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.     

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.     

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.     

Erythema multiforme-like lesions in children and COVID-19

During examination of cases of chilblains in children and adolescents, we identified four patients who also showed skin lesions similar to erythema multiforme (EM). They had no other known triggers for EM. One of them had a positive PCR for SARS-CoV-2, while the other three were negative. Skin biopsies from two patients showed features not typical of EM, such as deep perivascular and perieccrine infiltrate and absence of necrosis of keratinocytes. Immunohistochemistry for SARS-CoV/SARS-CoV-2 spike protein showed granular positivity in endothelial cells and epithelial cells of eccrine glands in both biopsies. All patients had an excellent outcome, and had minimal or no systemic symptoms. The coincidence of EM, a condition commonly related to viruses, and chilblains in the setting of COVID-19, and the positivity for SARS-CoV/SARS-CoV-2 spike protein by immunohistochemistry strongly suggest a link between EM-like lesions and SARS-CoV-2.     

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.     

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).     

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.     

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.     

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.     

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.     

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.     

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.     

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.     

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.