Gardner-Diamond Syndrome in an Adolescent With Suicidal Ideation: A Case Report.

Gardner-Diamond syndrome (GDS) is a rare disease often seen in young women involving painful localized inflammation and ecchymosis. Ecchymosis usually develops spontaneously after emotional stress. The pathophysiology of the disease is not fully understood, and little is known about management modalities for this syndrome. The primary approach of health professionals in the evaluation of this rare condition should involve identification of cases and investigation of potential accompanying psychiatric pathologies. The case presented here highlights the importance of assessing for GDS and reviews descriptions of GDS in the context of the existing literature.

Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.

Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Neuropsychological evaluation was completed subsequent to medical diagnosis. Reports from both parents and teachers included cognitive regression; specifically in the recall of learned material, reading, and information sequencing. Direct testing revealed a WISC-IV GAI at <1st percentile, a diverse range of scores across the battery, and a splinter skill strength of average to above on visual memory tests. Performance included below grade level reading and writing, reduced adaptive functioning, and reported executive dysfunction. Her strong visual memory skills were recommended as a medium to enhance learning. Neurocognitive deficits revealed diverse, multisystem and multifocal impairments. The neuropsychological evaluation also showed significant decline from the previous evaluation and prompted a neurologic consult and corrective surgical procedure.

Impact of Cosmetic Camouflage on the Quality of Life of Children With Skin Disease and Their Families.

BACKGROUND/OBJECTIVES: Cosmetic camouflage is known to improve quality of life in adults. Few data are available regarding cosmetic camouflage in children, and thus it is not often selected as a mode of treatment. We sought to determine whether cosmetic camouflage leads to improved quality of life of pediatric patients with visible dermatoses and their parent or primary caregiver. METHODS: Patients aged 5 to 17 years with visible skin disease and their parent were assessed with the Children's Dermatology Life Quality Index (CDLQI) and the Family Dermatology Life Quality Index (FDLQI) before and after consultation regarding cosmetic camouflage. RESULTS: Twenty-two children with skin conditions were included in the study. The mean CDLQI decreased from 6.82 (SD = 1.28) to 3.05 (SD = 0.65; P = .0014), while the mean FDLQI decreased from 7.68 (SD = 1.15) to 4.68 (SD = 0.92; P = .0012). CONCLUSIONS: Our study highlighted improvement in quality of life in patients with skin disorders who were managed with cosmetic camouflage.

Quality of life in pediatric patients before and after cosmetic camouflage of visible skin conditions.

BACKGROUND: Visible vascular and pigmentary conditions have a negative impact on children's and adolescents' quality of life (QoL). We sought to quantitate the effect of visible skin anomalies and their camouflage on QoL. METHODS: In all, 41 patients, 5 years of age and older, were taught to use cosmetic camouflage. QoL was assessed using the Children's Dermatology Life Quality Index (CDLQI) before and 6 months after the intervention. Satisfaction and use were evaluated after 1 and 6 months. RESULTS: Baseline QoL scores revealed a small impact of vascular anomalies (CDLQI score 4.2) and a small to moderate effect of pigmentary anomalies (CDLQI score 6.1). Six months after the intervention, QoL improved in the study population as a whole (CDLQI score 5.1 vs 2.1, P<.001), with significant improvements documented for facial lesions and vascular malformations. Cosmetic camouflage was well tolerated and patients with pigmentary anomalies were more likely to continue using the products. LIMITATIONS: Limitations include small study population, few male patients, cultural influences not addressed, and limited range of conditions. CONCLUSIONS: Children and teenagers with visible vascular and pigmentary anomalies experience an impairment of QoL that is abrogated by introduction to use of cosmetic camouflage.

Efficacy of intravenous immunoglobulins in livedoid vasculopathy: long-term follow-up of 11 patients.

BACKGROUND: Evidence for the efficacy of various therapies of livedoid vasculopathy (LV) is limited. OBJECTIVE: We sought to determine efficacy and tolerability of 2 g/kg of intravenous immunoglobulins (IVIG) every 4 weeks in patients with LV. METHODS: This was a long-term follow-up study of 11 patients with LV treated with 2 g/kg of IVIG assessing the clinical characteristics, disease course, and quality of life. RESULTS: The treatment regimen led to complete remission of ulcerations and pain in 17 of 29 disease episodes (59%) after 3 cycles and in 25 of 29 episodes (86%) after 6 cycles. Two disease episodes showed remission after 7 and 8 cycles, resulting in a total number of remissions of 27 (93%). Subscore analysis showed resolution of pain in 80% after 2 IVIG cycles. Disease severity and quality of life were significantly improved after 6 cycles. Median duration of remissions was 26.7 months after initial and 7.5 months after subsequent disease episodes. LIMITATIONS: This was a retrospective study that did not include the comparison of IVIG efficacy and its impact on quality of life with treatment options. CONCLUSIONS: In our patients with LV, high-dose IVIG led to fast and complete resolution of pain and ulcerations and to substantial improvement in quality of life.

Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome) associated with cutaneous vasculitis.

Autoerythrocyte sensitization syndrome (ASS) (Gardner-Diamond syndrome) is characterized by painful ecchymotic lesions affecting mostly women with emotional stress. Although it is widely accepted as a non-inflammatory disease, ASS can be accompanied by some autoimmune diseases. In this case report, we present a case with ASS associated with cutaneous vasculitis. We also briefly discuss the possible inflammatory features of ASS.

Cosmetic camouflage advice improves quality of life.

BACKGROUND: The subjective benefit of attendance at cosmetic clinics has not previously been reported. OBJECTIVES: To assess the effect on perceived quality of life (QoL) of cosmetic camouflage advice. METHODS: In a three-centre study, 135 individuals were invited to complete a dermatology-specific QoL measure, the Dermatology Life Quality Index (DLQI), before and 1 month after their first visit to a cosmetic camouflage clinic. RESULTS: Eighty-two completed DLQI questionnaires were returned before the camouflage clinic appointment, and 56 corresponding questionnaires were returned 1 month after. The mean age of responders was 50 years, and the mean duration of their skin conditions was 15 years. The main conditions seen were pigmentary disorders (29%), scars (22%) and vascular disorders (13%). There was a significant difference in mean DLQI scores before and after the clinic visit (9.1 vs. 5.8, P = 0.0001). CONCLUSIONS: When assessed at 1 month, attendance at a cosmetic camouflage clinic appears to improve QoL significantly.

A prospective study of the impact of laser treatment on vascular lesions.

BACKGROUND: Vascular lesions, especially on exposed sites, can be unsightly and may cause significant psychological distress. Lasers are effective in treating such lesions, but relatively few studies have been performed looking at psychological scoring before and after laser therapy. OBJECTIVES: To assess the change in psychological distress in patients with vascular lesions following laser treatment. PATIENTS AND METHODS: A prospective study was performed with patients recruited over a 3-month period. Psychological distress was measured using subjective scores on a standard questionnaire before treatment and at a 6-month follow-up. Each patient was treated every 4-8 weeks with an appropriate laser by the same dermatologist until discharge. Forty-two patients were recruited with one of four diagnoses: telangiectasia, port wine stain (PWS), vascular spider or cherry angioma, which occurred mainly on facial or exposed sites. RESULTS: Following laser treatment, there was a significant decrease in subjective scores of patients with telangiectasia and vascular spiders. Patients with PWS showed objective improvement but this was not reflected in their subjective scores. Psychological distress had reduced significantly in patients with less severe vascular lesions. CONCLUSIONS: Laser treatment of minor vascular lesions leads to objective improvement, which is paralleled by psychological benefit, but objective benefit in PWS may not be perceived as beneficial by patients.

Sneddon's syndrome and phospholipid antibodies.

We present a case of Sneddon's syndrome with high titers of antiphospholipid antibodies (APLA), in which the leading symptom was an incapacitating memory defect. MRI revealed vasculitic lesions of the central nervous system (CNS). Therefore immunosuppressive therapy was started with steroids and cyclophosphamide pulses. The transient beneficial effects of such a therapy will be discussed.