloe vera gel in the treatment of slight to moderate psoriasis vulgaris

Background  The Aloe vera plant has been used for an array of ailments, including skin diseases. Recent experimental research have substantiated the presence of biologically active compounds in the gel, but there are few controlled, clinical trials to assess the efficacy.

Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease

The skin and oral mucosa were studied in an unselected series of carriers of X‐linked chronic granulomatous disease, a hereditary condition in which phagocytic cells display a pronounced functional defect.

Nickel-sensitive patients with vesicular hand eczema: oral challenge with a diet naturally high in nickel

Oral challenge with nickel sulphate indicated that vesicular hand eczema in nickel‐sensitive patients may be exacerbated by nickel occurring naturally in the diet. Twelve nickel‐sensitive females with vesicular hand eczema were challenged with a supplementary high nickel diet for 4 days in a single‐blind cross‐over study. The diet had about five times the average nickel content of the daily Danish diet. An aggravation of the hand eczema was observed in six out of 12 patients on day 4 after the start of the challenge. By day 11, the hand eczema was worse in 10 out of 12 patients, and remained unchanged in two.

Steroid sulphatase deficiency disease.

Seventy‐six ichthyotic male patients with a biochemically confirmed diagnosis of steroid sulphatase deficiency are reported. Ascertainment was based on either a previous diagnosis of placental steroid sulphatase deficiency (21 probands and 15 secondary cases), or ichthyosis with steroid sulphatase deficiency (29 probands and 11 secondary cases). The ichthyotic phenotype of the first group was indistinguishable from that of the other group, and completely fitting the classic description of recessive X‐linked ichthyosis. A prominent skin peeling in early infancy was found to be a characteristic feature of this syndrome. Maldescent of the testis was registered in 9 patients; and testis cancer had been diagnosed in 2 males with normally descended gonads. This high proportion of patients with gonadal abnormalities strongly indicates a relation with the steroid sulphatase deficiency. Corneal opacities, not affecting visual acuity, were seen in 14 out of 28 males by slit‐lamp examination.

Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda

Individuals with the most common form of the porphyrias, porphyria cutanea tarda (PCT), are believed to be genetically predisposed to development of clinically overt disease through mutations and polymorphisms in genes associated with known precipitating factors. In this study, we have examined a group of Danish patients with PCT for the presence of the C/A polymorphism in intron 1 of CYP1A2. The results demonstrate that the frequency of the highly inducible A/A genotype is increased in both familial and sporadic PCT. This suggests that inheritance of this genotype is a susceptibility factor in development of PCT.

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3. This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker D6S1701 in all families. The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp.

Cutis laxa: autosomal dominant inheritance in five generations.

Cutis laxa is described in three cases: a 17‐year‐old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose‐hanging, wrinkled and without elasticity. X‐ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance.

Penicillamine‐induced bullous pemphigoid with pemphigus‐like antibodies

A rheumatoid arthritis case is described who developed bullous skin eruption with mucosal involvement after 3 years of treatment with penicillamine. Histologically, changes compatible with bullous pemphigoid were found. Direct immunofluorescence showed linear, as well as intercellular, deposits of IgG. By indirect immunofluorescence IgG antibodies reacting with the basal membrane zone, as well as the intercellular substance, were detected in the serum. We believe that the patient had bullous pemphigoid with pemphigus‐like antibodies induced by penicillamine.

KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented-appearing maculae, and lentigines. FPHH is distinct from familial progressive hyperpigmentation (FPH), in which no hypopigmented features are present, and which is phenotypically and histologically closer to Dyschromatosis Universalis Hereditaria 2 (DUH2). It also differs from the Legius syndrome, characterized by familial café-au-lait spots and skin fold freckling, caused by mutations in SPRED1. We performed a genome-wide linkage analysis in seven families with FPHH, and identified linkage on 12q21.12-q22, which overlaps with the DUH2 locus. We investigated whether KITLG in the locus is mutated in FPHH. We discovered three different mutations in four families. A reported FPH substitution was observed in two FPHH families, and two, to our knowledge, previously unreported substitutions, p.Val33Ala and p.Thr34Pro, cosegregated with FPHH in two separate families. All three mutations were located in a conserved β-strand in KITLG, suggesting its important role in the activation of the KITLG receptor c-Kit. In aggregate, mutations in a single gene cause various pigmentation disorders: FPH, FPHH, and likely DUH2. Therefore, KITLG is an important modulator of skin pigmentation.