Botulinum toxin A for pain reduction in pediatric patients with Parry‐Romberg syndrome

Parry‐Romberg syndrome (PRS) is characterized by hemiatrophy of facial structures, including skin, subcutaneous fat, muscle, bone, and cartilage. Complications associated with PRS include headaches, seizures, and chronic facial pain. Protocol for the treatment of chronic facial pain is not clear; reports on the use of botulinum toxin A injections for pain reduction in adults but not in the pediatric/adolescent population are available. Here, we discuss two pediatric PRS cases in which treatment with botulinum toxin A injections reduced or eliminated facial pain.     

A case of bilateral Parry‐Romberg syndrome successfully treated with hyaluronic acid filler augmentation

Parry‐Romberg syndrome is a rare acquired neurocutaneous disorder typically characterized by hemifacial atrophy. Few cases of bilateral facial involvement have been reported. We report a case of a 60‐year‐old female with a 20‐year history of progressive bilateral facial atrophy. Although an initial diagnosis of acquired partial lipodystrophy was considered, a diagnosis of bilateral Parry‐Romberg was favored for three main reasons: (a) lipoatrophy was confined to the face (b) imaging findings of enophthalmos and underlying white matter changes (c) laboratories showing absence of C3 nephritic factor and normal complement levels. The patient was treated with hyaluronic acid fillers with dramatic improvement in cosmetic appearance.     

Parry‐Romberg syndrome treatment with fat transfer and a new bleaching formula

Parry‐Romberg syndrome is a hemifacial atrophy which can be complicated by melasma. We present two cases of Parry‐Romberg syndrome, treated by fat transfer and bleaching of the skin using a modified “Kligman's formula.” The atrophy, as well as the skin dyschromia, improved, and the results were stable.     

Treatment of Linear Morphea (en Coup de Sabre) with Micronized Acellular Dermal Matrix Filler: A Case Report

En coup de sabre variant of linear morphea (LM) is a rare sclerotic skin disorder characterized by disfiguring linear depression of the frontal or frontoparietal forehead. Current attempts for cosmetic correction of atrophic lesions must be preceded by an evaluation of disease activity of LM, either by a sufficient clinical assessment or histologic evidence. Corrective procedures including corrective surgery, autologous fat grafting, hyaluronic acid filler injections were performed with varying degrees of success; still, there is a need for treatment options with non-invasive and long-term maintenance effects. Herein we report the use of micronized acellular dermal matrix filler as a novel and successful treatment for the atrophic defect of LM in a 24-year-old female. Molecular characteristics of the micronized acellular dermal matrix filler give enhanced durability and prolonged volume consistency, which results in a long-term extracellular matrix remodeling effect.     

Nail‐Patella Syndrome with an Emphasis on the Risk of Renal and Ocular Findings

Abstract: We describe a 6‐year‐old girl presenting with nail dysplasia affecting all nails and hands for 2 years. Changes were seen on the ulnar side of the nails. She was assessed for limitation of elbow movements at 3 weeks of age and underwent physiotherapy for thickened biceps tendon. She subsequently developed laxity of knees and ankles, and x‐ray revealed absent patellae at 32 weeks. She had behavioral abnormalities and sleep disturbances. X‐ray of the pelvis revealed iliac horns, and urinalysis showed 3+ proteinuria. She had mixed hyperlipidemia. Her chromosomal analysis was normal but showed a mutation in the LMX1B gene. She was diagnosed to have Nail‐patella syndrome or Hereditary osteo‐onychodysplasia (HOOD Syndrome). Her renal imaging was normal, as were her ocular pressures. She is under regular surveillance by a multi‐disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin.     

5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation–Arteriovenous Malformation Syndrome and Neurologic Findings

Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay. We report a case of 5q14.3 neurocutaneous syndrome presenting with multiple capillary malformations, neurologic abnormalities, and microdeletion in chromosome 5q14.3.     

Levels of Interleukin‐18 and Endothelin‐1 in Children with Henoch‐Schönlein Purpura: A Study from Northern India

Henoch‐Schönlein purpura (HSP) is an acute systemic vasculitis with unknown etiology, although several studies have found HSP to be related to cytokines such as tumor necrosis factor α, interleukin (IL)‐1, and adhesion molecules. In the present study we determined the levels of cytokines such as IL‐18 and endothelin‐1 (ET‐1) in children with HSP. Subjects were divided into three groups (group 1, 20 subjects with HSP; group 2, 10 subjects belonging to group 1 during their follow‐up 4 to 6 months later; and group 3, 16 controls who were healthy siblings of the subjects). IL‐18 and ET‐1 levels were determined using enzyme immunoassay and expressed as mean ± standard deviation. We observed higher IL‐18 levels in children with HSP (767.6 ± 145.1 pg/mL) than in controls (614.6 ± 66.54 pg/mL, p > 0.05), but IL‐18 levels were found to be significantly lower in subjects with HSP in remission (502.7 ± 60.81 pg/mL) than in those who were in an active phase (1,050 ± 244.5 pg/mL, p < 0.05, n = 10). ET‐1 levels were found to be significantly higher in subjects with HSP (1.93 ± 0.19 pg/mL) than in controls (1.10 ± 0.13 pg/mL, p < 0.05), although no significant difference was observed in ET‐1 levels between subjects in group 1 (1.88 ± 0.30 pg/mL) and group 2 (1.91 ± 0.120, p > 0.05, n = 10). A positive correlation was observed between IL‐18 and ET‐1 levels in subjects with HSP (correlation coefficient [r] = 0.5254, p < 0.01). These results suggest that levels of IL‐18 and ET‐1 are worth monitoring during the clinical course of the disease, but caution must be exercised in extrapolating data based on small study samples.     

Evaluation of Cutaneous Findings in Children and Adolescents with Attention Deficit Hyperactivity Disorder: A Preliminary Study

Attention deficit hyperactivity disorder (ADHD) is characterized by attention, concentration, mobility, and impulse control problems and is among the most frequently seen psychiatric disorders during childhood. Our aim was to evaluate cutaneous findings in children and adolescents with ADHD. In our study we found that onychophagy, traumatic skin changes, atopy and related symptoms, certain birthmarks, and acne were frequent cutaneous findings in children with ADHD. Although a limitation is the lack of a control group, ADHD is very common, and our study suggests that further studies of cutaneous findings and ADHD are warranted.     

Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse‐Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene

Woodhouse‐Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels. Inter‐ and intrafamilial phenotypic variability have been reported. Mutations in the C2orf37 gene cause WSS. The present report describes the clinical signs and symptoms of three affected siblings from a consanguineous Bedouin family from Kuwait. Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. Nine C2orf37 mutations causing WSS have been identified. This family shared the mutation reported earlier in Saudi families and families of Bedouin tribes from Qatar and Israel. No phenotypic or genotypic correlation has been observed. Despite the great phenotypic variability of WSS, hypotrichosis has been observed in all individuals with WSS reported. This condition has not been reported in the dermatologic literature. WSS should be included in the differential diagnosis of syndromic congenital hypotrichosis.     

Skin Disorders Associated with Obesity in Children and Adolescents: A Population‐Based Study

Obesity in children is a major public health concern in the United States. The objectives of the current study were to determine the prevalence of various groups of cutaneous disorders in obese children and adolescents and to compare the use of dermatology services in obese subjects with that those with a normal body mass index (BMI). This was a retrospective, population‐based study at the Kaiser Permanente Northern California Managed Healthcare System. The main outcome measures were the relative risk of cutaneous disorders associated with insulin resistance, androgen excess, bacterial infection, fungal infection, viral infection, inflammation, mechanical changes, and other skin conditions (hidradenitis, hyperhidrosis) in three weight groups (normal, overweight, obese) and the number of dermatology visits. A total of 248,775 subjects were included. Bivariate analyses showed a higher proportion of insulin resistance disorders, bacterial infection, fungal infection, inflammatory disorders, mechanical changes, and other skin conditions in obese subjects than in subjects with a normal BMI (p < 0.001). Disorders of androgen excess and viral infection were significantly less common in obese subjects (p < 0.001). Obese subjects had significantly lower odds of having at least one dermatology encounter than subjects with a normal BMI (odds ratio = 0.92, 95% confidence interval 0.88, 0.96, p = 0.003). Early onset obesity is associated with cutaneous disorders characterized by hyperproliferation, inflammation, bacterial and fungal infection, and mechanical changes but lower rates of disorders of androgen excess and viral infection. The use of dermatology services was not greater in obese patients. Heightened recognition and further analysis of adipose tissue as an endocrine organ that is capable of affecting the skin is warranted.     

Epidemiology of Ophthalmologic Disease Associated with Erythema Multiforme,Stevens‐Johnson Syndrome,and Toxic Epidermal Necrolysis in Hospitalized Children in the United States

The objective of the current study was to characterize the epidemiology and resource use of U.S. children hospitalized with ophthalmologic disease secondary to erythema multiforme (EM), Stevens‐Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN). We studied children ages 5 to 19 years hospitalized in 2005 in 11 states, encompassing 38% of the U.S. pediatric population. Using International Classification of Diseases, Ninth Revision, Clinical Modification codes, we identified admissions of children with EM, SJS, or TEN and the presence of concurrent ophthalmologic disease, analyzed patient and hospitalization characteristics, and generated age‐ and sex‐adjusted national estimates. We identified 460 children admitted with EM, SJS, or TEN, corresponding to 1,229 U.S. hospitalizations in 2005. Of the children with EM, SJS, or TEN, 60 (13.0%) had ophthalmologic disease, primarily (90.0%) disorders of the conjunctiva. Children with the highest proportions of ophthalmologic disease included those with mycoplasma pneumonia (26.7%), herpes simplex virus (15.6%), upper respiratory infection (13.9%), and lower respiratory infection (13.7%). Individuals with EM, SJS, or TEN and ophthalmologic disease were more likely than those without ophthalmologic disease to receive intensive care unit care (28.3% vs 17.0%, p = 0.03) and to be admitted to a children's hospital (63.3% vs 48.8%, p = 0.03). Ophthalmologic disease was also associated with a significantly longer median length of stay (6.0 days, interquartile range [IQR] 3–9 days vs 3.0 days, IQR 2–6 days, p < 0.001) and median hospital cost ($7,868, IQR $3,539–$17,440 vs $2,969, IQR $1,603–$8,656, p < 0.001). In children with EM, SJS, or TEN, ophthalmologic disease was most common in those with concurrent Mycoplasma pneumoniae and herpes simplex virus infections. Ophthalmologic disease was associated with considerably higher inpatient resource use in this population. Children with EM, SJS, or TEN should be screened and treated early for ophthalmologic disease to prevent morbidity and minimize long‐term sequellae.     

Acral Milia‐Like Idiopathic Calcinosis Cutis in a Child with Down Syndrome: Report of a Case,Review of the Literature,and Description of Dermoscopic Findings

Abstract: Milia‐like idiopathic calcinosis cutis (MICC) is a rare dermopathy, usually occurring in children with Down syndrome. We report a case of an 8‐year‐old girl with Down syndrome who presented with histologically verified MICC, briefly review the literature on MICC, discuss the differential diagnosis, and describe the use of dermoscopy in the evaluation of lesions, which we believe has never been published previously with this entity.     

Treatment of Common and Plane Warts in Children with Topical Viable Bacillus Calmette‐Guerin

Abstract: Treatment of verrucae in children is difficult and may be painful using traditional methods, especially if they are multiple or on the face. The objective of the current study was to evaluate the efficacy and safety of topical application of viable Bacillus Calmette‐Guérin (BCG) in a paste formula as a new immunotherapeutic modality in the treatment of common and plane warts in children. The present study included 80 children with common and plane warts at different sites on the body. They were divided into two groups. Group A (40 patients) received topical viable BCG and group B (40 patients) received topical saline as control. All patients and controls had received a previous vaccination of BCG. BCG was applied once weekly for six consecutive weeks. Patients who had partial or no response received another course of treatment for another 6 weeks. Follow‐up was at 6 months to detect any recurrences. A highly significant difference was found between the therapeutic response of common and plane warts to BCG and saline (placebo) (p < 0.001). Complete response was achieved in 65% of children with common warts and 45% of patients with plane warts. No response was detected in the control group. No recurrences or side effects were observed in the BCG group. Topical immunotherapeutic BCG is a new, effective, safe treatment option for children with common and plane warts.     

The Frequency and Intensity of Topical Pimecrolimus Treatment in Children with Physician‐Confirmed Mild to Moderate Atopic Dermatitis

Abstract: Atopic dermatitis (AD) is often treated with multiple modalities, including topical medications such as corticosteroids and topical calcineurin inhibitors (TCIs). The aim of this study was to describe the natural history of the utilization characteristics of topical treatment in those with AD. We conducted a longitudinal study of the first 4,105 children with physician‐confirmed mild to moderate AD enrolled in an ongoing postmarketing safety study of pimecrolimus. Information was obtained from participants every six months using a questionnaire. Drug utilization was solely determined by the physician and patient. Over the three years of our study, an increasing number of individuals reported at least 6 months of complete control of their disease, without the continued use of a topical medication. While all study participants used pimecrolimus at the start of the study less than 40% continued to use it after 3 years of study participation. If an individual was still using a topical medication after three years of follow‐up, it was most likely a topical corticosteroid. For those who continued to use pimecrolimus, the use was limited to about 60 grams of pimecrolimus in 6 months. Community‐based use of topical pimecrolimus to treat AD is limited both with respect to the duration of exposure and amount or total dose of the exposure. If a topical therapy is persistent, it is most likely to a topical corticosteroid.