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.

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.

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).

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.

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.

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

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.

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.

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.

Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

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.

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.

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.

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.