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Summary: This study from Spain concerns a group of genetic conditions called ichthyosis in which the skin is abnormally scaly. The particular type studied here is caused by a defective gene on the X chromosome and generally affects males, while female carriers have normal skin, hence the name X linked recessive ichthyosis (XLI). People with XLI lack steroid sulphatase (STS), an enzyme needed for normal skin exfoliation. Affected boys are otherwise healthy but may have undescended testes. Using hospital databases, the authors identified 30 males with XLI and obtained information from medical records and telephone interviews, aiming to clarify the clinical features of this relatively rare condition. Twenty‐nine had normal palms, a useful marker distinguishing XLI from other types of ichthyosis. Ten percent had surgery for undescended testis, 30% had attention‐deficit hyperactivity disorder (ADHD), and 13% had epilepsy, all three figures higher than in the general population (3%, 7% and 1% respectively). Epilepsy in patients with XLI only occurred in those missing the whole STS gene and may result from damage to neighbouring genes. By contrast, ADHD occurs in boys with small mutations within the STS gene and is probably caused by a direct biochemical effect of STS deficiency on neuropsychological functions. None of these patients had autism or intellectual disability. Interestingly other studies show that the drug methylphenidate, widely used to treat ADHD, reverses the biochemical defect caused by STS deficiency. As Professor Traupe from Germany points out in the accompanying commentary, XLI is more complex than we previously thought. Linked Article: Rodrigo‐Nicolás et al. Br J Dermatol 2018; 179:933–939 [ABSTRACT FROM AUTHOR]

Background: Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors., Methods: Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility., Results: Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor., Conclusions: This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development., (© 2022. The Author(s).)

Background: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities., Objectives: To characterize clinically nonsyndromic XLI, with a particular focus on extracutaneous manifestations., Methods: This was a multicentre retrospective review of clinical findings from a case series of patients with a clinical and genetic diagnosis of XLI., Results: We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus. All patients had dark scales of variable size on the extensor surfaces of the extremities. Lack of flexural involvement and pruritus were common but inconsistent findings, whereas palmoplantar hyperlinearity was absent in all but one patient. A history of orchiopexy was present in 10% and thus was more common than expected vs. the general population (3%). Neurological disorders including epilepsy (13%) and attention deficit hyperactivity disorder (ADHD; 30%) were over-represented in patients with XLI., Conclusions: This was a retrospective study with a limited number of patients. In the absence of confirmatory genetic testing and family history of the disease, dark-brown scale of the extensor surfaces and the absence of palmoplantar hyperlinearity appear to be the most reliable clinical findings supporting a diagnosis of XLI. Dermatologists should be aware of the high prevalence of ADHD and epilepsy in patients with nonsyndromic XLI., (© 2018 British Association of Dermatologists.)