Accuracy of Reported Community Diagnosis of Autism Spectrum Disorder.

To compare community diagnoses of Autism Spectrum Disorder (ASD) reported by parents to consensus diagnoses made using standardized tools plus clinical observation. 87 participants (85% male, average age 7.4 years), with reported community diagnosis of ASD were evaluated using the Autism Diagnostic Observation Schedule) (ADOS-2), Differential Ability Scale (DAS-II), and Vineland Adaptive Behavior Scales (VABS-II). Detailed developmental and medical history was obtained from all participants. Diagnosis was based on clinical consensus of at least two expert clinicians, using test results, clinical observations, and parent report. 23% of participants with a reported community diagnosis of ASD were classified as non-spectrum based on our consensus diagnosis. ASD and non-spectrum participants did not differ on age at evaluation and age of first community diagnosis. Non-verbal IQ scores and Adaptive Behavior Composite scores were significantly higher in the non-spectrum group compared to the ASD group (104.5 ± 21.7 vs. 80.1 ± 21.6, p < .01; 71.1 ± 15 versus 79.5 ± 17.6, p < .05, respectively). Participants enrolled with community diagnosis of PDD-NOS were significantly more likely to be classified as non-spectrum on the study consensus diagnosis than Participants with Autism or Asperger (36% versus 9.5%, Odds Ratio = 5.4, p < .05). This study shows suboptimal agreement between community diagnoses of ASD and consensus diagnosis using standardized instruments. These findings are based on limited data, and should be further studied, taking into consideration the influence of DSM 5 diagnostic criteria on ASD prevalence.

Body dysmorphic disorder in pediatric dermatology.

Body dysmorphic disorder is an obsessive-compulsive spectrum disorder involving a perceived defect in physical appearance that most commonly develops in early adolescence and causes significant functional impairment and suicidality at much higher rates than in affected adults. Patients may also present with subthreshold body dysmorphic disorder or obsessive concerns over a diagnosable dermatologic condition, both of which can present similarly to body dysmorphic disorder. Pediatric dermatologists can play an important role in detecting body dysmorphic disorder and body dysmorphic disorder-like symptoms, which may occur in as many as 20% of dermatology patients. Greater awareness of the prevalence, clinical presentation, and effect of these symptoms, as well as better screening tools and greater collaboration with our mental health colleagues, may lead to earlier, more effective intervention.

Congenital Langerhans cell histiocytosis presenting in a 27-week-gestation neonate.

Langerhans cell histiocytosis is exceedingly rare in premature infants, and the few cases reported suggest a poor prognosis with systemic involvement. We present a case of Langerhans cell histiocytosis limited to a single cutaneous lesion, presenting in a 27-week-gestation infant, which is the youngest gestational age of reported Langerhans cell histiocytosis cases. The lesion showed spontaneous resolution by 41 weeks corrected gestational age, and systemic involvement was absent, demonstrating a mild course of skin-only Langerhans cell histiocytosis in a premature infant.

Vitiligoid variant of lichen sclerosus in young girls with darker skin types.

BACKGROUND/OBJECTIVES: Vitiligo and lichen sclerosus are autoimmune disorders characterized by white discoloration, and both frequently affect the anogenital region. Vitiligoid lichen sclerosus refers to a superficial variant of lichen sclerosus in which the lesion appears clinically to be vitiligo based on the predominant presentation of depigmentation and minimal inflammation and sclerosis but histologically is consistent with lichen sclerosus. A limited number of reports have described vitiligoid lichen sclerosus, and from these reports, it appears to primarily affect darker-skinned people. METHODS: We retrospectively reviewed the records of 7 girls with darker skin types seen in our pediatric dermatology clinic who presented with a clinical overlap of vitiligo and lichen sclerosus. All had primarily well-demarcated, depigmented patches characteristic of vitiligo, but the lesions were symptomatic (pruritus, pain, bleeding, constipation), a presentation more consistent with lichen sclerosus. RESULTS: The girls were all treated with high-potency topical steroids, calcineurin inhibitors, or both. The associated symptoms improved or resolved, but most had minimal improvement of the depigmentation. CONCLUSIONS: The girls presented in this series appear to have had vitiligoid lichen sclerosus, given the clinical overlap of lichen sclerosus and vitiligo affecting the anogenital region, particularly given that they did not have depigmented patches elsewhere on their body. Previous cases of vitiligoid lichen sclerosus have been reported in darker skin types, and our findings support this possible predisposition. It is important for clinicians to assess patients presenting with genital depigmentation for overlapping features of vitiligo and lichen sclerosus and determine appropriate management.

Metastatic calcinosis cutis in a patient with Hodgkin's lymphoma.

Calcinosis cutis results from the deposition of insoluble calcium salts in the skin and subcutaneous tissue. Herein, we report a case of extensive metastatic calcinosis cutis in an 18-year-old woman with stage IV Hodgkin lymphoma with skeletal involvement. With combination therapy including radiation directed at her lymphoma and diltiazem, her lesions improved dramatically. This case demonstrates the previously unreported association between calcinosis cutis and Hodgkin lymphoma.