R Happle

....

..Like many X-linked diseases, Fabry disease should neither be called recessive nor dominant, because these dichotomous terms are obscured by the mechanism of X inactivation...

..For example, when dermatologists examine a patient with xeroderma pigmentosum they should pay particular attention to such areas of revertant mosaicism...

..On the other hand, the theory of isolated versus superimposed segmental manifestation may help to elucidate the origin of polygenic skin disorders at the molecular level...

..The propensity to develop Spitz naevi appears to be the same in both types of speckled lentiginous naevus, whereas development of malignant melanoma has been reported far more commonly in naevus spilus maculosus...

..Hence, I propose that we should use "capillary malformation" as an umbrella term and not as a name for a specific cutaneous entity...

..Recognizing such cases of superimposed segmental involvement may help elucidate the molecular basis of PM...

..Trichotemnomania is a distinct obsessive-compulsive disorder that should not be confused with trichotillomania. The condition should be taken into account when a supposed alopecia areata looks somewhat unusual...

..163200 and no. 165630). The term 'Schimmelpenning syndrome' is both historically justified and practically sufficient to distinguish this phenotype from other epidermal nevus syndromes...

..The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated...

..In conclusion, linear Cowden nevus, that may also be called "linear PTEN nevus", represents a distinct clinicogenetic entity...

..In the near future, the new paradigm of superimposed segmental manifestation may hopefully help elucidate the molecular basis of both monogenic and polygenic skin disorders...

..For obvious reasons these terms are not suitable to designate any specific type of vascular birthmark such as nevus roseus...

....

....

..When clinicians and dermatohistopathologists have become familiar with this new entity, they will most likely recognize it as a nonsyndromic skin disorder more often than as a cutaneous sign of encephalocraniocutaneous lipomatosis...

....

..This might be accomplished by an anti-CD44v10-triggered impairment of immune cell homing (e.g., CD8+ T cells), resulting in a decrease of their number in target tissues...

..Most likely, the Happle syndrome gene is not lethal for hemizygously affected males but rather similar to the example of epilepsy with mental retardation limited to females, the gene actually spares male gene carriers...

..Although the mechanism of lyonization may give rise to true epidermal nevi such as CHILD nevus, we prefer to classify the present skin lesion as a nevoid disorder and not as an epidermal nevus...

..We conclude that topical treatment with FK506 is able to induce hair regrowth in AA of C3H/HeJ mice, most likely by suppressing the T cell mediated immune response...

..We conclude that non-responders to topical sensitizers tend to have rather pronounced inflammatory reactions with dense perifollicular lymphocytic infiltrates...

..These results indicate that the androgen response of hair follicles depends on a differentiated intrafollicular androgen metabolism and that the dermal papilla might be a primary target in this process...

..Such cases can be taken as examples of "natural gene therapy"...

..Hence, "blue rubber bleb nevus syndrome" can be added to the list of autosomal dominant skin disorders that may sometimes be complicated by a type 2 segmental involvement...

..Heterozygosity for the mutation results in severity corresponding to that in the nonsegmental phenotype; loss of heterozygosity for the same allele causes markedly more severe involvement...

..After patch testing with irritants and allergens, respectively, we found that the ear swelling method is most suitable for evaluating allergic skin reactions, whereas MATEWL is most appropriate for evaluating irritant skin reactions...

..The aim of AGA treatment is to reverse or to stabilize the process of HF miniaturization and with this overview we summarize the present treatment modalities for both men and women...

..Therefore the use of only one or two DP is at present not a reliable tool to analyze 5aR activity ex vivo...

..Genome wide allelic association screening of animal models and genetically related human sibling pairs may be a suitable approach to identifying susceptibility and severity modifying genes for AA...

..The three cases of unilateral arrangement would be difficult to explain without the assumption that multiple nonsyndromic superficial BCC may occur as a distinct mendelian trait...

..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...

....

..Light microscopy of the hair shafts showed split, brush-like ends of otherwise normal hair. We suggest the name trichoteiromania, which means "compulsive rubbing of hair", as a new term to describe hair loss in such cases...

....

..Affected men show various endocrine disorders. Moreover, disturbances of hair growth are frequently mentioned in reports on ALD/AMN...

..This disorder has so far not been recognized as a cutaneous entity...

..We hypothesize that the underlying gene locus is particularly prone to mitotic recombination or other postzygotic mutational events resulting in loss of the corresponding wild-type allele...

..As a prerequisite for such an action CS-891 should be able to inhibit 5aR activity in its target tissue: the hair follicles (HF). Here we report on the capability of CS-891 to inhibit 5aR activity in dermal papillae (DP) of human HF...

..Co-occurrence of aplasia cutis congenita and nevus sebaceus has sometimes been observed...

..The X-ray treatment would have induced LOH in many cells, giving rise to either homo- or hemizygosity for the Cowden mutation...

..According to present knowledge, however, it is very likely that molecular analysis will confirm the described concept that can explain some so far enigmatic features as observed in autosomal dominant genodermatoses...

..Frequent bathing leads to a skin barrier damage with various changes in physiological skin parameters. Conversely, ultraviolet (UV) irradiation may improve the impaired skin barrier by reducing inflammatory reactions...

..Therefore, our findings are consistent with the concept that IL-1alpha, IL-1beta, IL-1-RI and IL-1-RII are involved in the control of catagen development...

..However, it is time-consuming and in some cases ineffective, making it desirable to develop new, more specific forms of treatment...

..In contrast to hypomelanosis of Ito which is associated with many different forms of genetic mosaicism, phylloid hypomelanosis most likely represents a cytogenetically rather uniform neurocutaneous phenotype...

..These results demonstrate the improvement in reduction of skin irritation achieved by development of novel detergents...

..This linear lesion may be best explained as a type 2 segmental manifestation of the disorder, which would imply that kerinokeratosis papulosa is inherited as an autosomal-dominant trait...

..The results suggest that the Fas/Fas ligand pathway plays an important pathogenetic role in alopecia areata...

....

..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...

....

..For the first time, two formulae for adjusting TEWL values according to climatic conditions are presented. It is possible with these formulae to compare between a measured TEWL value and a calculated value...

....

..We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis...

....

..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...

..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...

..We conclude that telangiectases occur at an earlier age than generally thought and are a hallmark of a serious disorder rather than a cosmetic problem...

..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...

..The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN...

..Hence, in sensitized atopic subjects the combined effect of aeroallergens and detergents may cause severe skin problems, and this may be relevant in daily practice...

....

..Future studies may show whether the concept of type 2 segmental Darier disease can be confirmed at the molecular level...

..On the other hand, a significant mechanism in the origin of many forms of cancer is loss of heterozygosity or allelic loss...

..Patients suffer from an inflammatory nevus that covers large areas, predominantly of one side of the body, with a sharp midline demarcation. Treatment of CHILD nevus is notoriously difficult...

..Moreover, Sachs presented in this article a comprehensive description of verruciform xanthoma, thus anticipating Shafer's "first report" of this histopathological phenomenon (1971) by almost 70 years...

..Speckled lentiginous nevus syndrome represents a mosaic phenotype. Most likely it originates from loss of heterozygosity occurring in a heterozygous embryo at an early developmental stage...

..Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations...

..To our knowledge, no other report is so far available concerning GA-I complicated by skin eruptions...

..Future case reports may help to delineate further the significance of this relationship...

..The disorder is caused by mutations in the HPS1 gene on chromosome 10q23. The HPS1 gene product is involved in the trafficking of melanosomes, platelet dense bodies, and lysosomes...

..This paradoxical phenomenon has so far been underestimated, and the presence of circumscribed lesions of dermal hypoplasia has been entirely ignored...

..CONCLUSIONS: Macular SLN and papular SLN appear to be two distinct cutaneous entities. This dichotomy may turn out to be important when such nevi will be analyzed at the molecular level...

..Klippel-Trenaunay syndrome is defined by a coexistence of nevus flammeus and overgrowth of one or more limbs. Remarkably, however, deficient growth of an affected limb may likewise be noted...

..Venous malformations are common vascular anomalies which only occur sporadically...

..For this peculiar disorder, we propose the term 'nevus marginatus'. So far it is not clear whether nevus marginatus represents a distinct entity or merely an unusual clinical variant of nevus sebaceus...

..This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life...

..This concept may explain the occasional familial occurrence of CMTC...

..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...

..After a 48 hrs patch test with SLS 0.5% TEWL measurement should be performed at 72 hrs. A value of < or =31.6 g/m(2)hr seems to follow the normal distribution...

..Hidradenitis suppurativa is a chronic inflammatory skin disease involving the axillary, inguinal and anogenital regions and sometimes, in addition, the submammary or sacral areas. The etiology of this condition is unknown...

..The system of Blaschko's lines has been insufficiently documented on the head and neck...

..It is also unknown, whether she owes her position as a chambermaid to her gigantism, for it was a common use in courts to have people with abnormal body shapes in attendance...

..This combination of vascular and pigmentary abnormalities may represent a novel type of phacomatosis pigmentovascularis caused by non-allelic twin-spotting...

....

..Consequently, we propose for this new organoid nevus the names "trichilemmal cyst nevus" or "nevus trichilemmocysticus."..

..They provide animal models for the study of CHILD syndrome, a further human condition due to mutations in a gene of the cholesterol synthesis pathway...

..This underscores the possibility of early diagnosis of immune-mediated diseases in patients with multiple eruptive dermatofibromas...

..This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes...

..If this concept holds true, the present case may be described as " didymosis melorheosebacea "...

..The term "phacomatosis pigmentovasculosebacea" is proposed to describe the concurrence of these multiple nevi derived from pigmentary, vascular and epithelial cells...

..This unusual association may be considered a further example of didymosis, for which we propose the term, didymosis aplasticopsilolipara...

..Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21...