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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]

Erythropoietic protoporphyria (EPP) is a rare inherited disorder of haem biosynthesis in which protoporphyrin IX (PPIX) accumulates as a result of mutations in the ferrochelatase (FECH) or 5-aminolevulinic acid synthase 2 (ALAS2) genes.[1] The disease is clinically characterised by painful photosensitivity and, in some patients, liver disease. It is commonly used for the of staging and grading liver fibrosis and steatosis in most common liver diseases and is effective at diagnosing and excluding the presence of advanced liver disease.[5] We have, therefore, carried out this exploratory pilot study of FibroScan™ screening in our large cohort of EPP patients. [Extracted from the article]

Linked Comment:P. Wolf. Br J Dermatol 2022; 187:285–286. [ABSTRACT FROM AUTHOR]

Background/Purpose: Tricyclic antidepressants (TCAs) are still widely used and are available to purchase without prescription in some countries. Awareness of adverse cutaneous drug reactions is essential. Method: We reported a case of photo‐distributed hyperpigmentation due to imipramine and carried out a systematic search of the related articles using the search terms "tricyclic antidepressants" or "tricyclic antidepressive agents", and "hyperpigmentation" or "photosensitivity disorder". Fifty non‐duplicate citations were identified of which 28 articles which were independently assessed in full. The review was registered in PROSPERO, CRD42018107338. Results: The remaining 25 articles met our inclusion criteria. Photo‐distributed hyperpigmentation tricyclic antidepressant‐induced photosensitivity reactions (TIPs) was the most common presentation. In 21 cases, this presented as an asymptomatic discolouration of exposed sites. Imipramine (81%), amitriptyline (9.5%), desipramine hydrochloride (4.8%) and mirtazapine (4.8%) were reported to be the culprit drugs. Nineteen were female with a mean age at presentation of 55 years. Mean duration from commencing the culprit drug until the development of discolouration was 10.4 years. Mean daily dose was 222.7 mg for imipramine. Histology was characteristic with golden‐brown or brownish granules deposited in dermis. Staining for Masson‐Fontana and MEL‐5 was positive in all cases. Phototesting had not been done in cases prior to ours (negative 3 months after discontinuation of imipramine). Three further reports of suspected TIP presented with non‐specific and eczematous eruption. The two presentations were reported along with systemic problems (thrombocytopenia and hepatic injury). Conclusions: This systematic review highlights the characteristic features of exposed site hyperpigmentation of TCA‐induced photosensitivity occurring after prolonged drug exposure in many cases. [ABSTRACT FROM AUTHOR]

Background/Purpose: To examine the efficacy, tolerability and safety of phototherapy in children, in whom there is currently a paucity of data. Materials and Methods: Retrospective review of children under 18 years who received narrowband UVB (NB‐UVB), broadband UVB (BB‐UVB) phototherapy or psoralen with UVA (PUVA) photochemotherapy between 2003 and 2017 at a tertiary Paediatric dermatology centre in Southampton, UK. Results: 100 children aged 6‐17 years were included. The majority of children had psoriasis (74), atopic dermatitis (10) or vitiligo (8), with others having rarer dermatoses. Grade 2 erythema or above occurred in 46% of all included children and 42% (36/86) of those receiving NB‐UVB; however, grade 3 and 4 reactions were infrequent and only 3 children stopped treatment due to burning. NB‐UVB was particularly effective in those with psoriasis; 55/65 (85%) significantly improved, and 72% had not relapsed after 2 years. However, its effectiveness in atopic dermatitis was less convincing; in a small group of children, 6/10 (60%) significantly improved, but 66% relapsed within 3 months. Conclusions: Our analysis demonstrates that NB‐UVB is effective in children with psoriasis and vitiligo, with potential to achieve extended periods of remission in psoriasis. Its usefulness in atopic dermatitis is less clear. The long‐term safety of NB‐UVB in children is still unknown, but it appears to be a well‐tolerated treatment and should be considered in children for a variety of inflammatory dermatoses before progressing to immunosuppressive therapies. [ABSTRACT FROM AUTHOR]

Photosensitivity can present in a number of different ways and through a variety of mechanisms. Treatment should be tailored to the individual, and based on an understanding of the disease process and patient lifestyle. Common to all conditions is the need for adequate photoprotection directed at the wavelength of light responsible for the condition. Specialist medical and nursing management is often required for successful control of the photodermatoses. In this review we focus on both the medical and nursing management of these often disabling conditions. [ABSTRACT FROM AUTHOR]

The article presents the case of a 68-year-old male who was rushed to a medical facility due to long history of episodic rash comprising of itchy, red scaly patches and plaques. Based on skin biopsies, his histology showed acanthosis, spongiosis, and parakeratosis. He was diagnosed with primary cutaneous CD30+ lymphoproliferative disorder, which is a form of cutaneous T-cell lymphoma.