Disseminated Blastomycosis in an African American immunocompetent pediatric patient: Lessons learned.

Disseminated blastomycosis can be challenging to diagnose given possible involvement of nearly any extrapulmonary organ system and the limitations of fungal diagnostic testing. Certain racial groups are at increased risk of disseminated fungal infections, even in immunocompetent patients. We describe a case of disseminated blastomycosis with cutaneous involvement in an African American adolescent with delayed diagnosis. Dermatologists can play an important role in the timely diagnosis of this disease entity by performing appropriate cutaneous biopsy techniques and should be involved early in these cases.

Mycosis Fungoides Preceding Pityriasis Lichenoides et Varioliformis Acuta by Twelve Years in a Pediatric Patient.

ABSTRACT: A 15-year-old boy presented to the pediatric dermatology department with long-standing patch stage CD8+ mycosis fungoides and subsequent development of recurrent pityriasis lichenoides et varioliformis acuta eruptions. There have been rare reports of patients with chronic, recalcitrant pityriasis lichenoides developing mycosis fungoides, but we believe this to be the second case of mycosis fungoides preceding a diagnosis of pityriasis lichenoides, and the first case reported in the pediatric population.

Localized eruptive porokeratosis in pediatric patients following treatment of acute leukemia.

Porokeratosis is a rare diagnosis in the pediatric population, and eruptive disease has been documented prior in patients with history of stem cell transplantation. Comparing various porokeratosis eruptions between patients can be difficult due to limitations in current classification and nomenclature. Here, we discuss a single-institution case series of three children who developed porokeratosis following hematopoietic stem cell transplantation for acute leukemia, and we propose that this presentation be termed localized eruptive porokeratosis (LEP). We present the distinguishing features of this variant by discussing the shortcomings in current nomenclature and also examine the association between porokeratosis and hematopoietic stem cell transplantation in the pediatric population.

Congenital eccrine angiomatous hamartoma: Expanding the morphologic presentation and a review of the literature.

Eccrine angiomatous hamartoma (EAH) is a rare benign vascular hamartoma characterized histologically by an increased size and number of mature eccrine glands associated with multiple foci of dilated capillaries in the dermis and subcutis. EAH typically presents in children as discrete, solitary nodules, or plaques most commonly located on the extremities. Some cases of EAH have an agminated distribution involving classic locations, or present as solitary lesions in less common locations such as the face, scalp, or trunk. We report the case of congenital EAH in a child with atypical morphological features and pattern of distribution further expanding on the range of presentations classically described.

Subacute cutaneous lupus erythematosus presenting in twins.

Subacute cutaneous lupus erythematosus is a clinically distinct form of cutaneous lupus erythematosus, with age of onset typically in the second to fifth decades. Eleven cases have been reported in childhood, and we present the first known case of subacute cutaneous lupus erythematosus in identical twins. Although flares are typically photo-induced, we present an annular eruption typical of subacute cutaneous lupus erythematosus with concurrent pinworm infestation, with recurrence of disease with cutaneous larva migrans. The patient's identical twin had a similar eruption with pinworm infection. This case highlights the possibility of parasitic infestation as a trigger for subacute cutaneous lupus erythematosus in genetically susceptible individuals.

Similarities between neuropathic pruritus sites and lichen simplex chronicus sites.

BACKGROUND: Localized itch of non-pruritoceptive origin is often neuropathic and may be referred to as neuropathic itch syndrome. OBJECTIVES: To describe the results of nerve conduction studies in patients with anogenital pruritus, brachioradial pruritus and scalp dysesthesia, and compare these sites to typical sites of lichen simplex chronicus (LSC). METHODS: The study summarizes previously published data combined with unpublished data of patients with scalp dysesthesia. Nerve conduction studies included measurements of distal sensory and motor latency, conduction velocity and F-responses. RESULTS: A neuropathy was demonstrated in 29 of 36 patients with anogenital pruritus (80.5%), 8/14 with brachioradial pruritus (57.1%) and 4/9 with scalp dysesthesia (44.4%). The typical sites overlapped with some but not all LSC sites. CONCLUSIONS: A considerable proportion of patients with brachioradial pruritus, anogenital pruritus and scalp dysesthesia have abnormal nerve conduction findings, suggesting a neuropathic origin. The skin sites overlap with some common LSC sites, suggesting that in some cases of LSC a local neuropathy could be a possible cause.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de novo synthesis pathway - KYNU, HAAO, and NADSYN1 - have been identified in humans with congenital malformations defined as congenital NAD deficiency disorder (CNDD). Here, we identified 13 further individuals with biallelic NADSYN1 variants predicted to be damaging, and phenotypes ranging from multiple severe malformations to the complete absence of malformation. Enzymatic assessment of variant deleteriousness in vitro revealed protein domain-specific perturbation, complemented by protein structure modeling in silico. We reproduced NADSYN1-dependent CNDD in mice and assessed various maternal NAD precursor supplementation strategies to prevent adverse pregnancy outcomes. While for Nadsyn1+/- mothers, any B3 vitamer was suitable to raise NAD, preventing embryo loss and malformation, Nadsyn1-/- mothers required supplementation with amidated NAD precursors (nicotinamide or nicotinamide mononucleotide) bypassing their metabolic block. The circulatory NAD metabolome in mice and humans before and after NAD precursor supplementation revealed a consistent metabolic signature with utility for patient identification. Our data collectively improve clinical diagnostics of NADSYN1-dependent CNDD, provide guidance for the therapeutic prevention of CNDD, and suggest an ongoing need to maintain NAD levels via amidated NAD precursor supplementation after birth.

An Approach to Hair Loss in Pediatric Primary Care.

Pediatric hair loss is a cause of concern for patients and families. Early diagnosis and treatment are crucial, as delays in care for certain diagnoses can cause permanent scarring alopecia. The evaluation of hair loss includes a thorough history, physical examination, and other potential tests. The causes of hair loss can be classified as either acquired versus congenital. Acquired causes of hair loss can be subdivided into scarring and nonscarring; however, some conditions may present as nonscarring and progress to scarring alopecia. Recommendations for the evaluation and treatment of pediatric hair loss for the primary care practitioner will be summarized.

Pediatric Psoriasis Comorbidities: Screening Recommendations for the Primary Care Provider.

Psoriasis, which affects up to 2% of children may be associated with significant comorbidity, including obesity, diabetes, cardiovascular disease, depression, and reduced quality of life. Screening and decision-making require a multidisciplinary approach with the management of potential comorbidities championed by primary care providers and supported by respective specialists and subspecialists. Research into the comorbidities and systemic manifestations has generated significant data culminating in several proposals for a consensus guideline for both pediatric and nonpediatric populations. Our aim is to provide a summary targeted to the pediatric primary care provider from the best available evidence when caring for children with psoriasis.

Photoletter to the editor: A papular eruption on the face. A distinct subtype of lichen planopilaris?

Lichen planopilaris is a scarring alopecia resulting from a lymphocytic inflammatory process of unknown etiology. We report a case of a 46-year-old man, who presented with an asymptomatic papular eruption over the face. Histologic examination was consistent with lichen planopilaris. This case is unusual because the disease affects the facial vellus hair only, without scalp involvement or other features of lichen planopilaris and its variants.

Investigator-initiated, open-label trial of ustekinumab for the treatment of moderate-to-severe palmoplantar psoriasis.

BACKGROUND: Palmoplantar psoriasis is a variant of psoriasis resistant to many forms of treatment. METHODS: Twenty subjects with moderate-to-severe psoriasis of the palms and soles, 50% with pustules at baseline, were treated with ustekinumab at weeks 0, 4, and 16. All subjects had previously failed topical corticosteroids. Dosing was 45 mg subcutaneously for subjects weighing <100 kg and 90 mg for subjects weighing ≥100 kg. The primary endpoint was the percent of subjects achieving clinical clearance at week 16, defined as Palm-Sole Physician's Global Assessment ≤1. The study received Tufts Medical Center IRB approval. RESULTS: After 16 weeks of treatment, 35% (7/20) of subjects achieved clinical clearance. Sixty percent (12/20) improved two or more points on the Palm-Sole Physician's Global Assessment scale. Sixty-seven percent (6/9) of those receiving the 90 mg ustekinumab dose achieved clinical clearance compared with nine percent (1/11) receiving 45 mg (p = 0.02). At 24 weeks, mean values showed 56% improvement in Dermatology Life Quality Index, and 34% improvement in pain Visual Analogue Scale score (all p < 0.05). LIMITATIONS: Assessment tools for palmoplantar psoriasis are not yet validated. Five subjects withdrew or were lost to follow-up. CONCLUSION: This study demonstrates that ustekinumab dosed at 90 mg is effective in controlling signs and symptoms of palmoplantar psoriasis.

Systemic hypersensitivity reaction (without cutaneous manifestations) to an implantable cardioverter-defibrillator.

Implantable cardiac devices play a significant role in decreasing the morbidity and mortality in patients with cardiovascular disease. Tissue-device interactions leading to systemic hypersensitivity are rarely reported or are perhaps misdiagnosed as infectious in origin. We report the case of a 51-year-old female who underwent placement of an implantable cardiac defibrillator (ICD) and a biventricular pacemaker and who immediately postoperatively experienced sepsislike symptoms without any identifiable causative pathogens and without any dermatitis. Patch testing revealed an extreme reaction to cobalt confirmed as present in the defibrillator. Removal of the ICD led to the complete resolution of her symptoms. Patch testing helped guide the construction of a gold-coated ICD, which was implanted in the patient. The patient has remained symptom free after implantation of this gilded ICD.