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.     

Pancreatic fat necrosis in a 10‐year‐old girl: A case report and review of the literature

We report here a case of a young girl with pancreatitis and pancreatic fat necrosis (PFN). This condition is rare in the pediatric age group, and its etiopathogenesis is different from disease in adults. Whereas PFN in adults typically results from pancreatitis secondary to pancreatic duct obstruction, alcohol abuse, and pancreatic adenocarcinoma, in children it appears to arise in a setting of systemic disease, often involving a genetic disorder.     

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.     

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.     

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.     

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.     

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.     

Fatal disseminated Trichosporon asahii fungemia in a child with acute lymphoblastic leukemia and a morbilliform eruption

Trichosporonosis is a rare, life‐threatening, opportunistic fungal infection that affects immunocompromised individuals with neutropenia, particularly those with underlying hematologic malignancies. We present the case of a 10‐year‐old boy with acute lymphoblastic leukemia who developed a diffuse, morbilliform eruption in the setting of fever and pancytopenia. He was found to have Trichosporon asahii fungemia with widespread visceral dissemination, and his condition rapidly deteriorated despite treatment. It is important to consider trichosporonosis in the evaluation of a critically ill individual with neutropena and a rash, because the initial cutaneous presentation may appear benign and delayed therapy results in death.     

Atopic dermatitis-like graft-versus-host disease treated with dupilumab

The mainstay of treatment for atopic dermatitis (AD)-like graft-versus-host disease (GVHD) in both pediatric and adult patients includes oral corticosteroids with or without other systemic immunosuppressive therapies. To our knowledge, we report the first case series of dupilumab in the treatment of AD-like GVHD in a pediatric cohort of four patients, where we observed clinical improvement of GVHD as well as a reduction in itch in 3/4 (75%) patients. Our findings suggest that dupilumab is not only effective in treating AD-like GVHD, but also reduces systemic immunosuppression in the pediatric transplant population. The ability to reduce the length and amount of immunosuppression as well as improve quality of life suggest that dupilumab may serve as a safe and effective therapeutic option in our transplant population with GVHD.     

Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth

The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized infantile myofibromatosis which presented with diffuse hypopigmented macules, some with subtle atrophy and telangiectasia. Further workup revealed visceral involvement which led to treatment with systemic chemotherapy. Awareness of this rare clinical presentation is crucial to expedite workup and treatment given the poor prognosis in infants with visceral involvement.     

Eosinophil‐rich syphilis: a report of four cases

The differential diagnosis for eosinophil‐rich skin lesions often includes a drug reaction, allergic contact dermatitis and rarely, response to a helminth infection. However, many unrelated entities, such as infections, neoplasms and inflammatory dermatoses, can have a prominent eosinophilic infiltrate. Syphilis is classically associated with plasma cells, but other patterns of inflammation have been reported, including ulcerative, granulomatous and eosinophil‐rich. Classic teaching might indicate that the presence of eosinophils argues against a diagnosis of syphilis. We present four cases of secondary syphilis with increased eosinophils, ranging from 8 to >200 eosinophils per 10 high‐power fields (×400 magnification). Patient 1 had lesions on the penis and scrotum, with greater than 200 eosinophils per 10 high‐power fields. Patient 2 had lesions on the back, with 150 eosinophils per 10 high‐power fields. Patient 3 had lesions on the bilateral arms, with 8 eosinophils per 10 high‐power fields. Patient 4 had lesions involving the anus, with 17 eosinophils per 10 high‐power fields. These cases highlight that the presence of an eosinophil‐rich infiltrate on skin biopsy should not exclude syphilis from the differential diagnosis.     

The triad of pruritus,xanthomas, and cholestasis: Two cases and a brief review of the literature

When encountered in children, xanthomas are most commonly associated with a group of disorders known as familial hyperlipidemias. Aside from cosmetic concerns, these xanthomas are typically asymptomatic, but when generalized pruritus is a prominent associated symptom, clinicians should consider a different set of diagnoses that includes cholestasis of the liver. In this article we present two illustrative cases of children with cholestatic disease, pruritus, and xanthomas and discuss other disorders that may include this triad.     

Intravenous zinc therapy for acquired zinc deficiency secondary to gastric bypass surgery: a case report

Zinc deficiency may result from either a congenitally inherited defect of zinc absorption or is acquired secondarily from a variety of factors affecting dietary zinc intake, absorption, or loss. We report a case of acquired zinc deficiency secondary to gastric bypass surgery that resulted in vulvar cutaneous manifestations of delayed onset, with failure to clear after oral supplementation with zinc. The patient experienced improvement of symptoms only after administration of intravenous zinc supplementation. Upon review of the current literature, it is thought that the patient's original suboptimal response to oral supplementation and improvement after receiving intravenous zinc were related to the intentional surgical alteration and bypass of the absorptive capacity of the duodenum and jejunum. With the current prevalence of obesity and availability of surgical weight loss therapies, it is important to be mindful of the resulting nutritional deficiencies, their clinical manifestations, and factors affecting the efficacy of therapeutic approaches as seen in this case.     

Cutaneous manifestations of metastatic Crohn's disease

Metastatic Crohn's disease is a rare cutaneous complication of primary Crohn's disease. It is a granulomatous inflammatory process, similar to the pathogenic mechanism of Crohn's disease, that occurs in sites discontiguous from the gastrointestinal tract. Metastatic Crohn's disease can precede the development of Crohn's disease by months to years, and children are more likely to present with metastatic Crohn's disease in the absence of gastrointestinal symptoms. Given that approximately 30% of individuals with Crohn's disease present in childhood, early recognition of extraintestinal manifestations of Crohn's disease such as metastatic Crohn's disease can aid in timely diagnosis and management of bowel disease. We present data from two pediatric cases of metastatic Crohn's disease recently seen at our institution in addition to the 61 reported cases of pediatric metastatic Crohn's disease in the literature. This review article will focus on the epidemiology, pathogenesis, clinical features, and histology of and treatment options for pediatric metastatic Crohn's disease.     

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.     

Chilblain-like lesions in children following suspected COVID-19 infection

During the COVID-19 pandemic, chilblain-like lesions have been reported in mildly symptomatic children and adolescents. We present four children investigated for suspected COVID-19 infection who presented with acral skin findings and mild systemic symptoms. Histology from one case showed signs of vasculitis with evident fibrin thrombus.     

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).