Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.

Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes. Current genotype-phenotype paradigms are insufficient to accurately predict JEB subtype and characteristics from genotype, particularly for splice site variants, which account for over a fifth of disease-causing variants in JEB. This study evaluated the genetic and clinical findings from a JEB cohort, investigating genotype-phenotype correlations through bioinformatic analyses and comparison with previously reported variants.

IgA nephropathy in adults with epidermolysis bullosa.

Epidermolysis bullosa (EB) is a devastating genetic condition caused by mutations in genes that give rise to aberrant proteins. There are 16 different such proteins implicated in EB that are important in maintaining the integrity of the dermoepidermal junction. It is classified into four major subtypes: (i) EB simplex; (ii) junctional EB (JEB); (iii) dystrophic EB (DEB); and (iv) Kindler EB.

Paediatric dermatology teleconsultations: a survey of healthcare professionals in the UK.

The COVID-19 pandemic catapulted dermatology services into a digital era, with the rapid introduction of teleconsultations. The UK National Health Service operational planning guidance recommends ≥ 25% of consultations are delivered remotely. There is a lack of data regarding the acceptability and effectiveness of paediatric dermatology teleconsultations.

Successful use of rituximab, an anti-CD20 monoclonal antibody, to treat IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa.

We describe the successful use of rituximab for the treatment of IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa. To our knowledge, this is the first reported case in the literature.

Treatment of paediatric eczema with narrowband ultraviolet light B therapy.

Background: Narrowband ultraviolet B phototherapy (nbUVB) is a well-established, well-tolerated and efficacious treatment for eczema. There is a distinct lack of literature surrounding the therapeutic use of nbUVB in eczema in children and especially in children with higher skin phototypes (III to VI).

Methods: We undertook a retrospective review of children aged 18 years and under with eczema who had undergone nbUVB in our department between 1 January 2011 and 31 December 2017.

Primary cutaneous osteosarcoma of the scalp in an immunosuppressed individual: A case report and review of the literature.

We report a case of a 76-year-old man presenting with a 12-month history of a solitary lesion on his scalp. The histopathology was consistent with a grade 2/3 osteosarcoma extending to the subcutis. Full-body imaging excluded any involvement of the underlying bony tissue or solid organ malignancy, thus a diagnosis of primary cutaneous osteosarcoma (PCO) was made.

Chemotherapy-induced skin toxicity and capillary leak syndrome.

Background: The occurrence of chemotherapy-related adverse cutaneous reactions in the setting of capillary leak syndrome (CLS) is quite rare. Our objective was to identify the type of skin reactions associated with CLS.

Methods: Leukemia or hematopoietic stem cell transplant patients between January 2010 and December 2017 were identified, and medical records were reviewed for a dermatology consultation occurring concomitantly with CLS.

Clinical and histopathological spectrum of toxic erythema of chemotherapy in patients who have undergone allogeneic hematopoietic cell transplantation.

Objective/background: Toxic erythema of chemotherapy (TEC) is a well-recognized adverse cutaneous reaction to chemotherapy. Similar to many skin diseases, the clinical presentations may vary. Our objective is to expand on the typical and atypical clinical and histopathological presentations of TEC.

Temporal trends in prenatal risk factors for the development of infantile hemangiomas.

Background/objectives: Specific maternal risk factors have recently been identified in the development of infantile hemangiomas (IH), including gestational diabetes (GDM), maternal antihypertensive medication use or gestational hypertension (GHTN), maternal progesterone use, and artificial reproductive technologies (ART). We sought to explore the change in incidence of these risk factors over time and determine their association with the increased incidence of hemangiomas over 35 years, as previously reported.

Methods: The charts of 869 mother and infant pairs (infants previously diagnosed with IH between January 1, 1976, and December 31, 2010) were reviewed for prenatal complications.

Association between obesity and pediatric psoriasis.

Obese children are at higher risk of developing psoriasis, and obesity severity is correlated with psoriasis severity. The relationship between obesity and pediatric psoriasis was explored in a well-defined population. Obesity and psoriasis coexist at diagnosis, but it is likely that obesity commonly precedes psoriasis in children.

The in-hospital burden of hidradenitis suppurativa in patients with inflammatory bowel disease: a decade nationwide analysis from 2004 to 2014.

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory disease that significantly affects the patient's quality of life. Multiple studies have shown a strong association between HS and inflammatory bowel disease (IBD). Our primary goal was to explore the in-hospital burden of HS on patients with IBD.

Agminated segmental plaque-type blue nevus associated with hypertrichosis and soft tissue hypertrophy: Report of a case and review of the literature.

Blue nevi are common skin neoplasms that typically present as asymptomatic solitary papules, although they may rarely occur in an agminated configuration. We describe a case of agminated blue nevus in a segmental facial distribution associated with soft tissue hypertrophy and hypertrichosis in a 16-year-old boy and present a review of the literature. Although they are generally considered to be benign, concurrent soft tissue changes occurring within an agminated blue nevus should be investigated thoroughly to exclude alternate diagnoses.