Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.

The PI3K/AKT/mTOR signaling pathway is a critical mediator of cell functions. Activating mutations of this pathway are known to disturb normal growth and development, leading to a range of overgrowth and neurologic syndromes. We report a case of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) in novel association with MTOR pathogenic variant c.6644C>A (p.Ser2215Tyr) and neonatal evanescent skin findings. This case highlights the importance of a thorough newborn cutaneous examination, as this initial window offers a critical opportunity for potential prognostication and surveillance for neurological sequelae.

Chondrodermatitis nodularis helicis in a teenager caused by frequent headphone use.

Chondrodermatitis nodularis helicis is a benign condition that presents as a painful ear nodule and is commonly seen in older adults. Herein, we highlight a pediatric case of chondrodermatitis nodularis helicis caused by an increasingly common age-related behavior of frequent headphone use.

Impact of skin biopsy on the management of acute graft-versus-host disease in a pediatric population.

BACKGROUND/OBJECTIVES: Acute graft-versus-host disease (GVHD) of the skin is a common complication of hematopoietic stem cell transplantation (HSCT) but often represents a diagnostic challenge. The adult literature suggests that histopathology rarely dictates management decisions, but the clinical utility of skin biopsies in pediatric patients with suspected acute GVHD is unknown. The objective of this study was to determine the frequency with which skin biopsy leads to a definitive diagnosis of acute GVHD and changes the management of acute GVHD in the pediatric population. METHODS: We conducted a retrospective analysis of histopathology results and the associated impact on clinical management based on chart review of pediatric patients who underwent skin biopsy for cutaneous eruptions suspicious for acute GVHD from 1995 to 2016. RESULTS: Among 27 pediatric HSCT patients, skin biopsy yielded definitive diagnoses (GVHD or otherwise) in only 15% (4/27) of cases. Overall, dermatology consultation was associated with clinical management changes in 78% (21/27) of cases. A change in management was definitively based on skin biopsy results in only 7.4% (2/27) of cases. The mean duration of time between dermatology consultation and return of biopsy results was 4.8 days (range 1-17). CONCLUSIONS: Our results suggest that skin biopsy of pediatric HSCT patients with findings concerning for acute skin GVHD rarely yields a definitive diagnosis or change in management.

Holmes heart and tetralogy of Fallot in association with PHACE.

PHACE is an association between large infantile hemangiomas and brain, arterial, cardiac, and/or ocular abnormalities. Aortic or subclavian aberrations are the most common cardiovascular anomalies in PHACE, whereas complex congenital heart disease is rare. We report a case of Holmes heart and three cases of tetralogy of Fallot in PHACE association.

Herpes zoster at the vaccination site in immunized healthy children.

In this case series, we report seven immunized healthy children without underlying immunodeficiency who presented with herpes zoster that correlated with varicella-zoster vaccination site. The morphology of the lesions included erythematous papules, pseudovesicles, and plaques, with associated pain in two and pruritus in three patients; systemic symptoms ranged from none to low-grade fevers, upper respiratory symptoms, and joint pain. These cases highlight the clinical, diagnostic, and therapeutic implications of herpes zoster in vaccinated children.

Self-limited neonatal periumbilical erythema.

We report three cases of neonatal, noninfectious, periumbilical erythema that resolved shortly after umbilical stump detachment. We hypothesize that these infants experienced an inflammatory and vasodilatory response during the normal umbilical cord separation process. We propose a new term: self-limited neonatal periumbilical erythema.

Update on topical glucocorticoid use in children.

PURPOSE OF REVIEW: This monograph reviews recent studies, examining topical glucocorticoid use in children. Emphasis is placed on mechanism of action, relative potency, cutaneous absorption, adverse affects, steroid phobia, and treatment compliance. RECENT FINDINGS: Recent literature has shown that over 80% of patients prescribed topical glucocorticoids are fearful of side effects and fail to use them appropriately. This lack of compliance leads to decreased therapeutic benefits. Despite this 'steroid phobia', multiple studies indicate that proper use of glucocorticoids in children is well tolerated and effective. Recent studies have failed to show clinically significant hypothalamic-pituitary-adrenal suppression and cutaneous atrophy in children. High-potency steroids have been shown to cause growth restriction when used during pregnancy. Steroid allergy occurs with a prevalence of 2.7% and should be considered in children who fail to respond as expected to topical glucocorticoids. SUMMARY: Topical glucocorticoids continue to be well tolerated, effective and cost-effective in the treatment of inflammatory cutaneous conditions in children.

Asymptomatic Plantar Nodules in a Toddler.

Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a rare benign skin lesion that typically presents at birth, or within the first several years of life, as single or multiple asymptomatic skin-colored papules or nodules on the plantar heels. We present a classic case of PCFH in a 3-year-old child. This uncommon entity has no reported malignant features or malignant transformations. We demonstrate how this diagnosis can be made clinically without subjecting pediatric patients to potentially painful, traumatizing, costly skin biopsies and unnecessary imaging.

Nevus Sebaceus Arising Within a Scalp Whorl of a Healthy Male Neonate.

Nevus sebaceus (NS) and scalp whorl are both benign congenital findings that have not previously been reported to occur simultaneously. In most cases, the isolated finding of a single, classic-appearing NS or a single hair whorl can be followed clinically with observation. However, the number of lesions, distribution, and size of NS along with atypical placement of a scalp hair whorl can indicate an underlying syndrome or even underlying cranial abnormalities. We present a unique case of NS arising within a hair whorl on the vertex scalp of an otherwise healthy male neonate. After ultrasound showed no vascular malformations or proliferations and no cranial extension at the site, the lesion was later treated with surgical excision at six months old per the parents' preference, thus allowing for histologic confirmation of NS. Additionally, we discuss herein the diagnostic implications, recommendations for work-up, and treatment options of NS.

Vesiculobullous and hemorrhagic erythema migrans: uncommon variants of a common disease.

BACKGROUND: The diagnosis of Lyme disease relies on the accurate diagnosis of erythema chronicum migrans (ECM) because serologic tests, culture, and polymerase chain reactions are often inaccurate. Although ECM is classically associated with a targetoid rash, there are many variants of this lesion. These variants of ECM are often initially diagnosed as cellulitis or spider bite reactions and treated with oral antibiotics. Inappropriate treatment further delays the diagnosis of Lyme disease, leading to late complications. METHODS: We present four cases of vesiculobullous and hemorrhagic ECM, a less common variant of ECM. RESULTS: All four patients had a history of exposure to wooded areas in Massachusetts during the summer months. In these patients, ECM presented with central vesicles and bullae with hemorrhage, crusting, and in some cases necrosis. Serologic testing was positive in three of the four cases at presentation. In one case, microscopic examination of a skin biopsy showed epidermal spongiosis with parakeratosis, focal necrosis, papillary dermal edema, erythrocyte extravasation, and a superficial and deep perivascular lymphocytic infiltrate with neutrophils and eosinophils of the dermis. No fungal organisms or bacteria were identified. All four patients were treated with doxycycline with complete resolution of symptoms. CONCLUSIONS: It is important to recognize the vesiculobullous and hemorrhagic variants of ECM in order to minimize the provision of inappropriate antibiotic treatment for other diagnoses. Early diagnosis of ECM and the initiation of appropriate antibiotics may prevent late complications of Lyme disease.