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This article presents a case study of a patient who has both multiple self-healing squamous epithelioma (MSSE) and features of Loeys-Dietz syndrome (LDS). MSSE is a rare condition characterized by the development of keratinizing tumors that regress on their own, while LDS is a connective tissue disorder that affects the aortic root. The patient in the study had recurrent keratoacanthomas and squamous cell carcinomas, and genetic testing revealed a pathogenic variant in the TGFBR1 gene. The article highlights the need for further research on the relationship between genotype and phenotype in disorders caused by TGFBR1 pathogenic variants, and emphasizes the importance of dermatologists being aware of potential aortic root dilatation in patients with MSSE. [Extracted from the article]

Summary: Toxic epidermal necrolysis (TEN) and Stevens–Johnson syndrome (SJS) are characterized by widespread skin and mucosal blistering and necrosis. The triggers and long‐term sequelae in children may differ from those reported for adults. Bronchiolitis obliterans (BO) is an uncommon complication, with only 15 previously reported cases, but can lead to significant long‐term morbidity, requiring lung transplantation in some cases. We report three children with nondrug‐related SJS (n = 1) and TEN (n = 2) who developed BO. Two were treated with intravenous immunoglobulin therapy (2–2.4 g/kg) and all three survived. We highlight salient learning points from our cases and potential pitfalls in diagnosis of BO, including delayed onset, and we also review the literature. [ABSTRACT FROM AUTHOR]

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The article presents a case study of a young boy with congenital erythropoietic porphyria (CEP). Topics mentioned include the cause of CEP, the complication of decreased activity of the uroporphyrinogen III synthase enzyme (UROS) including skin fragility, blistering, and facial scarring, and the mild normocytic anaemia of the patient.

The article discusses the case of a 68-year-old man who demonstrates a history of intense generalized pruritus. Histopathological examination shows that the presence of parakeratosis and hyperkeratosis that overly an acanthotic epidermis. Diagnosis indicates Barez syndrome (BS) that was confirmed by the presence of a mid-size mass on chest radiography.