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Biomedical subjects

R Happle

Publications and source records attributed to R Happle.

At least 181 records · Page 10Linked to original sources
PubMed1993

[Pincer nail. Conservative correction by attachment of a plastic brace].

In three women, pincer nail deformity of the big toes was successfully treated by means of commercially available plastic braces. The nail plate was first flattened with an electrically driven dermatological grinder, and pliant braces were then stuck transversely on the nail plate to counteract the overcurvature. Within 3-6 months the nail growth was normalized in two cases and almost completely normalized in the third.

Adult↗
PubMed1993

Mosaicism in human skin. Understanding the patterns and mechanisms.

BACKGROUND: The skin is especially suitable for the study of mosaicism. In this review, the various genetic mechanisms leading to mosaicism and the resulting cutaneous patterns are considered. OBSERVATIONS: Mosaicism may produce different cutaneous patterns such as the lines of Blaschko, the checkerboard pattern, the phylloid pattern, and a patchy pattern without midline separation. A unique lateralization pattern is observed in the CHILD syndrome. Two major genetic categories are functional mosaics resulting from X inactivation and genomic mosaics caused by autosomal mutations. Functional mosaicism may be caused by either male-lethal or nonlethal X-linked mutations. Similarly, autosomal mutations resulting in genomic mosaicism may be either lethal or nonlethal. Many mosaics are caused by loss of heterozygosity, and uncommonly this mechanism may give rise to twin spots such as vascular twin nevi. Some cutaneous mosaic phenotypes virtually always occur sporadically, but exceptionally may show a familial aggregation. This paradox may be explained by paradominant inheritance. Heterozygous individuals are, as a rule, unaffected, but they express the birthmark when allelic loss occurs during embryogenesis. CONCLUSIONS: The concept of cutaneous mosaicism is important for gene mapping because here we have the opportunity to study two populations of cells differing only with regard to the mutation causing mosaicism. Future research will probably show that a specific genetic anomaly, when present as a mosaic, always produces the same type of cutaneous pattern.

Animals↗
PubMed1993

Topical immunotherapy of alopecia areata.

Topical immunotherapy has proven to be a highly rewarding treatment modality for extensive forms of AA. The method should be considered at this time to be in an experimental stage, and therefore hesitation to adopt it is understandable. However, other acceptable and effective modes of treatment are thus far lacking. Extensive AA is not merely a cosmetic problem. Affected individuals often experience a considerable subjective loss of quality of life, and in such cases topical immunotherapy should be considered.

Administration, Topical↗
PubMed1993

[Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype].

Encephalocraniocutaneous lipomatosis is a distinct neurocutaneous syndrome characterized by an extensive fatty tissue nevus of the scalp, protuberances of the cranial bones, lipodermoid of the conjunctiva, multiple intercranial lipomas, and porencephaly. A further case of this multisystem birth defect is reported. The patchy arrangement of lesions that is usually unilateral suggests a mosaic phenotype. The clinical criteria to distinguish this disorder from other mosaic neurocutaneous phenotypes, such as Schimmelpenning syndrome, Proteus syndrome, or Delleman syndrome, are outlined. To explain the origin of this nonhereditary genodermatosis, the concept of a lethal autosomal mutation that survives in a mosaic state is proposed.

Brain Neoplasms↗
PubMed1992

False-negative prenatal diagnosis of restrictive dermopathy.

Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1992

Psoriasis vulgaris, fetal growth, and genomic imprinting.

We report on 2 independent lines of evidence suggesting genomic imprinting of a major gene for psoriasis vulgaris. First, the birth weight of children from psoriatics is influenced by the sex of the psoriatic parent. Children from fathers with psoriasis are considerably (270 g) heavier than children from mothers with psoriasis (P less than 0.004). Second, the disease manifestation (penetrance) depends in part on the sex of the psoriatic parent. Offspring from fathers with psoriasis and male "gene carriers" are significantly (P less than 0.015 and P less than 0.007) more often affected than offspring from mothers with psoriasis and female "gene carriers." Of 91 grandchildren with psoriasis 59 (65%) have an affected grandfather and 32 (35%) a psoriatic grandmother. This deviation from the expected distribution is significant (P less than 0.04). Genomic imprinting is considered a special case of epigenetic modification. We propose that epigenetic modifications of a major predisposing gene in somatic tissues could cause differences in disease activity of psoriasis and could account for the often unpredictable clinical course the disease takes.

Birth Weight↗
PubMed1992

'Dyschromia in confetti' as a side effect of topical immunotherapy with diphenylcyclopropenone.

"Dyschromia in confetti" is a pigmentary disturbance that so far has not been reported to have occurred during topical immunotherapy. In a group of 243 patients treated with diphenylcyclopropenone for alopecia areata, four patients showed a similar pattern of hyperpigmentation and hypopigmentation. In one patient the pigmentary disturbance was confined to the site of diphenylcyclopropenone application on the scalp. Besides dyschromic skin changes on her scalp, one patient had development of a hyperpigmentation on her forearms. In the remaining two patients, dyschromia in confetti became manifest exclusively in areas other than the scalp. This type of pigmentary disturbance appeared 4 to 14 months after the start of treatment, and it has remained unchanged in three patients during a follow-up period of 3 to 10 months. In one patient, the pigmentary changes disappeared when therapy was discontinued but recurred, albeit to a lesser extent, after treatment had been resumed. We conclude that dyschromia in confetti should be regarded as a possible, but probably rare, side effect of topical immunotherapy with diphenylcyclopropenone, especially in individuals with a rather dark complexion.

Adult↗
PubMed1992

Linear arrangement of multiple congenital melanocytic nevi.

A 28-year-old man had numerous slightly papillomatous melanocytic nevi that were arranged in a linear pattern on his right arm. Their distribution was reminiscent of the lines of Blaschko. The nevi had been present since birth and were in part covered with terminal hair. Histopathologic examination showed typical features of congenital melanocytic compound nevi. In addition, the blue-eyed patient showed an iris bicolor in the form of a sectorial brown pigmentation of his right iris. This unusual case may provide a clue to the genetic basis of pigmented nevi.

Adult↗
PubMed1992

Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.

Epidermolysis bullosa is a heterogeneous group of heritable blistering skin diseases affecting epidermis and the dermal-epidermal junction zone. Recently, genetic linkage to the type VII collagen gene (Z = 8.77; theta = 0.00) localized on chromosome 3p21 was shown in three Finnish families with the autosomal dominant form of dystrophic epidermolysis bullosa. Two Dutch kindreds with intrafamilial characteristics of both the Cockayne-Touraine type and Bart's syndrome of autosomal dominant dystrophic epidermolysis bullosa have been studied. Two-point linkage analysis in these two families with the COL7A1 marker revealed a combined lod score of Z = 6.08 at theta = 0.00. These data strongly suggest that the type VII collagen gene is the candidate gene in these Dutch pedigrees. At least two (Cockayne-Touraine and Bart) of the three subtypes of dominant dystrophic epidermolysis bullosa seem to represent different forms of expression of the same gene defect.

Collagen↗
PubMed1992

Topical immunotherapy for alopecia areata: re-evaluation of 139 cases after an additional follow-up period of 19 months.

Within a group of 139 patients previously studied during treatment for alopecia areata with diphenylcyclopropenone (DCP), hair growth was re-evaluated after a period of 19 months following completion of our previous study. Fifty-four patients treated with DCP had total and 6 had partial but cosmetically acceptable regrowth. Twenty-five patients with total regrowth had stopped DCP treatment for a mean period of 15 months and had not relapsed. Nineteen of 28 patients who still applied DCP were in the process of stepwise discontinuation of treatment. Fifteen patients had subsequently been treated with squaric acid dibutylester (SADBE) after having acquired 'tolerance' to DCP; at the time of re-evaluation 3 of these patients had complete regrowth, and 4 patients had partial but cosmetically acceptable regrowth. Topical immunotherapy with DCP and SADBE had resulted in total regrowth in 57/139 patients (41.0%) and in partial but cosmetically satisfactory regrowth in 10/139 patients (7.2%). The type of involvement and duration of alopecia areata were factors of prognostic significance.

Administration, Topical↗
PubMed1992

The genetic risk for alopecia areata in first degree relatives of severely affected patients. An estimate.

Substantial evidence indicates that genetic factors may have a role in the etiology of alopecia areata (AA). Most studies, however, provide only general information on the familial incidence but fail to specify family relationships. We therefore obtained information on the incidence of AA in first degree relatives of 348 severely affected patients. In 7% one of the parents was affected. Among the siblings of the patients 3% had developed AA, while AA was present in 2% of the children. Taking into account the age of the children, their lifetime risk was calculated to approach 6%. However, a severe type of AA is to be expected only in about 2% of the children. The degree of involvement observed in the patients did not influence the frequency and type of AA present in their first degree relatives.

Adolescent↗
PubMed1992

Abnormal expression of Ki-67 antigen in hair follicle of alopecia areata.

The monoclonal antibody Ki-67 was used to determine the numbers of cycling cells in hair follicles both in alopecia areata and in normal scalp skin. Pronounced nuclear staining was limited to the area below the critical line of Auber and the exterior part of the outer root sheath. In alopecia areata there is reduced nuclear Ki-67 binding in the bulb of anagen hair follicles. These findings indicate that inhibition of keratinocyte proliferation might be a pathogenetic mechanism in alopecia areata.

Alopecia Areata↗
PubMed1992

Can alopecia areata be triggered by emotional stress? An uncontrolled evaluation of 178 patients with extensive hair loss.

One hundred and seventy-eight patients with severe alopecia areata were asked at interview whether they attributed their first attack of hair loss to an emotional trauma. Twelve patients (6.7%) reported a severely disturbing event during the 6 months preceding the first symptoms of their disease. No patient reported that episodes of hair loss coincided with stressful life events. Emotional triggers were not especially correlated with any particular type of alopecia areata. The present study does not therefore provide evidence of a significant role of emotional stress in the pathogenesis of alopecia areata.

Acute Disease↗
PubMed1992

[Rhabdomyosarcoma: differential diagnosis of cutaneous tumors in childhood].

Primary rhabdomyosarcoma can arise in the skin, but there are few reports on this common childhood malignancy in the dermatological literature. We report on a male infant with a cutaneous tumour growing on the right nasal bridge since his 10th week of life. Clinically the tumour mimicked pilomatrixoma. Histological and immunohistological examination of the skin tumour and of subsequent lymph node metastases revealed rhabdomyosarcoma of the alveolar growth pattern. Our patient died at the age of 4 years of disseminated organ metastases.

Biomarkers, Tumor↗