Biomedical subjects
R Happle
Publications and source records attributed to R Happle.
Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?
A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa.
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens, but in contrast to ichthyosis bullosa of Siemens no histologic signs typical for epidermolytic hyperkeratosis are observed. We used linkage analysis to test whether keratin gene mutations might underlie both diseases. This analysis showed linkage of both disorders with the region of chromosome 12 in which the keratin type II gene cluster is located. The keratin type I gene cluster on chromosome 17 is excluded. These data, combined with clinical observations, strongly suggest that the genes coding for keratin 1 or keratin 2e, both expressed in the suprabasal compartment of the epidermis and located in the type II gene cluster, are candidate genes for ichthyosis bullosa of Siemens and ichthyosis exfoliativa.
Cytokine mRNA levels in Alopecia areata before and after treatment with the contact allergen diphenylcyclopropenone.
Although the nature of the noxious signal and the anatomical target in alopecia areata (AA) are still unknown, it has been assumed that CD4+ T lymphocytes surrounding and infiltrating the hair bulb might trigger the hair loss. As these T lymphocytes do not promote cytotoxic activity we hypothesize that AA is triggered by cytokines. Topical immunotherapy with diphenylcyclopropenone (DCP) is at present the most effective approach. If it is true that AA results from a distinct cytokine pattern, we can hypothesize that the beneficial effect of DCP should be mediated by locally secreted cytokines during the contact allergy. Using semiquantitative reverse transcription-polymerase chain reaction with RNA extracted from scalp biopsies from patients with AA before and after successful treatment with DCP, and from healthy controls we detected a T-cell response with increased steady state mRNA levels for interferon (IFN)-gamma, interleukin (IL)-1 beta, and IL-2 in untreated AA of the totalis type. After DCP treatment, the IFN-gamma expression was reduced but still above the constitutive level found in controls, whereas mRNA expression of IL-2, IL-8, IL-10, and tumor necrosis factor-alpha was increased. Our results point towards cytokines involved in the pathogenesis in AA. A TH1 type cytokine pattern is present in untreated AA, and this is modified by cytokines secreted during DCP treatment. IL-10 has recently been described as an immunomodulator of the TH1 response and, therefore, we hypothesize that basal keratinocytes or lesional T cells secrete bioactive IL-10 after DCP application, resulting in an inhibitory effect on lesional T lymphocytes. This hypothesis would explain the effectiveness of DCP and implies the theoretical possibility of a response to topical or intralesional application of recombinant IL-10.
Fox-Fordyce disease in a male patient--response to oral retinoid treatment.
Fox-Fordyce disease (apocrine milaria) is predominantly observed in women. A male patient with typical features of this disorder is described. Oral treatment with isotretinoin resulted in temporary relief.
Osteoarthropathia psoriatica of one leg: a manifestation of somatic mosaicism?
A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psoriasis-typical HLA markers. Psoriasis of the skin has not been found. Environmental factors, including a Köbner phenomenon on the skeleton resulting from a trauma 13 years ago (hallux rigidus operation), are discussed in connection with this manifestation. The genetic aspects of this unusual localization are considered.
[Genetic dermatoses in gynecology and obstetrics].
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[Grünewald nevus].
An accurate and complete depiction of the halo naevus has been left by Matthias Grünewald in his painting "The Temptation of St. Anthony", which is part of the Isenheim altar piece (1512-1516), which is now exhibited in Colmar, Alsace. In contrast, Sutton in 1916 only described a "leucoderma acquisitum centrifugum", leaving the nature of the central lesion in the dark. The term Sutton naevus therefore appears less appropriate than the alternative eponymic designation "Grünewald naevus".
[Lichen sclerosus et atrophicus of the vulva. Successful local treatment with a potent corticosteroid].
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[Comment on the contribution by S. Pingel: Homeopathy--basic principles and applications in dermatology. A word on homeopathy].
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MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we propose the term MIDAS syndrome. The acronym stands for microphthalmia, dermal aplasia, and sclerocornea. Our patient is the second with this syndrome to have a major congenital heart defect. Cytogenetic studies reported in previous cases indicate that the underlying gene defect can be assigned to Xp22.3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome.
Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism.
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Topical treatment of ichthyoses and Darier's disease with 13-cis-retinoic acid. A clinical and immunohistochemical study.
In a bilaterally paired double-blind comparison study, a cream containing 0.1% 13-cis-retinoic acid (13-cis-RA) and cream base only were applied over 4 weeks in seven patients with non-erythrodermic lamellar ichthyosis (NELI), two patients with Darier's disease and one patient with autosomal dominant ichthyosis vulgaris (ADIV). In two patients with NELI and two patients with Darier's disease a half-side effect was observed in favour of the side treated with 13-cis-RA. In three patients an induction of cytokeratin-4, and in one of these patients expression of cytokeratin-13, were observed after therapy. Topical 13-cis-RA appears to be a promising approach in the treatment of disorders of keratinization. The selective modulation of the cytokeratin pattern may provide an immunohistochemical tool to investigate the mode of action of retinoids.
Treatment of Hailey-Hailey disease by dermabrasion.
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Neurocutaneous disorders in children.
Neurocutaneous syndromes are disorders with cutaneous and neurologic anomalies. Some of these disorders are hereditary. This review summarizes the advances in this field and the recent results obtained in clinical and scientific research on the following syndromes: neurofibromatosis type 1, tuberous sclerosis, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome), Sjögren-Larsson syndrome, trichothiodystrophy, incontinentia pigmenti, CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, Menkes' syndrome, encephalocraniocutaneous lipomatosis, Proteus syndrome, Sturge-Weber syndrome, and so-called hypomelanosis of lto.
An early drawing of Blaschko's lines.
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Klippel-Trenaunay syndrome: is it a paradominant trait?
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Co-occurrence of linear psoriasis and porokeratotic eccrine ostial and dermal duct naevus.
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