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Rudolf Happle

Publications and source records attributed to Rudolf Happle.

At least 73 records · Page 4Linked to original sources
PubMed2002

Transposable elements and the lines of Blaschko: a new perspective.

BACKGROUND: Transposable elements or retrotransposons are particles of retroviral origin that are interspersed in large numbers in the genome of plants and animals. They may affect the activity of adjacent genes by methylation or demethylation, resulting in silencing or activation of gene expression. In animals such as mice or dogs, retrotransposons may give rise to phenotypic variation in the form of variegated coat patterns reminiscent of the lines of Blaschko as observed in human skin. OBJECTIVE AND METHODS: Because the human genome does likewise contain large amounts of retrotransposons, it is conceivable that these elements may cause similar skin lesions in human skin. The group of genodermatoses following the lines of Blaschko was therefore screened for phenotypes suggesting such an epigenetic origin. RESULTS: As possible examples, the inflammatory linear verrucous epidermal nevus as well as cases of pigmentary mosaicism arranged in hypermelanotic or hypomelanotic streaks following the lines of Blaschko may be taken into consideration. Such phenotypes usually occur sporadically but may affect, by way of exception, several members of a family. CONCLUSION: These linear skin disorders would possibly visualize the action of a transposable element that is partly expressed and partly silenced at an early developmental stage.

Animals↗
PubMed2002

Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting.

For the first time, we describe a case of type 2 segmental Darier disease with concomitant band-like areas of healthy skin. This clinical observation gives a further hint for the understanding of type 2 segmental manifestations in autosomal dominant diseases. We had observed a 17-year-old patient with Darier disease since the age of 13 years. On the frontal aspect of his body, the lesions were found to be diffusely and rather symmetrically disseminated. On the back, however, a band-like pattern of pronounced involvement with concomitant streaks of healthy skin, both following the lines of Blaschko, was noted. Type 2 segmental manifestation of autosomal dominant disorders can be explained by the assumption that the individual carries a germline mutation that gives rise to a diffuse, nonsegmental distribution of the disease. In addition, a postzygotic mutation occurring at an early developmental stage would result in loss of heterozygosity and give rise, in a segmental area, to a homozygous or hemizygous state of the mutation. This would explain the enhanced severity of the segmental lesions. Theoretically, an early event of mitotic recombination should give rise, simultaneously, to a clone of cells that are homozygous for the corresponding wild-type allele, and for this reason paired segmental areas of either excessive or absent involvement, in the form of twin spotting, should occur on the background of an ordinary, nonsegmental phenotype, as exemplified by Happle and König in a case of epidermolytic hyperkeratosis of Brocq. These authors stated that, in autosomal dominant skin disorders, segmental areas of healthy skin will usually be difficult to recognize. This may explain why such a twin spot phenomenon has so far not been encountered in Darier disease.

Acitretin↗
PubMed2002

Epidermal nevi.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMedDate not supplied

Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis.

Harlequin ichthyosis is a rare and severe congenital erythrodermic ichthyosis characterized at birth by hyperkeratotic plates covering the entire body, ectropion, eclabium, poorly developed ears, and contractures of the hands and feet. Two Chinese children, a 2-year-old boy and an 11-year-old girl, presented with these classic features as well as alopecia and loss of eyebrows and eyelashes. The boy was small for his age and was found to have hypothyroidism at the age of 18 months; he is currently on thyroxine replacement therapy. At 6 years of age, the girl developed symmetrical polyarthritis associated with positive rheumatoid factor and radiologic evidence of erosive arthritis, suggestive of juvenile rheumatoid arthritis. She received prednisolone, nonsteroidal anti-inflammatory drugs (NSAIDs), and subsequently methotrexate for her arthritis, with clinical and radiologic improvement. Early therapy with oral retinoids in both children accelerated shedding of the hyperkeratotic plates as well as improved ectropion and eclabium. There was no major adverse reaction to oral retinoids. The development of juvenile rheumatoid arthritis in survivors with harlequin ichthyosis has not been previously described. The use of prednisolone and NSAIDs in the girl did not affect the skin condition, but the addition of methotrexate led to a decrease in erythema. The association with autoimmune disease is probably coincidental. The psychosocial impact of this severe lifelong disease on the two families was enormous. Early retinoid therapy may improve the disorder and help increase survival rates. A multidisciplinary approach, including psychosocial support of the affected families, is vital in the management of this lifelong disease.

Acitretin↗
PubMedDate not supplied

Nevus psiloliparus and aplasia cutis: a further possible example of didymosis.

Nevus psiloliparus is a distinct type of mesodermal nevus of the scalp characterized by absence or paucity of hair, and presence of an excessive amount of fatty tissue. It is considered a hallmark of encephalocraniocutaneous lipomatosis, a rare disorder comprising a variety of cutaneous, ophthalmologic, and neurologic defects. We report two infants with encephalocraniocutaneous lipomatosis with nevus psiloliparus on the scalp in close association with aplasia cutis congenita. This unusual association may be considered a further example of didymosis, for which we propose the term, didymosis aplasticopsilolipara.

Adipose Tissue↗
PubMedDate not supplied

Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype.

Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various neurological abnormalities incompatible with Schimmelpenning syndrome, such as hyperhidrosis, muscular weakness and dysesthesia. This second component of phacomatosis pigmentokeratotica may likewise occur separately. For the association of speckled lentiginous nevus with hyperhidrosis, muscular weakness, dysesthesia or other neurological abnormalities, the term "speckled lentiginous nevus syndrome" is proposed. Some case reports that may be categorized as examples of this new syndrome are reviewed. The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype.

Cafe-au-Lait Spots↗
PubMedDate not supplied

Diphencyprone immunotherapy alters anti-hair follicle antibody status in patients with alopecia areata.

Alopecia areata (AA) is a relatively common reversible hair loss disorder usually manifesting as patchy areas of complete hair loss on the scalp and other body parts that can progress to complete loss of all body hair. This condition is now generally assumed to be an autoimmune disease with the hair follicle (HF) as the principal target tissue. AA may be passively transferred by T cells and there is some evidence that serum IgG may also disturb hair cycling. Here, we examine whether the status of anti-HF antibody reactivity is altered during hair regrowth associated with topical immunotherapy using the contact sensitizer diphencyprone. Eleven patients with severe AA of the scalp were treated with diphencyprone on one side of the scalp and serum was obtained from each patient before the start of therapy, after unilateral hair regrowth, during continuing hair regrowth and in some cases after complete and sustained regrowth. The presence and titer of circulating antibodies to HF was assessed by indirect immunofluorescence and immunoblotting analysis. A striking reduction was detected in both the titer and range of HF components/antigens targeted by anti-hair follicle IgG antibodies in those patients that exhibited complete and sustained hair regrowth after DCP-treatment. By contrast, unilateral hair regrowth was associated with no change, or even an increase, in anti-HF antibody titer and reactivity. Therefore we can conclude that the down-regulation of antibody reactivity is likely to be a result rather than the cause of hair regrowth induction by topical immunotherapy. As this immunotherapy is associated with a reduction in the titer/pattern of anti-HF antibodies, these may hold the key to the identity of the HF antigen targets in AA. Moreover, the presence/titer of anti-HF antibodies may be a marker of clinical disease activity or opportunity for spontaneous regrowth.

Administration, Topical↗
PubMedDate not supplied

Skin changes in geriatric nurses prior to training heralding a particular risk of hand dermatitis.

Irritant skin changes are a well known problem in nursing services. Especially geriatric nurses often complain of hand dermatitis, most likely induced by frequent washing and hand disinfections. In this cohort study, demographic data and skin changes from 521 nurse trainees were recorded. The data of geriatric nurse trainees (n = 149) were compared to that of other nurse trainees (n = 372), mostly of surgery, internal medicine, pediatric and obstetrics. Geriatric nurse trainees were significantly older and had noticeably severer irritant skin changes at the start of the training. Geriatric nurse trainees were more often undergoing retraining, because they had other jobs before. Interestingly, some nurses performed the retraining because they had problems with hand dermatitis in their previous job. More education concerning the risk of irritant dermatitis in health care occupations is desirable, not only for the starting nurse but also for the employment offices.

Adult↗
PubMedDate not supplied

Nevoid hypertrichosis and hypomelanosis.

A girl with multiple lesions of nevoid hypertrichosis and linear hypopigmentation following Blaschko's lines is presented. She had no extracutaneous anomalies. We hypothesize that this unusual coexistence of skin lesions may represent a further example of "twin spotting".

Biopsy, Needle↗
PubMedDate not supplied

Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea).

We report an unusual case of unilateral melorheostosis and ipsilateral extensive sebaceous nevus. Because the two conditions affected the same side of the body, we hypothesize that they originated from a common genetic mechanism. The temporal and spatial co-occurrence may represent a further example of non-allelic didymosis (twin spotting). The embryo would carry two different recessive mutations at one gene locus or at linked loci on either of a pair of homologous chromosomes. Postzygotic recombination occurring during early embryonic development would result in two different populations of cells homozygous for either mutation. If this concept holds true, the present case may be described as " didymosis melorheosebacea ".

Adult↗
PubMedDate not supplied

Phacomatosis pigmentovasculosebacea: an unusual case of phacomatosis multiplex.

A 13-year-old Taiwanese boy had an unusual combination of nevus fuscocoeruleus, large café-au-lait macules, nevus achromicus, large telangiectatic nevi and systematized nevus sebaceus. The term "phacomatosis pigmentovasculosebacea" is proposed to describe the concurrence of these multiple nevi derived from pigmentary, vascular and epithelial cells.

Adolescent↗
PubMedDate not supplied

Familial cutis tricolor: a possible example of paradominant inheritance.

Cutis tricolor is a recently described skin disorder characterized by the coexistence of congenital hyper- and hypopigmented macules adjacent to each other on a background of normal skin. It has been considered to represent an example of didymosis (twin spotting), which is a particular form of loss of heterozygosity. Cutis tricolor may occur as a cutaneous feature of various multisystem birth defects. We report two sisters with cutis tricolor. One of them had, in addition, unilateral hypoplasia of the breast. This familial occurrence of cutis tricolor may best be explained by the concept of paradominant inheritance. 2003.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital triangular alopecia may be categorized as a paradominant trait.

The genetic basis of congenital triangular alopecia (CTA) is so far not clear. The following arguments are presented in favor of the notion that this may be a paradominant trait. CTA usually occurs sporadically but may exceptionally affect several members of a family. The lesion is usually unilateral but bilateral involvement may likewise occur. CTA has been reported in association with phacomatosis pigmentovascularis, providing evidence that it may originate from loss of heterozygosity. Heterozygous individuals would be phenotypically normal. The trait would be expressed only when postzygotic loss of the corresponding wildtype allele occurred in a early developmental stage. Future molecular research may show whether the concept of paradominant inheritance holds true.

Alopecia↗
PubMedDate not supplied

Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss.

Large congenital melanocytic nevi have so far always been considered to occur sporadically, and until now little has been written about a possible role of heredity as a cause of this disorder. We reviewed familial cases of large congenital melanocytic nevi as reported in the literature and found 14 case reports with a family history of congenital nevi. We propose the concept of paradominant inheritance as a possible genetic explanation. The concept would imply that heterozygous individuals are phenotypically normal which is why the mutation would be transmitted unperceived through many generations. The trait would become manifest only when loss of heterozygosity occurred at an early developmental stage, giving rise to a patchy area of homozygous or hemizygous cells. This would explain why the lesions of large congenital melanocytic nevi are always arranged in a mosaic pattern; why they occur virtually always sporadically; and why the exceptional cases of a familial aggregation of this trait do not show any consistent Mendelian pattern.

Female↗
PubMedDate not supplied

Extensive speckled lentiginous nevus associated with giant congenital melanocytic nevus: an unusual example of twin spotting?

A 15-year-old boy had an unusual combination of giant congenital melanocytic nevus on his back and a large speckled lentiginous nevus arranged in a checkerboard pattern on the dorsal and lateral aspects of his trunk. The two pigmentary nevi showed distinguishing features both clinically and histopathologically. The speckled lentiginous nevus was not noted at birth but became visible during childhood. We hypothesize that this uncommon co-occurrence may represent a further example of twin spotting and may be categorized as a new, distinct type of phacomatosis.

Adolescent↗