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Click here for the corresponding questions to this CME article. [ABSTRACT FROM AUTHOR]

The article presents a study that determines the conditions and symptoms of palmoplantar keratoderma punctata type 1 (PPKP1). It offers details of the method of the study that observes 13 patients who had typical PPKP1 features. It outlines the result and suggests the importance of long-term maintenance as mandatory to prevent reaggravation.

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Currently, neonatal erythroderma is approached on a case‐by‐case basis. The purpose of this scoping review was to develop a diagnostic approach in neonatal erythroderma. After a systematic literature search in Embase (January 1990 – May 2020, 74 cases of neonatal erythroderma were identified, and 50+ diagnoses could be extracted. Main causes were the ichthyoses (40%) and primary immunodeficiencies (35%). Congenital erythroderma was present in 64% (47/74) of the cases, predominantly with congenital ichthyosis (11/11; 100%), Netherton syndrome (12/14, 86%) and Omenn syndrome (11/23, 48%). Time until diagnosis ranged from 102 days to 116 days for cases of non‐congenital erythroderma and congenital erythroderma respectively. Among the 74 identified cases a total of 17 patients (23%) died within a mean of 158 days and were related to Omenn syndrome (35%), graft‐versus‐host disease (67%) and Netherton syndrome (18%). Disease history and physical examination are summarized in this paper. Age of onset and a collodion membrane can help to narrow the differential diagnoses. Investigations of blood, histology, hair analysis, genetic analysis and clinical imaging are summarized and discussed. A standard blood investigation is proposed, and the need for skin biopsies with lympho‐epithelial Kazal‐type related Inhibitor staining is highlighted. Overall, this review shows that diagnostic procedures narrow the differential diagnosis in neonatal erythroderma. A 6‐step flowchart for the diagnostic approach for neonatal erythroderma during the first month of life is proposed. The approach was made with the support of expert leaders from international multidisciplinary collaborations in the European Reference Network Skin‐subthematic group Ichthyosis. [ABSTRACT FROM AUTHOR]

Background We have encountered repeated cases of recessive lethal generalized severe (Herlitz-type) junctional epidermolysis bullosa ( JEB gen sev) in infants born to Hungarian Roma parents residing in a small region of Hungary. Objectives To identify the disease-causing mutation and to investigate the genetic background of its unique carrier group. Methods The LAMB3 gene was analysed in peripheral-blood genomic DNA samples, and the pathological consequences of the lethal defect were confirmed by cutaneous LAMB3 cDNA sequencing. A median joining haplotype network within the Y chromosome H1a-M82 haplogroup of individuals from the community was constructed, and LAMB3 single-nucleotide polymorphism ( SNP) patterns were also determined. Results An unconventional intronic splice-site mutation ( LAMB3, c.1133-22G>A) was identified. Thirty of 64 voluntarily screened Roma from the closed community carried the mutation, but none of the 306 Roma from other regions of the country did. The age of the mutation was estimated to be 548 ± 222 years. Within the last year, more patients with JEB gen sev carrying the same unusual mutation have been identified in three unrelated families, all immigrants from the Balkans. Two were compound heterozygous newborns, in Germany and Italy, and one homozygous newborn died in France. Only the French family recognized their Roma background. LAMB3 SNP haplotyping confirmed the link between the apparently unrelated Hungarian, German and Italian male cases, but could not verify the same background in the female newborn from France. Conclusions The estimated age of the mutation corresponds to the time period when Roma were wandering in the Balkans. [ABSTRACT FROM AUTHOR]

Background Tumour-specific expression of matrix metalloproteinase (MMP)-7 has been noted in cutaneous squamous cell carcinomas (SCCs) in patients with recessive dystrophic epidermolysis bullosa (RDEB). Objectives To examine the potential role of MMP-7 in shedding of heparin-binding epidermal growth factor-like growth factor (HB-EGF) in RDEB-associated and sporadic SCCs. Methods Tissue microarrays of RDEB-associated SCC ( n = 20), non-EB SCC ( n = 60) and Bowen disease ( n = 28) were immunostained for MMP-7, CD44 variant 3 (CD44v3) and HB-EGF. Shedding of HB-EGF was studied in vitro using two cutaneous SCC cell lines. Results Immunohistochemical analysis showed that HB-EGF was absent in tumour cells when MMP-7 and CD44v3 colocalized, and that the absence of HB-EGF was more pronounced in RDEB-associated SCCs than in non-EB SCCs. The loss of HB-EGF in MMP-7-CD44v3 double-positive areas was interpreted to indicate shedding and activation of HB-EGF; this was also detected in Bowen disease indicating its importance in the early phase of SCC development. Specific knockdown of MMP-7 expression in human cutaneous SCC cells by small interfering RNA inhibited shedding of HB-EGF and resulted in diminished activation of the EGF receptor (EGFR) and ERK1/2, and in reduced proliferation of SCC cells. Conclusions These findings provide evidence for the role of MMP-7 in promoting the growth of cutaneous SCCs by shedding HB-EGF, and identify EGFR signalling as a potential therapeutic target in RDEB-associated SCC and unresectable sporadic cutaneous SCC. [ABSTRACT FROM AUTHOR]

Due to the large volume of carbon currently stored in boreal regions and the high frequency of wildfire, the prospects of a warming climate would have important implications for the ecology of boreal forests which in turn would have significant feedbacks for carbon cycling, fire frequency, and global climate change. Since ecological studies and climate change models require routine information on surface soil moisture, the ability to remotely sense this variable is highly desirable. Toward this end research was conducted on developing methods for the retrieval of spatially and temporally varying patterns of soil moisture from recently burned boreal forest ecosystems of Alaska using C-band satellite radar data. To do this we focused on both individual date and temporal SAR datasets to develop techniques and algorithms which indicate how moisture varies across a recently burned boreal forest. For each of the methods developed we focused on reducing errors of SAR-derived soil moisture estimates due to confounding factors of variations in vegetative biomass and surface roughness. For the individual date soil moisture monitoring, we grouped test sites by a measurable biophysical variable, burn severity, and then developed algorithms relating moisture to SAR backscatter for each burn severity group. The algorithms developed had high coefficients of determination (0.56-0.82) and the moisture maps produced had high accuracy (3.61 rms error) based on the minimal validation conducted. For the seasonal soil moisture mapping we used principal component analysis to capture the time-variant feature of soil moisture and minimize the relatively time-invariant features that confound SAR backscatter. This resulted in good agreement between the drainage maps produced and our limited in situ observations and weather data. However, further validation, with larger sample sizes, is needed. While this study focuses on Alaska, research indicates that the techniques developed should be applicable to boreal forests worldwide. [ABSTRACT FROM AUTHOR]