Adoption of a demographic database for family studies of hereditary palmoplantar keratoderma type Gamborg Nielsen.

In the northernmost county of Sweden (Norrbotten) two different clinical and genetic types of hereditary palmoplantar keratoderma have been reported: a common autosomal dominant form, corresponding to the descriptions performed by Unna and Thost, and an obviously autosomal recessive form, which clinically differed from other diffuse palmoplantar keratodermas, named the Gamborg Nielsen type. For further family studies and to support its probably recessive inheritance a demographic mapping of four families with this rare keratinization disorder was performed. It could be shown that these families belonged to the same family at different levels of generations; however, a common ancestor, who connected these families was not found. Marital distance of heterozygotes and birth places of probands were limited to an area, which is generally known to harbour different inherited disorders. According to a map of the origin of family members, it was shown that the major part originated from the same area and that the integration of family members had occurred in the same places. It was concluded that adoption of a demographic database for family studies in genetic research may contribute valuable information about family relations.

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.

Dermatophytes and keratin in patients with hereditary palmoplantar keratoderma. A mycological study.

Fourteen patients with hereditary palmoplantar keratoderma of the Unna Thost variety were included in the study. Dermatophytosis was found in 7 of the 14 patients. Six were affected with T. rubrum and one with T. mentagrophytes. The growth pattern of dermatophytes in keratin from the patients did not differ from that of normal control individuals. Keratin from patients with hereditary palmoplantar keratoderma was sterilized with ethylene gas and placed in the center of culture plates, previously broad inoculated with control dermatophytes or dermatophytes isolated from patients. An inhibition zone around the keratin was found in 42.9% of the control dermatophytes and in 83.4% of the patient cultures. The inhibition zone was only seen in cultures with T. rubrum and not in those with T. mentagrophytes. No significant difference in minimal inhibitory concentration values against ketoconazole between control dermatophytes and dermatophytes from patients was demonstrated.

Treatment of nummular psoriasis with a clobetasol propionate stick.

Twenty-two consecutive patients with nummular psoriasis were treated with a 0.05% clobetasol propionate stick on the right side of the body and with 0.05% clobetasol propionate ointment (Dermovate, Glaxo) on the left according to an intermittent application schedule. The trial was open and lasted for 3 weeks. The patients were assessed at the beginning and at the end of the trial. The variables studied included: an overall clinical assessment, assessment of the lesion area, scaling, erythema and thickness and the amount of clobetasol propionate used during the trial, and a questionnaire on patients' opinions about hygienic and cosmetic qualities of the stick. No significant difference was found between the stick and corresponding ointment. From a hygienic and cosmetic point of view, the patients preferred the stick formulation.

Topical metronidazole gel. Use in acne vulgaris.

Two percent metronidazole and 5% benzoyl peroxide cream was evaluated in four clinical trials. It could be shown that this test cream was significantly better than 5% benzoyl peroxide jelly alone, and significantly better than a placebo cream. It was also shown that 2% metronidazole and 5% benzoyl peroxide cream was equal to systemic oxytetracycline therapy. The advisability of the combination of metronidazole and benzoyl peroxide was simultaneously discussed.

Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance.

Treatment of chronic leg ulcers with a hydrocolloid dressing.

The effects of a hydrocolloid dressing (Comfeel Ulcus) on the physical environment of chronic leg ulcers in 58 consecutive out-patients were investigated. Patients were subdivided into two groups of which Group 1 included 31 (53.4%) and Group 2, 27 (46.6%) patients. Twenty-three (39.7%) patients healed within 7 weeks (study period) and 49 (84.5%) within 1 year (follow-up period). Aerobic and anaerobic bacterial cultures as well as mycotic cultures were performed from ulcer bases of both groups of patients. In Group 1 a 3 mm punch biopsy was taken from the ulcer margins for histopathological examination. In Group 2 serum levels of iron, zinc, copper and selenium were measured and in these latter patients a mean temperature difference of 2.8 degrees C between the ulcer base and the skin surrounding the ulcer was found. There was no difference in ulcer pH in patients belonging to Group 2, independent of bacterial or fungal contamination. Low serum iron was found in 74.1% and anaemia in 40.7% of the patients in Group 2. No differences in ulcer healing were seen in these patients compared with those without iron-deficiency or anaemia. No differences were seen in serum iron, zinc, copper or selenium levels between good and poor healers. There were 22.2% ulcer relapses in Group 1 within a year of the start of the study, with no relapses in those 15 patients of Group 2 who used specially designed compression stockings.

Punctate palmoplantar keratoderma associated with morbus Bechterew and HLA B 27. A family study.

Four patients in a family with punctate palmoplantar keratoderma (Buschke-Fischer) associated with Morbus Bechterew and HLA B 27 in 3 of the family members are reported. Without severe side effect, the proband was successfully treated with 50 mg etretinate per day for 6 weeks.

Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden.

A follow-up study of clinical and genetic observations, made on patients with hereditary palmoplantar keratoderma living in the northernmost county of Sweden (Norrbotten) in 1967, was performed. Two clinical types could be distinguished, a common form with an autosomal dominant mode of inheritance, corresponding to the description of the Unna Thost variety and a severe form with evidently an autosomal recessive inheritance. One of the patients with the severe form had a mutilating palmoplantar keratoderma. Neither employment nor dermatophytosis influenced the severity of the hyperkeratosis in any of these two types. Occurrence of hereditary palmoplantar keratoderma together with other genodermatoses of dermatoses with a polygenic mode of inheritance was also found in this study.

Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome.

Two cases of epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders were described. It was proved that the reported cases represented a new syndrome, which had previously not been published. The syndrome was named "Syndroma Kallin" after the surname of the two patients. Two genetic theories were suggested: an autosomal recessive genetic trait or a gonadal mosaicism with an early dominant gene mutation.

Hereditary palmoplantar keratoderma in the northernmost county of Sweden.

A papular and a diffuse variety of hereditary palmoplantar keratoderma (Unna Thost) are described. It was not possible to demonstrate any histopathological differences between the two varieties. Of the patients examined 36.2% were found to have dermatophytosis in addition to hereditary palmoplantar keratoderma. The hyperkeratosis was smooth and uniform in both varieties. When scaling and fissuring did occur they were signs of dermatophytosis and not part of the clinical picture. The examination of biopsies stained with H&E and PAS showed that dermatophytosis in patients with hereditary palmoplantar keratoderma, especially those with recurrent vesicular eruptions, gave rise to a histopathological picture which was, in some respects, similar to that of acute vesicular eczema.

Wound assessment in clinical practice. A critical review of methods and their application.

This review describes the methods that may be used clinically for the assessment of open wounds and indicates potential limitations in their usefulness. None of the methods available for the appraisal of wounds in human subjects measures healing directly but a number of objective variables may be used to shed light on the healing process. Research methods have been suggested that may be clinically useful in assessing healing but are not generally available at present.

Psoriasis and hereditary palmoplantar keratoderma complicated with a dermatophyte infection. Case report.

In a 29-year-old woman suffering from hereditary palmoplantar keratoderma of the Unna Thost variety, psoriasis appeared at an age of 28 years. The keratoderma on the soles was complicated with a dermatophyte infection, which made the differential diagnosis towards psoriasis difficult. Histopathologic examination of punch biopsy from the soles showed no conclusive signs of psoriasis. An increased thickness of the horny layer, which in PAS staining showed fungus hyphae, was found.

Immunological aspects of dermatophyte infections in hereditary palmo-plantar keratoderma.

Family and personal histories of atopy, total IgE level in serum, AB0 blood groups, trichophytin reactions, IgE RAST, IgG RAST and precipitating antibodies were investigated in patients with hereditary palmo-plantar keratoderma and dermatophytosis. 44% of the patients with dermatophytosis had a personal and/or family history of atopy and 67% a total IgE greater than 100 kU/ml. No significant differences in the rate of dermatophytosis were found between atopics and non-atopics, nor were there differences between patients with a total IgE above and those with a level below 100 kU/ml. The determination of AB0 blood groups showed that T. mentagrophytes occurred significantly more often in patients with blood group A. All delayed trichophytin reactions were negative. A positive immediate trichophytin reaction was found in only 1 patient, who also had a raised level of IgE antibodies against dermatophytes. The level of specific IgG antibodies was increased in patients infected with T. rubrum and E. floccosum, which two species were found to have at least one antigen in common. Homologous precipitating antibodies occurred in 54% of the patients with hereditary palmo-plantar keratoderma, which is a considerably higher value than that reported in dermatophyte infected patients without this inherited disorder.

Dermatophyte infections in hereditary palmo-plantar keratoderma. Frequency and therapy.

The frequency of dermatophyte infections in hereditary palmo-plantar keratoderma ( HPPK ) of the Unna - Thost variety was investigated in 280 patients admitted to the Department of Dermatology, Central Hospital, Boden , during 1977-1981, and was found to be 35.0%. The distribution of fungi did not differ from that found for the total number of dermatophytes. An almost complete therapeutical resistance was found especially in Trichophyton rubrum infections, when patients were treated with micronized griseofulvin and topical econazole cream. Treatment of dermatophyte infections in HPPK with 50% propylene glycol in distilled water gave poor results but when 1% econazole nitrate was added negative cultures were found in 86.4% of the patients treated for 3 weeks.

A curious genetic coincidence found in a study of palmoplantar keratoderma.

In a study of hereditary palmoplantar keratoderma of the Unna Thost variety in the northernmost county of Sweden (Norrbotten) a genetic coincident between this inherited disorder and the autosomal dominant form of ichthyosis vulgaris was found. In the same family a patient with ichthyosis vulgaris combined with palmoplantar hyperkeratosis and hyperkeratotic plaques on the knees and the elbows appeared.

The prevalence of dermatophyte infections in hereditary palmo-plantar keratoderma.

The prevalence of dermatophyte infections in hereditary palmo-plantar keratoderma of the Unna Thost variety was investigated. Sixty patients, who represented 7.5% of a well defined population, participated in the study. The prevalence was found to be about 40%. At the same time the correlation between direct microscopic examination and conventional culture methods was shown to be 88.5%.

Mutilating palmo-plantar keratoderma.

A 36-year-old male, with no history of hereditary palmo-plantar keratoderma, showed at the age of 2-3 years a typical keratoderma of the Unna Thost variety on palms and soles. At the age of 16 years he developed mutilating symptoms localized to the fingers. Radiologic examination showed abnormally pointed end phalanges.