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This is a report of the research presented at the 11th Annual Meeting of the International Pachyonychia Congenita Consortium, held on 6 May 2014 in Albuquerque, NM, U.S.A. This year's meeting was divided into five corners concerning pachyonychia congenita ( PC) research: (i) ' PC Pathogenesis Cornered', an overview of recent keratin research, for PC and other skin disorders; (ii) ' From All Corners of ...', an outline of other genetic disorders that we can learn from; (iii) ' Fighting For Our Corner', an outline of National Institutes of Health/ National Institute of Arthritis and Musculoskeletal and Skin Diseases programmes and U. S. funding opportunities applicable to rare skin disorders; (iv) 'The PC Corner', focusing on recent clinical studies related to PC; and (v) 'Clinical Corners: Turning the Corner?', an update on ongoing PC clinical trials. [ABSTRACT FROM AUTHOR]

Ig A pemphigus ( IGAP) is a rare, distinct variant of pemphigus, currently classified, depending upon the histological features, immunofluorescence staining pattern and autoantibody profile, into two types: subcorneal pustular dermatosis ( SPD) and intraepidermal neutrophilic Ig A dermatosis. In a patient with a widespread blistering disease of the skin resembling SPD-type IGAP, we demonstrate the coexistence of Ig A reactivity to both epidermal (desmocollins 2 and 3) and basement membrane-associated ( BP180) proteins, suggesting the coexistence of atypical IGAP and linear Ig A bullous dermatosis, respectively. This case, together with 20 previous reports of atypical IGAP, underscores the limitations of current classification schemes. Therefore, we suggest reclassifying these cases under the general term ' IGAP spectrum'. [ABSTRACT FROM AUTHOR]

Background Pachyonychia congenita ( PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Objectives To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry during the last few years. Methods Genomic DNA isolated from saliva or peripheral blood leucocytes was amplified using primers specific for the PC-associated keratin genes and polymerase chain reaction products were directly sequenced. Results Mutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105. Conclusions By identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families. [ABSTRACT FROM AUTHOR]

Background Kindler syndrome ( KS) is a rare autosomal recessive skin disorder, which was recently reclassified as a subtype of epidermolysis bullosa. Despite the fact that loss-of-function mutations in the FERMT1 gene, encoding kindlin-1, have been shown to cause the syndrome in numerous patients, a small number of typical cases of KS in which FERMT1 mutations could not be identified has raised the possibility that the disorder may be genetically heterogeneous. Aim To assess two highly consanguineous families with clinical characteristics of KS. Results In the first family, a hitherto unreported deletion (c.137-140del TAGT) in FERMT1 was detected, which is predicted to lead to premature termination of translation. However, direct sequencing of the coding region of FERMT1 failed to disclose any pathogenic change in the second family. To confirm the possibility that the disease in this family may be due to a mutation in another gene, we used homozygosity mapping, and found that all affected family members share a segment of homozygosity on 20p12.3, spanning the FERMT1 gene. Accordingly, a large and highly unusual deletion (g.-711-1241del) spanning the putative FERMT1 promoter sequence and the first noncoding exon of the gene was found to cosegregate with the disease phenotype in this family, and to prevent transcription of the gene, as attested by the lack of FERMT1 message in the skin of a patient. Conclusion The present data provide evidence in support of genetic homogeneity in KS. [ABSTRACT FROM AUTHOR]

Background Palmoplantar keratoderma punctata ( PPKP) is a heterogeneous group of disorders characterized by hyperkeratotic papules occurring over the palms and soles during adolescence. PPKP type 1, also known as PPKP Buschke- Fischer- Brauer type, was recently found to result from mutations in the AAGAB gene, encoding the p34 protein. PPKP type 1 is usually not associated with extracutaneous features. Aim To investigate a large family in which PPKP1 was present in association with congenital dysplasia of the hip ( CDH). Methods A combination of direct sequencing of candidate genes and reverse-transcription PCR was used to identify the molecular basis underlying the clinical features displayed by the patients. Results Direct sequencing showed a novel intronic mutation in AAGAB, which was found to cosegregate with PPKP and CDH throughout the family. The mutation was found to result in aberrant RNA splicing, leading to exon 4 skipping. Conclusions This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. [ABSTRACT FROM AUTHOR]

Background Numerous therapeutic modalities have been proposed to treat the manifestations of pachyonychia congenita ( PC). While research hopes lie with molecular therapies, patients are in need of answers regarding the efficacy of conventional treatments. Aim of the study To determine patients' experience and preferences regarding conventional treatments for PC. Methods The study population included 120 PC patients from 20 countries. The study was based on a patient survey developed by physicians and researchers from the International Pachyonychia Congenita Consortium and conducted via the internet. Using an effectiveness scale of 1 to 5, the patients were asked to grade treatments for different manifestations, including keratoderma, cysts, follicular hyperkeratosis, fingernail and toenail involvement. Results Patients reported surgical treatments being most effective for cysts and mechanical treatments the most effective conventional therapeutic approach for all other investigated manifestations. The other conventional medical treatments were found to be non-effective to only slightly effective. Among patients with keratoderma, older people were more likely to report beneficial effect from mechanical treatments ( P = 0.04), topical retinoids ( P = 0.04) and topical steroids ( P = 0.02). Likewise, females were more inclined to report filing and grinding beneficial than males ( P = 0.02). Finally, carriers of KRT16 and KRT6a were more likely to benefit from keratolytics than carriers of mutations in KRT17 ( P = 0.04). Conclusions None of the currently available therapeutic options for PC are ideal, although they provide some relief, with mechanical/surgical options being preferred over medical therapies. These results emphasize the need for more efficient and targeted therapies. [ABSTRACT FROM AUTHOR]

Background Autonomic neuropathy, a relatively common complication of several chemotherapy agents, can affect the vagus nerve and its pain inhibitory capacity, thus increasing sensitivity to pain. This study aimed to evaluate the relationships between autonomic parasympathetic function and the perception of (1) spontaneous pain; (2) experimental non-painful sensations; and (3) experimental painful sensations in chemotherapy-induced neuropathy patients. Methods Twenty-seven cancer patients with chemotherapy-induced polyneuropathy were enrolled (20 women, age 56.6 ± 7.9). Autonomic parameters of heart rate variability, deep-breathing and Valsalva ratios, experimental non-painful parameters of warm, cold and mechanical detection thresholds, and painful parameters of heat pain thresholds, pain rating of suprathreshold stimulus, mechanical temporal summation and conditioned pain modulation response were examined. Results Autonomic parameters and spontaneous pain levels were not associated, yet autonomic parameters were positively correlated with non-painful sensations - milder autonomic neuropathy was accompanied by milder sensory neuropathy as indicated by several parameters, e.g., lower Valsalva ratio was correlated with higher warmth detection threshold ( r = −0.465; p = 0.033). Autonomic parameters were, however, negatively correlated with painful sensations - lower parasympathetic-vagal activity was associated with higher pain sensitivity as indicated by several parameters, e.g., lower Valsalva ratio was correlated with higher pain rating of suprathreshold stimulus ( r = −0.559; p = 0.008). Conclusions Diminished vagal function due to neuropathy is associated with, and may possibly underlie, pain disinhibition expressed as greater levels of experimental pain. [ABSTRACT FROM AUTHOR]

Background and purpose Reduced endogenous pain inhibition, as part of the degenerative process, is presumed to be the mechanism underlying the common presence of pain in patients with Parkinson's disease ( PD). The present study aimed to assess an endogenous pain inhibitory system in PD using the conditioned pain modulation paradigm. Methods Twenty-six predominantly unilateral PD patients and 19 controls underwent psychophysical pain assessment before and after patients' morning dopaminergic medication. Results An unexpected increase in several parameters of pain perception for PD patients was found after dopaminergic medication (e.g. for 49°C noxious heat stimulation an increase from 70.6 ± 4.0 to 77.6 ± 4.0 on the numerical pain scale, P < 0.001). This increase was seen in patients with predominantly left-sided PD, regardless of the stimulated side (for 49°C noxious heat stimulation, predominantly left-sided PD patients, pain perception increased from 73.5 ± 6.8 to 85.0 ± 6.8, P < 0.001, whereas predominantly right-sided PD patients did not show a significant increase, 68.3 ± 6.8 to 70.4 ± 6.5, P = 0.777). Baseline efficiency of conditioned pain modulation inversely correlated with age at disease onset ( r = −0.522; P = 0.009) and disease severity (Unified PD Rating Scale, r = 0.447; P = 0.032) but did not differ between patients and controls. Conclusions Increased sensory response causing hyperalgesia occurs after dopaminergic medication in patients with predominantly left-sided PD. [ABSTRACT FROM AUTHOR]

Epidermolytic palmoplantar keratoderma ( EPPK) is caused by mutations in KRT9 and less often, KRT1. All known mutations in KRT9 have been found in regions of the gene encoding the conserved central α-helix rod domain. In the present study, we investigated the molecular basis of EPPK in a patient of Ashkenazi Jewish origin. The patient was found to carry a novel missense mutation in KRT9, resulting in the substitution of a poorly conserved leucine for valine at position 11 of the amino acid sequence. Despite its unusual location, the mutation was shown to be pathogenic through activation of a cryptic donor splice site, resulting in the deletion of 162 amino acids. The present data indicate the need to screen keratin genes in their entirety, as mutations altering domains of lesser functional importance may exert their deleterious effect at the transcriptional level. [ABSTRACT FROM AUTHOR]

The significance of low-intensity microembolic signals (MES), as well as their relationship with high-intensity MES, has not yet been studied. We monitored MES by TCD in 256 arteries of 229 patients with carotid stenosis. All microemboli were detected automatically without a preliminary set threshold. For those 110 patients who evidenced any emboli, the correlation between the number of high- and low-intensity MES was r = 0.50, p < 0.0001. A statistically significant relationship between both types of MES was found, with a degree of association of 0.42, as assessed by Cohen's kappa. Later occurrence of high-intensity MES based on early low-intensity MES was statistically significant, with a chi-square p = 0.0006 and a degree of association of 0.24, as assessed by Cohen's kappa. There is a significant relationship between low- and high-intensity MES, thereby indicating that many MES routinely rejected because of their low intensity are real. [ABSTRACT FROM AUTHOR]

Background: The transient ischaemic attack (TIA) is accepted as a subtype of resolved ischaemic stroke. In that case, the risk factor profiles as well as the work-up results of TIA and stroke patients should be similar in both groups. Given that such data are limited, we compared the risk factor profiles and work-up results in young and middle-aged patients with TIA and ischaemic stroke. Patients and methods: Data on 167 TIA patients and 489 stroke patients aged ≤60 were compared for risk factor profiles, work-up results, and pre- and post-event treatment regimens. Results: The only difference found between the groups in the distribution of vascular risk factors was a significantly higher prevalence of diabetes in the stroke group ( P = 0.02). There were no differences found between the two groups in the distributions of carotid and aortic plaques, carotid stenoses and occlusion, homocysteine levels, or frequencies of patient foramen ovale by echocardiography. The levels of cholesterol and triglycerides, as well as abnormal brain CT, were higher in the stroke group, both before and after adjustment. There was no difference found in any compared parameter of treatment between the TIA and the stroke patients. Conclusions: The risk factor profiles and the work-up results are similar between the TIA and the stroke patients. These findings highlight the etiologic homogeneity of both conditions; therefore, justify their uniform management. In addition, low yield of CT in TIA patients was found, questioning thus the routine use of CT in work-up of TIA. [ABSTRACT FROM AUTHOR]

Abstract: Background and purpose: This study aimed to investigate the embolic potential of carotid plaques, employing both the presence and the rate of micro-embolic signals (MESs), based on the presence and timing (current or past) of symptoms, degree of stenosis and ultrasonic characteristics of plaques. Methods: We used the transcranial Doppler (TCD) to monitor MES and the Doppler ultrasound to classify carotid plaques in newly symptomatic (acute stroke or transient ischaemic attack (TIA)), formerly symptomatic (relevant stroke or TIA per anamnesis) and asymptomatic patients with internal carotid artery (ICA) stenosis. Results: Stroke-related arteries evidenced a significantly greater presence of MES than the TIA-related and asymptomatic arteries (p =0.04), with no significant difference found between the latter two groups (stroke: 42/90, 46.7%; TIA: 15/49, 30.6%; asymptomatic: 40/130, 30.8%). Adjustment for anti-platelet treatment did not change this finding. The degree of stenosis, ultrasonic characteristics of texture and the density of plaques were not found to be associated with the presence or quantity of MES. Conclusion: MESs are present significantly more often in stenosed, stroke-related carotid arteries as compared with TIA-related or asymptomatic arteries. Neither the ultrasonic characteristics nor the degree of stenosis were found to influence the presence or rate of MES. [Copyright &y& Elsevier]

PURPOSE: Foot drop is a common cause of gait impairment in individuals with hemiparesis. The objective of this study was to determine the short-term and long-term effects on functional gait of a neuroprosthesis that provides functional electrical stimulation (FES) to correct footdrop. METHODS: Sixteen individuals (mean age, 55.0 +/- 14.6 years) with chronic hemiparesis (mean years since insult, 5.3 +/- 4.8) were assessed immediately before receiving the neuroprosthesis and two months and one year after using the device. Both follow-up assessments were conducted with FES operating; the one-year follow-up also assessed gait without FES. Outcome measures were gait velocity on an even surface during a 10-m walk, during a six-minute walk, over obstacles, and over a carpet. Foot switches used during the six-minute walk determined stance time, stride time variability, and gait asymmetry. The effect of time and the one-year carryover effect on gait without FES were determined, with significance set at P = 0.05. RESULTS: The neuroprosthesis had a significant short-term and long-term effect on most measured variables. Thus, mean 10-m walk gait velocity improved in two months from 0.67 m/sec to 0.86 m/sec and continued to increase to 1.06 m/sec by the one-year assessment. A carryover effect on gait velocity and stance time without FES were also noted. The 10-m gait velocity without the neuroprosthesis increased by 23.8% by the one-year follow-up assessment. CONCLUSIONS: The neuroprosthesis appears to improve gait performance, and gains were further enhanced over time and carried over to gait even without FES. These results suggest orthotic and therapeutic effects on footdrop after prolonged use of the neuroprosthesis. [ABSTRACT FROM AUTHOR]

Background. Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. Methods. Three families with nine affected members were assessed using a candidate gene-based screening approach. Results. In all three families, new heterozygous mutations were found in DSG1. Conclusion. Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1. [ABSTRACT FROM AUTHOR]

Multiple studies have supported the usefulness of standardized low-resolution brain electromagnetic tomography (sLORETA) in localizing generators of scalp-recorded potentials. The current study implemented sLORETA on pain event-related potentials, primarily aiming at validating this technique for pain research by identifying well-known pain-related regions. Subsequently, we pointed at investigating the still-debated and ambiguous topic of pain intensity coding at these regions, focusing on their relative impact on subjective pain perception. sLORETA revealed significant activations of the bilateral primary somatosensory (SI) and anterior cingulate cortices and of the contralateral operculoinsular and dorsolateral prefrontal (DLPFC) cortices (P < .05 for each). Activity of these regions, excluding DLPFC, correlated with subjective numerical pain scores (P < .05 for each). However, a multivariate regression analysis (R = .80; P = .024) distinguished the contralateral SI as the only region whose activation magnitude significantly predicted the subjective perception of noxious stimuli (P = .020), further substantiated by a reduced regression model (R = .75, P = .008). Based on (1) correspondence of the pain-activated regions identified by sLORETA with the acknowledged imaging-based pain-network and (2) the contralateral SI proving to be the most contributing region in pain intensity coding, we found sLORETA to be an appropriate tool for relevant pain research and further substantiated the role of SI in pain perception. PERSPECTIVE: Because the literature of pain intensity coding offers inconsistent findings, the current article used a novel tool for revisiting this controversial issue. Results suggest that it is the activation magnitude of SI, which solely establishes the significant correlation with subjective pain ratings, in accordance with the classical clinical thinking, relating SI lesions to diminished perception of pain. Although this study cannot support a causal relation between SI activation magnitude and pain perception, such relation might be insinuated. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate cerebral hemodynamics before and after carotid angioplasty and stenting (CAS) using transcranial Doppler (TCD). Methods: Sixty-eight patients (52 men; mean age 69+/-9.5 years) with severe carotid stenosis (83.4%+/-10.2%) were examined by TCD before and 2 months after CAS. Thirty-two (47%) patients had primary carotid stenosis and 36 (53%) had restenosis after carotid endarterectomy (CEA). A broad TCD protocol was employed to estimate cerebral hemodynamics, including assessment of velocities (V) and asymmetry of cerebral blood flow velocity (CBFV) in the middle cerebral artery, (MCA) anterior cerebral artery (ACA), and basilar artery (BA); the pulsatility indexes; and flow acceleration. Results: Ipsilateral MCA mean velocities before stenting were 46.3+/-12.6 cm/s in the primary stenosis group and 47.1+/-12.3 cm/s in restenosis group; after stenting, the velocities were 53.8+/-12.1 and 52.7+/-9.6 cm/s, respectively (p<0.005 for both groups). MCA asymmetry by Vmean before CAS was higher in the primary stenosis group (27.6%+/-2.4% versus 19.8%+/-2.3%, p<0.05). After stenting, this index was significantly lower in both groups: 16.4%+/-2.4% and 12.3%+/-2.3%, respectively (p<0.0001 for each group). All other TCD parameters improved significantly in both groups after CAS as well (p<0.05), showing the strong hemodynamic effect of this procedure. Conclusion: CAS effectively improves cerebral hemodynamics in patients with severe primary and restenosis of the internal carotid artery. [ABSTRACT FROM AUTHOR]

Objective: The Israeli Yemenite Jewish community has displayed an exceptionally rapid increase in the frequency of type 1 diabetes, having the highest rate of all Israeli ethnic groups. We studied the role of the environment, in relation to the nature and frequency of HLA class II genes, to evaluate its possible involvement in the development of diabetes.Research Design and Methods: We interviewed 196 elderly Yemenite women, who had immigrated to Israel as adults, in programmed encounters about signs and symptoms of type 1 diabetes, infant feeding customs, and infectious diseases in Yemen. We also performed HLA oligotyping of DRB1, DQA1, and DQB1 genes in 120 unrelated Yemenite Jews, including 44 type 1 diabetic patients and 76 healthy control subjects, and used these data in correspondence analysis comparing Yemenites with different Israeli ethnic groups.Results: Interviews indicated that early exposure to cow's milk was very common in Yemen. However, none of the women could recall classical presentations of diabetes. HLA oligotyping showed that gene frequencies of non-Asp-57 (of the HLA-DQB chain) in the patients (0.94) and control subjects (0.6) were similar to those of other populations with a known high incidence of type 1 diabetes. Correspondence analysis revealed that Yemenite Jews are genetically distinct from other ethnic groups in Israel.Conclusions: The genetic distinctiveness of Yemenite Jews may explain their unusually high incidence of type 1 diabetes in Israel. Despite the presence of highly susceptible diabetogenic HL4 class II genes in this community, early exposure to cow's milk did not cause phenotypic expression of diabetes in Yemen. This finding suggests that in this population, either cow's milk does not play a crucial role in triggering diabetes, or environmentally conferred protection, such as frequent infectious disease in Yemen, was dominant. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 49-year-old man with skin abnormalities and nail dystrophy, who was diagnosed to have Dyskeratosis congenita (DC), a multisystem inherited syndrome with clinical and genetic heterogeneity. Topics include patient's consent to perform genetic studies, the diagnosis of DC, and mortality factors like bone marrow (BM) failure, lung disease and the risk of cancer. Also mentioned are lack of hematological manifestation and rarity of blisters in DC.

The article describes the case of a 33-year-old-man with a history of rheumatoid arthritis who presented with asymptomatic brown patches and linear skin lesions on the trunk and extremities. Topics covered include the presence of epidermolytic changes in two lesions, the association of lentigo simplex, linear epidermolytic naevus and naevus comedonicus caused by a somatic heterozygous mutation in KRT10, and the similarity of the case with a case under phakomatosis pigmentokeratotica (PPK).

Mice homozygous for three different recessive mutations known to cause pleiotropic defects in the immune system and in the skin were used to evaluate the relationship between the classical immune system and dendritic epidermal cell populations. Numbers of Langerhans cells (LCs) and Thy-1 dendritic cells (Thy-1DEC) were determined using indirect immunofluorescence microscopy of epidermal whole mounts taken from viable motheaten ( me), nude ( nu), and rhino ( rh) mice. All mutants were maintained on the C57BL/6J strain background and were compared with their respective littermate normal controls. Viable motheaten mice had normal numbers of LCs at 1 month of age. However, by 8 weeks of age, LC density had decreased threefold. Nude and rhino mice had normal numbers of LCs at all ages tested. There was no significant effect of the viable motheaten mutation on numbers of Thy-1DEC. Although nude mice showed normal numbers of Thy-1 DEC at 1 month of age, these athymic mice had a threefold decrease in numbers of such cells by 6 months. In contrast to the reduced numbers of Thy-1DEC seen in nude mice, rhino mice showed a four- to fivefold increase in the numbers of these epidermal cells at all ages tested. These findings suggest new mouse models for investigating the development, regulation, and biological properties of epidermal dendritic cell populations. [ABSTRACT FROM AUTHOR]

Interleukin-1, tumour necrosis factor-α and interleukin-6 are considered to be major mediators of inflammatory processes. In the present study, cytokine gene transcription was detected by the polymerase chain reaction technique during cutaneous and intraperitoneal infection with herpes simplex virus-1. Epidermal cell suspensions obtained from mice infected with herpes simplex virus-1 in the ear pinna were enriched or depleted in Langerhans cells by immunomagnetic fractionation. Herpes simplex virus-1 infection in the skin was found to induce interleukin-1β, tumour necrosis factor-α and interleukin-6 gene transcription in keratinocytes at 24 hours post-infection. Gene transcription declined by 48 hours post-infection. Induction of interleukin-1β and tumour necrosis factor-α but not of IL-6 gene transcription was detected in Langerhans cells obtained from infected mice at 24 hours post-infection. In order to study cytokine gene transcription during intraperitoneal infection with herpes simplex virus-1, peritoneal exudate cells were obtained from infected mice. Maximal levels of interleukin-1β, tumour necrosis factor-α, and interleukin-6 mRNA were found in peritoneal exudate cells 6 hours after infection. RNA transcription declined at 24 hours post-infection and was no longer detectable at 48 hours post-infection. Since the higher susceptibility of newborn mice to intraperitoneal herpes simplex virus-1 infection has been suggested to be related to defective cytokine production, cytokine gene transcription was compared in peritoneal exudate cells obtained from infected newborn and adult mice. No significant differences in interleukin-1β, tumour necrosis factor-α and interleukin-6 gene expression were observed in peritoneal exudate cells obtained from newborn mice as compared with adult mice. In conclusion, cutaneous and intraperitoneal infection with herpes simplex virus-1 induces interleukin-1β, tumour necrosis factor-α and interleukin-6 gene transcription in epidermal and peritoneal exudate cells. [ABSTRACT FROM AUTHOR]

Macrophages have been shown to play a determining role in the immune defense against herpes simplex virus-1 (HIV-1) intraperitoneal infection in the mouse. In the present study, the effect of HSV-1 infection on interleukin-1 α and β gene transcription in peritoneal exudate cells was investigated. HSV-1 infection was found to induce interleukin-1 α and β gene transcription in these cells. Induction of the interleukin-1 β gene initiated 6 h postinfection (p.i.) and terminated at 48 h p.i. In contrast, interleukin-1 α RNA was detectable at high levels at 6 h p.i. but not at 24 h p.i. Inactivation of virus prior to infection prevented HSV-1-induced IL-1 gene induction, indicating that only infectious virus is able to stimulate IL-1 gene transcription. These findings are discussed in relation to the role of macrophages in the immunological mechanisms of defense against HSV-1 infection. [ABSTRACT FROM AUTHOR]

The article focuses on the process of naming and cataloging diseases in the fields of genodermatology and dermatological diagnosis. Topics discussed include the significance of extracting information from the medical history of a patient suspected of having a genetic skin disease, the physical manifestations and histopathological features of the disease. Also discussed is the importance of testing for genetic mutations.