Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.

PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although identification of an appropriate agent can be hampered by the mosaic nature and corresponding low variant allele frequency of the causal variant. Moreover, our understanding of the molecular consequences of these variants-for example how they affect gene expression profiles-remains limited.

Trigeminal trophic syndrome in a pediatric patient with diffuse intrinsic pontine glioma.

A 13-year-old girl with a history of diffuse intrinsic pontine glioma (DIPG) suffered from progressively worsening facial ulcerations secondary to paresthesia-induced self-excoriation. She was diagnosed with trigeminal trophic syndrome (TTS) induced by DIPG and struggled to heal her lesions in the background of this excoriation disorder. A multidisciplinary approach that included mood disorder management with sertraline and amitriptyline helped diminish paresthesia, improve her quality of life, and promote healing of the ulcers despite the progression of her DIPG.

Incidence and clinical factors associated with ulceration in infantile hemangiomas.

Background: Ulceration is an important complication in infantile hemangiomas (IHs). Prior to the use of β-blockers, the estimated incidence of this complication in a referral population was between 15% and 30%. The incidence and factors associated with ulceration have not been systematically studied since the emergence of β-blocker therapy.

Life-threatening hypothermia in a child with primary erythromelalgia.

Primary erythromelalgia is a rare autosomal-dominant condition due to pathogenic variant in the SCN9A gene, characterized by childhood onset of excruciating pain, redness, and warmth of acral sites. Patients often resort to ice water baths and other cooling measures to manage the discomfort. Hypothermia is a rare complication, reported only twice previously.

A case series of giant molluscum contagiosum in an immigrant African pediatric population.

Giant molluscum contagiosum (MC) has a well-known association with human immunodeficiency virus and other immune deficiency states. Although rare, it can be seen in healthy immunocompetent children. We describe eight cases of giant MC in healthy, immunocompetent African immigrant children in the Columbus, Ohio area.

Clinical Features, Prognostic Factors, and Treatment Interventions for Ulceration in Patients With Infantile Hemangioma.

Importance: Ulceration is a common complication of infantile hemangioma (IH), which leads to substantial morbidity. Ulceration in IH has not been systematically studied since the advent of β-blocker therapy for IH.

Objectives: To examine treatment interventions used for ulceration in IH and identify clinical prognostic indicators of healing time.

Bullous diaper dermatitis with cloth diaper use.

Irritant diaper dermatitis occurs at a higher frequency with cloth diaper use than disposable diapers. We present four cases of vesiculobullous, erosive diaper dermatitis occurring in older infants and toddlers with cloth diaper use that resolved completely after transitioning to disposable diapers. This is the first report of vesicles and bullae as a type of irritant diaper dermatitis.

Urinary Excretion of MicroRNA-126 Is a Biomarker for Hemangioma Proliferation.

Background: Hemangiomas are unique endothelial cell tumors that involute spontaneously, which makes interpreting their response to therapies difficult. The objective of this work was to identify a potential biomarker in the urine of children with infantile hemangiomas that would facilitate testing new therapies.

Methods: A prospective longitudinal study in children with hemangiomas and age-matched healthy controls was performed to determine whether microRNA-126, which is highly abundant in fetal endothelial cells, was more abundant in the urine of affected children.

Infantile Hemangiomas of the Lip: Patterns, Outcomes, and Implications.

Background: Infantile hemangiomas of the lip are potentially problematic because of high visibility and risk of disfigurement and ulceration. This study examined sizes, patterns, and locations of lip hemangiomas, their prognostic value, and their implications in hemangioma pathogenesis.

Methods: Records of 106 patients seen for lip hemangiomas from 2006 to 2013 at Nationwide Children's Hospital were reviewed.

Successful Treatment of Keratosis Pilaris Rubra with Pulsed Dye Laser.

Background: Keratosis pilaris rubra is a common but rarely reported condition characterized by follicular-based hyperkeratotic papules on a background of erythema. It can be embarrassing and symptomatic for patients, particularly adolescent boys. We sought to explore the efficacy of pulsed dye laser (PDL) in the treatment of keratosis pilaris rubra.

Eccrine Angiomatous Hamartoma: A Clinicopathologic Review of 18 Cases.

Background: Eccrine angiomatous hamartoma (EAH) is a benign cutaneous lesion defined by the proliferation of hamartomatous eccrine and capillary-like vascular elements in the dermis. However, the epidemiologic, morphologic, and histopathologic aspects of this uncommon disorder have yet to be fully delineated.

Methods: The authors retrospectively reviewed 18 EAH cases (including 14 accompanying skin biopsy specimens) diagnosed at 4 American university hospitals from 1996 to 2014.

Experience with Holter monitoring during propranolol therapy for infantile hemangiomas.

Background: Although adverse events in children treated with propranolol have proven rare, the appropriate methods of assessing cardiovascular risk and monitoring for toxicity when the medication is used for infantile hemangiomas remain unclear.

Objective: We sought to analyze Holter monitor reports of otherwise healthy patients on propranolol for infantile hemangiomas to determine the incidence of sustained arrhythmias and to evaluate the utility of Holter monitoring in the outpatient setting.

Methods: We retrospectively reviewed the charts of patients with infantile hemangioma who underwent 24-hour Holter monitoring after initiation or dose escalation of propranolol between 2011 and 2014.

Tuberous Sclerosis Complex: An Update for Dermatologists.

Tuberous sclerosis complex is an autosomal dominant disorder that often manifests early in life with cutaneous features, and it is important that dermatologists who care for children remain up to date on its diagnosis and management. This article provides an update regarding the most recent guidelines for diagnosis published by the International Tuberous Sclerosis Complex Consensus Conference, which took place in 2012, and provides a brief literature review of the most recent developments in the treatment of skin findings.

Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.

Importance: The 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference was convened to update the last consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes.

Analysis of two candidate genes for Basan syndrome.

Basan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease.

Persistent pediatric contact leukoderma after exposure to butterfly electrocardiogram back pad: a report of three cases.

Contact leukoderma or chemical leukoderma refers to hypopigmentation related to the application of chemical compounds to the skin. Hypopigmentation can occur with or without preceding inflammatory eczematous changes. We present three cases of contact leukoderma associated with exposure to a new type of electrocardiogram electrode back pad.

The curette prep: a modification of the traditional scabies preparation.

An accurate diagnosis of scabies is critical for proper treatment of this common infestation. In our clinic, we have developed a modification of the traditional method of performing a scabies preparation, called the curette prep, that substitutes a disposable curette for a scalpel blade when obtaining skin scrapings for examination. The major advantages of this technique are greater acceptability and safety for pediatric patients.

Results of Goeckerman treatment for psoriasis in children: a 21-year retrospective review.

Goeckerman treatment has been used for the management of widespread psoriasis in children for several decades at Mayo Clinic. We aimed to review our institutional experience with the effectiveness of Goeckerman treatment for psoriasis in children. We retrospectively reviewed the records of pediatric patients who underwent Goeckerman treatment over a 21-year period (1983-2003).

Howel-Evans syndrome: a variant of ectodermal dysplasia.

Howel-Evans syndrome is a rare form of palmoplantar keratoderma associated with esophageal cancer and is inherited in an autosomal dominant fashion. First described in 2 kindreds in the United Kingdom, Howel-Evans syndrome has subsequently been reported in only one American family. We present a previously unreported case of Howel-Evans syndrome from this American kindred demonstrating a distinct clinical phenotype.

A New Kid on the Block: IL-10+ Regulatory B Cells and a Possible Role In Psoriasis.

The pivotal role of T cells in the etiology of psoriasis has been elucidated; however, the mechanisms that regulate these T cells are unclear. Recently, it has been shown that an IL-10 producing B cell population may downregulate T cell function and it has been hypothesized that depletion of this B cell population may lead to exacerbation of T-cell mediated autoimmune disease. We present the case of an adolescent male with autoimmune lymphoproliferative syndrome (ALPS) being treated with the anti-CD20 chimeric monoclonal antibody rituximab in addition to intravenous immune globulin (IVIG) for immune thrombocytopenia (ITP) who developed a psoriasiform rash on his hands following mechanical trauma with concomitant severely decreased B cell count.

Kasabach-merritt phenomenon: case series and retrospective review of the mayo clinic experience.

Kasabach-Merritt phenomenon (KMP) is a rare thrombocytopenic consumption coagulopathy associated with an enlarging tufted angioma or kaposiform hemangioendothelioma. We report a case series of patients with KMP and discuss the treatment options and outcomes. Nine patients with a diagnosis of KMP were identified through retrospective chart review-6 had "definite KMP" and 3 had "less likely KMP.

More than just a bump: the hamartoma syndromes.

The hamartoma syndromes detailed in this review are just a few examples of the many genodermatoses now known to be associated with uncontrolled tumor proliferation secondary to mutations in tumor suppressor genes. Knowledge gained through the study of these syndromes has not only improved our understanding of patients afflicted with such conditions, but has also led to significant insight into the important role tumor suppressor genes play in preventing tumor formation and in carcinogenesis. As major strides continue to be made in the identification of causative mutations in the hamartoma syndromes, options for genetic testing will continue to expand.