INTRODUCTION: Acne vulgaris is one of the most common skin conditions in children and adolescents. The presentation, differential diagnosis, and association of acne with systemic pathology differs by age of presentation. Current acknowledged guidelines for the diagnosis and management of pediatric acne are lacking, and there are variations in management across the spectrum of primary and specialty care. The American Acne and Rosacea Society convened a panel of pediatric dermatologists, pediatricians, and dermatologists with expertise in acne to develop recommendations for the management of pediatric acne and evidence-based treatment algorithms. METHODS: Ten major topic areas in the diagnosis and treatment of pediatric acne were identified. A thorough literature search was performed and articles identified, reviewed, and assessed for evidence grading. Each topic area was assigned to 2 expert reviewers who developed and presented summaries and recommendations for critique and editing. Furthermore, the Strength of Recommendation Taxonomy, including ratings for the strength of recommendation for a body of evidence, was used throughout for the consensus recommendations for the evaluation and management of pediatric acne. Practical evidence-based treatment algorithms also were developed. RESULTS: Recommendations were put forth regarding the classification, diagnosis, evaluation, and management of pediatric acne, based on age and pubertal status. Treatment considerations include the use of over-the-counter products, topical benzoyl peroxide, topical retinoids, topical antibiotics, oral antibiotics, hormonal therapy, and isotretinoin. Simplified treatment algorithms and recommendations are presented in detail for adolescent, preadolescent, infantile, and neonatal acne. Other considerations, including psychosocial effects of acne, adherence to treatment regimens, and the role of diet and acne, also are discussed. CONCLUSIONS: These expert recommendations by the American Acne and Rosacea Society as reviewed and endorsed by the American Academy of Pediatrics constitute the first detailed, evidence-based clinical guidelines for the management of pediatric acne including issues of special concern when treating pediatric patients.

Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma. Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, skeletal abnormalities, juvenile cataracts, and predisposition to specific cancers. We have identified a contemporary cohort of 41 patients to better define the clinical profile, diagnostic criteria, and management of patients with RTS. Patients with the diagnosis of RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or from direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. The age range at ascertainment was 9 months to 42 years (28 males and 13 females; M:F, 2:1). All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (OS) (32%), eight had radial defects (20%), seven had gastrointestinal findings (17%), two had cataracts (6%), and one had skin cancer (2%). Twenty-two of 28 patients without OS were less than 15 years old and thus remain at significant risk for this tumor. This case-series study reveals a clinical profile of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports. These differences may reflect either allelic or genetic heterogeneity. This study documents the frequency of clinical anomalies in a contemporary cohort of RTS patients and revises guidelines for diagnosis and management of RTS.

Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. The reasons for cell death in females and in utero lethality in males are unknown. The locus for IP has been linked genetically to the factor VIII gene in Xq28 (ref. 3). The gene for NEMO (NF-kappaB essential modulator)/IKKgamma (IkappaB kinase-gamma) has been mapped to a position 200 kilobases proximal to the factor VIII locus. NEMO is required for the activation of the transcription factor NF-kappaB and is therefore central to many immune, inflammatory and apoptotic pathways. Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells.

Background Intrauterine herpes simplex virus (HSV) infection often is omitted from descriptions of neonatal HSV disease. Previous characterizations of intrauterine HSV infection limit manifestations to the triad of cutaneous, central nervous system (CNS), and ophthalmologic findings. We report 3 cases of intrauterine HSV infection and provide a contemporary literature review of this disease. Methods Cases published between 1963 and January 2009 were identified. Selected cases fit the clinical description of intrauterine HSV infection, had manifestations present at birth, and had virologic confirmation of infection. Results This review yielded 64 cases, 3 of which were our own, of intrauterine HSV infection. Less than one-third fit the typical triad. Of the patients with cutaneous findings at birth, 24 (44%) had manifestations other than vesicles or bullae. Confirmation of HSV infection by culture of cutaneous lesions present at birth was delayed beyond 72 hours after birth in 15 patients and occurred at a median of 10 days of age. Nine of these patients had lesions at birth that were neither vesicles nor bullae, and 14 cases were confirmed by culture of new vesicles. Conclusions More than two-thirds of reported cases do not present with the typical triad. Cutaneous findings are not limited to vesicles or bullae. A high index of suspicion and recognition of varied cutaneous manifestations is necessary to diagnose infants with intrauterine HSV infection.

Familial incontinentia pigmenti (IP [MIM 308310]), or Bloch-Sulzberger syndrome, is an X-linked dominant and male-lethal disorder. We recently demonstrated that mutations in NEMO (IKK-gamma), which encodes a critical component of the NF-kappaB signaling pathway, were responsible for IP. Virtually all mutations eliminate the production of NEMO, causing the typical skewing of X inactivation in female individuals and lethality in male individuals, possibly through enhanced sensitivity to apoptosis. Most mutations also give rise to classic signs of IP, but, in this report, we describe two mutations in families with atypical phenotypes. Remarkably, each family included a male individual with unusual signs, including postnatal survival and either immune dysfunction or hematopoietic disturbance. We found two duplication mutations in these families, at a cytosine tract in exon 10 of NEMO, both of which remove the zinc (Zn) finger at the C-terminus of the protein. Two deletion mutations were also identified in the same tract in additional families. However, only the duplication mutations allowed male individuals to survive, and affected female individuals with duplication mutations demonstrated random or slight skewing of X inactivation. Similarly, NF-kappaB activation was diminished in the presence of duplication mutations and was completely absent in cells with deletion mutations. These results strongly indicate that male individuals can also suffer from IP caused by NEMO mutations, and we therefore urge a reevaluation of the diagnostic criteria.

Background/Objectives The clinical features of pediatric psoriasis warrant further attention. A national study was completed to determine the prevalence of scalp and nail involvement, and history of guttate psoriasis at onset, according to age, sex, and disease severity. Materials and Methods 181 children, ages 5 to 17 years, with plaque psoriasis were enrolled in a multi-center, cross-sectional study. Subjects/guardians were asked about a history of scalp and nail involvement and whether the initial presentation was guttate. Peak psoriasis severity was assessed and defined historically as mild psoriasis (MP) or severe psoriasis (SP) according to Physician Global Assessment and Body Surface Area measures. Results 79.0% (n=143) of subjects reported a history of scalp involvement and 39.2% (n=71) described a history of nail involvement. Boys were less likely than girls to report a history of scalp involvement (OR= 0.40 (0.19-0.84)), but were more likely to have had nail involvement (OR=3.01 (1.62-5.60)). Scalp and nail involvement was not related to psoriasis severity. In contrast, SP subjects (35.9%) more often reported a history of guttate lesions than did MP subjects (21.8%) (p=0.017). Antecedent streptococcal infection was more common in children with guttate vs. plaque psoriasis at onset (p=0.02), but did not correlate with severity. Conclusions Gender-related differences in scalp and nail involvement suggest koebnerization. Preceding streptococcal infection predicts guttate morphology but not severity, and initial guttate morphology is associated with eventual greater severity of disease More aggressive monitoring and management should be considered for guttate psoriasis, given its later association with more severe disease.

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis are the most severe cutaneous reactions that occur in children. Off-label use of human intravenous immunoglobulin (IVIG) has been reported in a number of autoimmune and cell-mediated blistering disorders of the skin, including severe cutaneous drug reactions. We review 28 previous reports in which IVIG was used in pediatric patients with SJS and toxic epidermal necrolysis and discuss our experience in 7 children with SJS, in whom no new blisters developed within 24 to 48 hours after IVIG administration and rapid recovery ensued. IVIG seems to be a useful and safe therapy for children with severe cutaneous drug reactions. Well-controlled, prospective, multicenter clinical trials are needed to determine optimal dosing guidelines and to compare the efficacy and safety of IVIG with other potentially effective modalities.