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Biomedical subjects

R Happle

Publications and source records attributed to R Happle.

At least 217 records · Page 12Linked to original sources
PubMed1991

Topical treatment with 13-cis-retinoic acid improves Darier's disease and induces the expression of a unique keratin pattern.

A patient with Darier's disease was treated topically with either 13-cis-retinoic acid 0.1%, all-trans-retinoic acid 0.05% or their cream base only. Both 13-cis-retinoic acid and all-trans-retinoic acid were effective. However, all-trans-retinoic acid had to be discontinued because of irritation. By contrast, 13-cis-retinoic acid was well tolerated and resulted in a complete remission. Both retinoids caused a marked change in the expression of cytokeratins. The most remarkable observation was the expression of cytokeratins 4, 13 and 19 at retinoid-treated areas. These cytokeratins are absent in adult normal or diseased epidermis and hence provide a cell-biological tool to substantiate a retinoid effect.

Administration, Cutaneous↗
PubMed1991

Epidermal transglutaminase in the ichthyoses.

Membrane-bound transglutaminase (TGm) is responsible for the cross-linking of proteins to form the cornified envelope. Since abnormalities have been reported in the envelope in certain ichthyoses, we have carried out a survey of TGm concentrations in scales from these disorders. Surprisingly, a striking and specific increase in enzyme activity was found in patients with non-erythrodermic autosomal recessive lamellar ichthyosis. It is not clear how this increase is related to the underlying recessive mutation.

Adolescent↗
PubMed1991

[Segmental neurofibromatosis and germ-line mosaicism].

Segmental neurofibromatosis, also designated "NF-V" according to Riccardi's classification, should be considered a mosaic manifestation of one of the other types of neurofibromatosis, mostly of NF-I. Irrespective of the site and size of the body area affected, the patients are always at risk of germ-line mosaicism and they may therefore transmit the phenotype, but not the mosaic, to the next generation. Hence it follows that segmental neurofibromatosis does not constitute a distinct entity, and it is not reasonable to discriminate unilateral from bilateral or "hereditary" from "nonhereditary" forms.

Germ Cells↗
PubMed1990

[Acitretin therapy in keratinization disorders].

The introduction of the oral retinoid etretinate in the past decade has proved to be a major advance in the treatment of disorders of keratinization. During the past few years a new retinoid acitretin has been investigated in clinical trials. Acitretin has a half-life time of 2 days, versus 100 days for etretinate. Acitretin has therefore a great advantage with respect to the teratogenic potential of retinoids. The period of contraception after cessation of acitretin therapy is only two months, compared with two years for etretinate. From December 1989, etretinate has been replaced by acitretin in The Netherlands. In the Department of Dermatology of the University Hospital of Nijmegen, 36 patients with various disorders of keratinization were treated with acitretin. In this communication therapeutic results of acitretin therapy are reported. Clinical efficacy and side effects of acitretin are similar to those observed with etretinate.

Acitretin↗
PubMed1990

Ichthyosis bullosa of Siemens: further delineation of the phenotype.

We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the shins and the periumbilical region. Blistering occurred after slight mechanical trauma and even after sweating, resulting in superficially denuded areas. Two affected family members also suffered from chronic, relapsing pustular eruptions surrounded by a transient erythematous flare. Light- and electron-microscopic examination revealed epidermolytic hyperkeratosis limited to the upper part of the epidermis. The pustular lesions were found to be subcorneal blisters filled with neutrophils. Ichthyosis bullosa of Siemens can be clearly distinguished from bullous ichthyosiform erythroderma. The observation of subcorneal pustular dermatosis occurring in this phenotype provides further evidence for the genetic heterogeneity of epidermolytic hyperkeratosis.

Acitretin↗
PubMed1990

Ptychotropism as a cutaneous feature of the CHILD syndrome.

The hallmark of the CHILD syndrome is a unilateral ichthyosiform nevus that displays a pronounced affinity for the body folds. For this phenomenon the term ptychotropism is proposed. The expression is composed from the Greek words ptyché (fold) and tropé (a turning). It is concluded that the cutaneous lesions of the CHILD nevus are determined by two factors, lyonization and ptychotropism. The phenomenon of ptychotropism constitutes an additional argument to distinguish the CHILD nevus from the inflammatory linear verrucous epidermal nevus because the latter is not ptychotropic.

Female↗
PubMed1990

Enzymatic distinction between two subgroups of autosomal recessive lamellar ichthyosis.

It has been proposed that the autosomal recessive lamellar ichthyoses may be divided into two subgroups, the erythrodermic (EARLI) and non-erythrodermic (NEARLI) forms. We report measurements of the enzymes beta-glucosidase, a recently described phosholipase, a short-chain carboxylesterase ("butyrase"), and a long-chain carboxylesterase ("palmitase") in aqueous extracts of scales from patients diagnosed according to clinical and micromorphologic criteria, and show that beta-glucosidase and phospholipase tend to be lower in the EARLI group, whereas butyrase is relatively low in the NEARLI group. The internal ratio of either butyrase/glucosidase or butyrase/phospholipase yields a clear separation of the two subgroups, supporting the concept of heterogeneity in this group of diseases.

Adolescent↗
PubMed1990

Naevus corniculatus: a new acantholytic disorder.

We describe a 33-year-old man with an unusual epidermal naevus that followed the lines of Blaschko. There were filiform hyperkeratoses, large cutaneous horns and lesions that resembled giant comedones and linear hyperkeratotic plaques. All of these lesions showed acantholysis without dyskeratosis. As the disorder is characterized by multiple small or large horn-like processes, we propose the term 'naevus corniculatus'.

Acantholysis↗
PubMed1990

Acitretin in the treatment of erythrokeratodermia variabilis.

A patient with erythrokeratodermia variabilis (Mendes da Costa's disease) is presented, and the clinical and histological response to acitretin is described. An initial dose of 35 mg of acitretin and a maintenance dose of 25-35 mg resulted in a pronounced and sustained improvement. Further reduction of the dosage resulted in a relapse within a few days. At the histological level the extensive hyperkeratosis and the moderate dermal inflammatory infiltrate decreased during treatment with acitretin. In comparison with the other retinoids available so far, acitretin is the derivative of first choice in the treatment of erythrokeratodermia variabilis Mendes da Costa.

Acitretin↗
PubMed1990

Erythema multiforme-like eruptions: a rare side effect of topical immunotherapy with diphenylcyclopropenone.

We report 3 cases of erythema multiforme following topical application of diphenylcyclopropenone (DCP) for the treatment of alopecia areata. This eruption represents a rare side effect which could be controlled with corticosteroids given both systemically and topically. When this unusual reaction occurred, treatment with DCP was stopped. In one of the patients, subsequent topical immunotherapy with squaric acid dibutylester was not complicated by this side effect and resulted in complete hair regrowth.

Administration, Topical↗
PubMed1990

Elastase-inhibiting activity in scaling skin disorders.

Elastase inhibiting activity (EIA) has been observed in normal skin as a response to surface trauma, immediately following the intra-epidermal accumulation of polymorphonuclear leukocytes (PMN). In order to elucidate the relation between EIA and inflammation, the inhibiting activity was assessed in skin samples of scaling dermatoses (a) without significant inflammation: erythrodermic autosomal recessive lamellar ichthyosis (EARLI), non-erythrodermic autosomal recessive lamellar ichthyosis (NEARLI), X-linked recessive ichthyosis (XLRI) and X-linked dominant chondrodysplasia punctata (XLD-CDP); (b) with predominantly mononuclear cell infiltration: atopic dermatitis; (c) with mixed infiltration of PMN and mononuclear cells: psoriasis and Netherton syndrome. All skin disorders investigated showed an increased EIA as compared with normal skin. Scales from psoriatic lesions, EARLI and Netherton syndrome showed a statistically significant increase in EIA above that observed in other monogenic disorders of keratinization NEARLI, XLRI XLD-CDP and above atopic dermatitis. EIA proved to be an indicator for abnormal keratinization with a marked expression when a mixed infiltrate is present in the skin.

Biopsy↗