Neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis

This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease.     

Bilateral eyelid swelling as the presenting sign of subcutaneous sarcoidosis

An 18-year-old Black female presented with a 2-year history of bilateral upper eyelid swelling and the recent onset of multiple subcutaneous nodules on the arms. She had previously undergone evaluation and treatment for presumed angioedema. Biopsies of the eyelid and an arm nodule demonstrated non-necrotizing granulomatous inflammation with special stains negative for acid-fast bacilli and fungi, and the patient was diagnosed with subcutaneous sarcoidosis. The isolated finding of bilateral eyelid swelling 2 years prior to the onset of additional cutaneous findings led to a significant delay in diagnosis, highlighting the importance of considering sarcoidosis in the differential diagnosis for bilateral eyelid swelling.     

Pediatric facial pyoderma gangrenosum preceding the diagnosis of inflammatory bowel disease

We describe two adolescent patients with pyoderma gangrenosum (PG) involving the face. Subsequent gastrointestinal evaluation revealed microscopic bowel inflammation suggestive of inflammatory bowel disease. While PG is rarely localized to the face, this brief report reveals two cases of pediatric facial PG and suggests a correlation between facial PG and microscopic colitis.     

Real life data on the biopsychosocial effects of Adalimumab in the management of hidradenitis suppurativa: A multicenter cross sectional analysis and consideration of a multisystem monitoring approach to follow up

Hidradenitis suppurativa (HS) is a chronic relapsing, remitting disease which results in the formation of inflammatory nodules and pustules in intertriginous areas. HS is a complex disease with known psychosocial impact. Adalimumab is a biologic, used for treatment resistant HS, which working by inactivating TNF‐alpha. Our primary objective was to determine the effects of adalimumab on HS‐PGA and DLQI scores in patients with HS that had been on the treatment for at least 6 months. Our secondary objective was to note and assess the significance of adverse effects and impacts on wider health, namely occupational and social. A retrospective cross‐sectional study was performed using clinic notes from routine follow ups in biologic clinics in three specialist HS centers. About 77% (n = 78/101) patients demonstrated improvements in their HS‐PGA scores. Significant improvements in the DLQI scores of the patient cohort (P = .0001, 95% CI ?12.8 to ?5.9) have also been demonstrated. A total of 31.7% (32/101) patients experienced adverse effects spanning multiple organ systems, with 27.7% (28/101) requiring treatment cessation. Three of these patients stopped due to the worsening of preexisting mental health symptoms. Adalimumab is effective in reducing HS‐PGA and DLQI scores, but patients still complain of systemic effects necessitating drug cessation in some instances. A holistic and multisystemic approach to follow up is required, and there is scope for further studies examining temporal causality in the context of adalimumab and its multisystemic physical and psychological effects.     

Metastatic Crohn's disease in a boy presenting with genital swelling

Cutaneous manifestations of Crohn's disease are uncommon and occasionally can affect the genitals with varying symptomatology. When cutaneous features precede or occur in the absence of GI symptoms, this condition may remain undiagnosed. We report the case of a 14-year-old boy who presented for evaluation of persistent penile edema with clinicopathological features consistent with a diagnosis of genital metastatic Crohn's disease, successfully treated with infliximab.     

Recurrent sterile abscesses in a case of X-linked neutropenia

Cutaneous manifestations are common in monogenic immune disorders, including both infectious and non-infectious etiologies. We report follow-up of a case initially published in Pediatric Dermatology in 2001 of a 13-year-old boy with a history of inflammatory skin lesions and neutropenia who developed neutrophilic dermatoses precipitated by G-CSF. Whole exome sequencing performed at 36 years of age revealed a gain-of-function mutation in the WAS gene, leading to a diagnosis of X-linked neutropenia. This case report provides closure on a decades-long diagnostic odyssey and underscores the importance of genetic sequencing in patients who present with unusual dermatologic findings.     

Cutaneous Langerhans cell histiocytosis presenting with hypopigmented lesions: Report of two cases and review of literature

Langerhans cell histiocytosis is a rare group of disorders that results from the abnormal proliferation and accumulation of dendritic‐derived cells in various organs of the body, such as the skin and bones. Hypopigmented macules are a rare cutaneous presentation of Langerhans cell histiocytosis that may pose a diagnostic dilemma when no other findings of Langerhans cell histiocytosis are present at the time of examination. We present 2 cases of the hypopigmented variant of Langerhans cell histiocytosis, including a case with histopathologic features of regression, and a review of the literature. These cases highlight the importance of including Langerhans cell histiocytosis in the differential diagnosis of an infant with hypopigmented macules and papules.     

Resolution of chronic recurrent pyoderma gangrenosum with latent tuberculosis treatment

We present a 14‐year‐old male with chronic, recurrent pyoderma gangrenosum that resolved after treatment of latent tuberculosis. As pyoderma gangrenosum often occurs secondary to underlying diseases, we describe latent tuberculosis as a possible trigger for pyoderma gangrenosum.     

Vulvar swelling as the first presentation of Crohn's disease in children—A report of three cases

Vulvar swelling is a rare manifestation of metastatic Crohn's disease in children. It often predates gastrointestinal symptoms and can be the first presentation of pediatric Crohn's disease. We report three cases of pediatric Crohn's disease presenting with vulvar swelling. We discuss this rare presentation and its treatment and highlight the importance of recognizing it so that prompt investigation and appropriate management can be initiated.     

Novel use of Autoinflammatory Diseases Activity Index (AIDAI) captures skin and extracutaneous features to help manage pediatric DITRA: A case report and a proposal for a modified disease activity index in autoinflammatory keratinization disorders

Generalized pustular psoriasis (GPP) is a severe form of psoriasis, which is rare in pediatric and adult patients. It is characterized by sterile pustular lesions that appear on erythematous skin, associated with systemic features. A recent identification of mutations in the IL36RN gene in some GPP patients has led to a diagnosis of new autoinflammatory disease, interleukin-36-receptor antagonist deficiency (DITRA). DITRA represents an emerging group of autoinflammatory diseases with hyperkeratotic skin involvement, called autoinflammatory keratinization diseases (AIKD). DITRA diagnosis and management are challenging as neither DITRA-specific clinical assessment tools nor treatment trials exist. Autoinflammatory Diseases Activity Index (AIDAI) is a validated tool originally developed to evaluate disease activity and treatment response in other inherited autoinflammatory diseases with systemic and skin involvement. We report the first use of AIDAI in a pediatric DITRA patient with the following goals: (a) to describe the contribution of AIDAI to our patient's management; (b) to identify potential limitations of AIDAI in DITRA; (c) to review literature for current psoriasis assessment tools; and (d) to propose a preliminary DITRA/AIKD disease activity index (DITRA/AIDAI) to be validated in future studies.     

Tularemia‐induced erythema multiforme minor in an 11‐year‐old girl

Tularemia is a rare and potentially life‐threatening infection caused by the highly infectious gram‐negative coccobacillus Francisella tularensis. We present the case of an 11‐year old girl who presented with erythema multiforme minor in the setting of an indolent but progressive soft tissue infection and was found to have tularemia. We review the role of dermatologists in identifying the features of and complications associated with this rare zoonosis and discuss the potential effect of climate change on its incidence.     

反应性肉芽肿性皮炎的分类及临床研究进展

反应性肉芽肿性皮炎包括栅栏状中性粒细胞性肉芽肿性皮炎、间质性肉芽肿性皮炎及间质性肉芽肿性药物反应三类疾病.其病因及发病机制尚不明确,临床及组织病理表现多样,常伴有系统性疾病如类风湿关节炎和系统性红斑狼疮.本文综述了这三类疾病的发病机制、临床和病理特点、诊断和治疗等.     

Planar xanthomas secondary to post‐transplantation cholangiopathy in a 16‐month‐old boy

Planar xanthomas in children represent rare dermatologic findings associated with abnormalities in lipid metabolism. While planar xanthomas in Alagille's syndrome have been well described in the literature, there have been no cases reported of eruptive xanthomas in pediatric liver transplant patients. Herein we report a case of a 16‐month‐old boy status post–liver transplantation who presents with planar xanthomas secondary to cholangiopathy. A brief review of xanthomas and the related literature is also provided.     

Livedoid vasculopathy and high levels of lipoprotein (a): response to danazol

Livedoid vasculopathy (LV) is a thrombo occlusive disorder presenting with recurrent painful ulcers of lower extremities. Association of LV with increased level of lipoprotein (a) (LP(a)), a risk factor for cardiovascular disease, has been reported. Danazol has been used with success in the management of LV, but none of the previous studies looked at the correlation between response to the treatment and level of LP(a). The aim of this study was to demonstrate the efficacy of low‐dose danazol in the treatment of LV and its effects on LP(a). We present four cases with LV who were successfully treated with low‐dose danazol, assessing the clinical characteristics and laboratory tests including the level of LP(a). The average age of the patients was 45 years and the mean duration of the disease was 19 years. The treatment regime of danazol 200 mg daily led to complete healing of ulcers and reduction in pain and a 70% (ranging from 52 to 87%) reduction in the level of LP(a). The limitation of this study is “small sample size.” In our patients with LV, low‐dose danazol led to clinical improvement along with significant reduction in the level of LP(a).     

Neonatal cutaneous inflammatory syndrome associated with homozygous epidermal growth factor receptor mutation

The epidermal growth factor receptor (EGFR) is a transmembrane protein with tyrosine kinase signaling activity regulating many essential cellular functions, and loss of function mutations in EGFR result in a life-threatening neonatal syndrome. We present the case of a preterm boy born with intrauterine growth restriction who developed multisystem disease due to a homozygous mutation in the EGFR gene. He experienced a tumultuous and complex clinical course with recurrent skin infections and sepsis, nephrocalcinosis, failure to thrive, severe electrolyte imbalances, rectal perforation, and thrombus formation, and died after 11 months due to renal failure. This case report builds on work recently published in 2020 describing a case series of 18 similar patients and adds to the growing literature describing the severe phenotype and multisystem disease associated with loss of EGFR mutation in the Roma population.