Thoracic trophic syndromeYip, Alphonsus; Roy, Nandini; Natkunarajah, Janakan
doi: 10.1093/ced/llaf128pmid: 40080679
To our knowledge, we report the first known case of neural trophic syndrome localized to the thoracic region, which we propose to term ‘thoracic trophic syndrome’. An 89-year-old woman presented with a persistent ulcerative wound on her chest, associated with radiation therapy from 30 years prior and worsened by chronic scratching. This case expands the spectrum of neural trophic syndromes beyond trigeminal and cervical locations, underscoring the need for diagnostic awareness in similar presentations.
Paediatrics and GeneticsLi, Grace X; Sebaratnam, Deshan F
doi: 10.1093/ced/llaf008pmid: 39775837
A 5.5-month-old male, exclusively breastfed and born prematurely at 26 weeks, presented with a progressive facial and scrotal rash, unresponsive to general skin care, topical mupirocin and corticosteroids. On examination, the facial rash was well-demarcated and papulosquamous with a periorificial distribution. The scrotal rash was well-demarcated and erythematous with a conspicuous hyperpigmented margin.
When itch becomes unbearableYong, Ji Fung; Lai, Fei; Hackett, Caitriona; Tobin, Anne-Marie
doi: 10.1093/ced/llaf042pmid: 39880397
Itch, or pruritus, is a common and unpleasant sensation transmitted by both the peripheral and central nervous systems, sharing pathways with pain sensation. The itch pathway is complex, and itch is a perplexing symptom. We report a patient whose presentation following a spinal stroke highlights the potential mechanism of neuropathic itch, the challenges in managing chronic neuropathic itch and dysaesthesia and the importance of a holistic approach in treating patients who have these symptoms.
Two novel variants of SPINK5 mutations in a boy with ichthyosis linearis circumflexa and atopyGambichler, Thilo; Gencik, Martin; Schmidt, Jacqueline; Kekelyova, Patricia; Boms, Stefanie
doi: 10.1093/ced/llaf125pmid: 40257101
Netherton syndrome, including ichthyosis linearis circumflexa (ILC), is a very rare autosomal recessive disorder resulting from mutations in SPINK5, which encodes serine protease inhibitor Kazal-type 5 (SPINK5) [also known as lymphoepithelial Kazal-type-related inhibitor (LEKTI)]. Here, we report on a boy presenting with ILC and atopy but notably lacking hair shaft abnormalities, associated with novel frameshift variants in SPINK5.