A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.

Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations. The skin findings may mimic cellulitis, erythema elevatum diutinum, IgA vasculitis, and Sweet syndrome, and there is often a morbilliform or urticarial rash and aphthous stomatitis. Mevalonate kinase deficiency is one of the identified monogenic variants that can cause very early onset inflammatory bowel disease (IBD). We present a rare case of a patient with mevalonate kinase deficiency, neonatal Sweet syndrome, and infantile-onset IBD, who has been successfully treated with canakinumab therapy.

Persistent, Pruritic, Reddish-Brown Papules and Plaques: An Atypical Presentation of Adult-Onset Still's Disease.

Adult-onset Still's disease (AOSD) is a systemic inflammatory condition characterized by recurrent fevers and a dermatologic eruption. The eruption is classically described as migratory and evanescent, composed of salmon-pink to erythematous macules, patches, and papules. However, a much rarer skin rash can also be seen in the setting of AOSD. This eruption has a different morphology, appearing as fixed, extremely pruritic papules and plaques. The histology of this atypical form of AOSD is distinct from that of the more common evanescent eruption. Management of AOSD is multi-faceted, aimed at controlling both the acute and chronic phases. Increased awareness of this more uncommon cutaneous presentation of AOSD is vital so that the appropriate diagnosis can be rendered. Herein, the authors describe an atypical presentation of AOSD in a 44-year-old male patient who presented with persistent, pruritic, brownish papules and plaques on the trunk and extremities.

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.

A Likely Case of Abemaciclib-Induced Hyperpigmentation in a Patient With Metastatic Breast Cancer.

We report a case of a 64-year-old female with a past medical history of invasive right breast adenocarcinoma presented with diffuse hyperpigmentation of her skin after admission to the hospital for an infected breast implant. She had no recollection of a similar cutaneous reaction in her past. The patient had been on a chronic regimen of anastrozole and abemaciclib for her metastatic breast cancer. A punch biopsy revealed results were highly suspicious for a drug-induced hyperpigmentation reaction. After a thorough review of the patient's current and past medication lists, it was determined that her abemaciclib was the most likely culprit of her hyperpigmentation. This case is significant because of the rarity of this possible specific cutaneous reaction to abemaciclib. The literature that exists on cyclin-dependent kinase 4 and 6 inhibitors (CDK 4/6) is minimal. And so, the importance of shedding light on its possible cutaneous side effects is not only helpful for clinician diagnosis but also essential for patients to make informed decisions. To our knowledge, there is no other published literature on likely abemaciclib-induced hyperpigmentation.

Congenital cutaneous candidiasis in a full-term neonate.

We present a case of a full-term neonate born with respiratory distress and a widespread erythematous rash, who was found to have congenital cutaneous candidiasis (CCC). The significance of this report is to contribute to the pre-existing literature on the rarity of CCC, but also to share a case of a patient who was successfully treated conservatively with topical antifungal agents only.

Wolf's isotopic response: A case of dermatomal granuloma annulare after COVID-19 vaccination.

The SARS-CoV-2 pandemic was announced in March 2020, with the first vaccines becoming available later that year. Although generally well tolerated, there have been reports of skin reactions occurring after receiving COVID-19 vaccines, with a rare occurrence of granuloma annulare. Granuloma annulare can occur secondarily to herpes zoster infection in a phenomenon known as Wolf's isotopic response (WIR). WIR has been described to often occur after herpes zoster virus infection, at the location of the healed shingles rash, termed 'post-herpetic isotopic response' (PHIR). We present the first reported case of PHIR with granuloma annulare after the Moderna COVID-19 vaccination series. This reported reaction should not limit receipt of the COVID-19 vaccine, but awareness of this association can minimise additional work-up and treatment.

Float like a Butterfly, Sting like One Too.

Rash after contact with butterflies has not been previously reported in the medical literature to our knowledge. We describe potentially the first suspected case of a cutaneous reaction to the Compton tortoiseshell butterfly (Nymphalis vaualbum) in a young boy who developed urticaria after the modified hairs of the butterfly embedded within his finger. His urticaria improved through treatment with oral and topical steroids as well as systemic antihistamines. This case report expands the variety of insect species that may cause human disease and should raise awareness for this possible reaction.

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.

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.

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.

Linear morphea overlying site of previous lichen aureus in a pediatric patient.

Lichen aureus is a pigmented purpuric dermatosis that tends to occur on the lower extremities, and linear morphea is an inflammatory disease of the dermis and subcutaneous fat that leads to a scarlike induration. We present a pediatric case of linear morphea developing in the same anatomic distribution as prior lichen aureus. Due to the possible progression of lichen aureus to morphea described herein and the difficulty in diagnosing early morphea, close follow-up may be considered for pediatric patients who present with this pigmented purpuric dermatosis.

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.

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.

Subcutaneous granuloma annulare involving the scalp.

Subcutaneous granuloma annulare (SGA) is an uncommon subtype of granuloma annulare. There are few reports of this entity solely affecting the scalp. We report a case of biopsy-proven SGA in a 21-month-old boy with six asymptomatic, rock-hard scalp nodules.

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.