Aquagenic wrinkling of the palms in a cohort of Greek children diagnosed with cystic fibrosis: Associated clinical parameters.

BACKGROUND: Aquagenic wrinkling of the palms (AWP) is an excessive and early palmar wrinkling occurring after brief immersion to water (BIW), and has been reported as a frequent finding among Cystic Fibrosis (CF) patients. OBJECTIVES: To investigate any associations of CF patients presenting AWP with other disease characteristics and explore the pathomechanism of AWP phenomenon. METHODS: We evaluated AWP in CF patients and assessed the AWP parameters of palmar wrinkling, oedema, papules, pruritus and pain at 3, 7 and 11 min after a BIW test with other disease characteristics. Statistical analyses explored the associations of AWP with genotype, lung function, pancreatic insufficiency, hyperhidrosis, personal and family history of atopy and sweat chloride levels. RESULTS: One hundred CF patients (mean age 10.4 years) were included in the analysis. The genotypic distribution was ΔF508/ΔF508: 47%, ΔF508/other: 41% and other/other: 12%. Statistically significant associations of Kaplan-Meier curves of the AWP parameters with various disease characteristics and personal/family history were detected. Wrinkling was associated with history of atopy, hyperhidrosis and levels of sweat chloride test. The time to presentation of oedema and the appearance of papules were associated with history of hyperhidrosis and age at diagnosis. Finally, time to appearance of pruritus was related to history of atopy and of hyperhidrosis. Regarding TEWL regression analysis showed significant associations with age at diagnosis (p = 0.024), sweat chloride test levels (p = 0.005), history of hyperhidrosis (p = 0.033), history of atopy (p = 0.002) and hepatic-pancreatic involvement (p = 0.027). CONCLUSIONS: The existence of a statistically significant association between AWP and the history of hyperhidrosis, atopy, sweat chloride levels and hepatic-pancreatic function in CF patients was detected. A strong association between AWP and CF was detected. AWP after BIW could be elicited easily and possibly can be used as an initial screening tool to diagnose an individual with symptoms and signs that raise the likelihood of CF.

Aquagenic wrinkling of the palms after brief immersion to water test as a screening tool for cystic fibrosis diagnosis.

BACKGROUND: Aquagenic wrinkling of the palms (AWP) is an excessive and early palmar wrinkling occurring after Brief Immersion to Water (BIW), and has been reported as a frequent finding among cystic fibrosis (CF) patients. OBJECTIVES: To evaluate and assess the diagnostic performance of BIW test as an initial screening tool for CF diagnosis. METHODS: We measured AWP in CF patients, CF-heterozygotes (CF-het) and normal controls. The AWP parameters of palmar wrinkling, oedema, papules, pruritus and pain were assessed at 3, 7 and 11 min after a BIW test was performed for all the participants. Statistical analyses explored the progression of AWP in time for the three groups and assessed the diagnostic performance of BIW test as a diagnostic screening tool for CF. RESULTS: A total of 250 individuals (100 CF patients, their 50 CF-het parents, 100 healthy controls) were included in the analysis. The average age in years (mean ± SD) was 10.4 ± 4.0 for CF, 35.9 ± 6.1 for CF-het and 10.5 ± 4.0 for controls. The rate of positives for AWP at 3 min among CF patients, CF-het and controls was 68%, 8% and 0%, respectively (P < 0.01). Kaplan-Meier analysis showed a clear trend towards earlier appearance of all five parameters in the direction controls < hetCF < CF (P values <0.01). The best diagnostic performance in detecting between CF patients and non-CF was achieved by the presence of papules and wrinkling at 7 min (sensitivity/specificity: 94.0%/98.3% and 100.0%/92.0%, respectively). CONCLUSIONS: A strong association between AWP and CF was detected. AWP after BIW could be elicited easily and possibly can be used as an initial screening tool to assess if an individual with symptoms and signs that raise the likelihood of CF is a CF patient.

Validation of the dermatology-specific proxy instrument the Infants and Toddlers Dermatology Quality of Life.

BACKGROUND: The first dermatology-specific proxy health-related quality of life (HRQoL) instrument for children 0-4 years old with skin diseases, the Infants and Toddlers Dermatology Quality of Life (InToDermQoL), was recently developed. In order to avoid the problem of cross-cultural inequivalence focus groups work and pilot tests were organized simultaneously in all national centres of the project. The InToDermQoL showed good comprehensibility, clarity and acceptance. OBJECTIVE: To validate the InToDermQoL questionnaire during international field tests. METHODS: Internal consistency, test-retest reliability, convergent and discriminant validity of the InToDermQoL questionnaire were checked during international field tests. RESULTS: Parents of 473 children with skin diseases filled in the national language versions of the InToDermQoL questionnaire. All three age-specific versions of the InToDermQoL questionnaire with 10, 12 and 15 items, respectively, showed high internal consistency (Cronbach's α 0.90-0.93), good test-retest reliability (correlation coefficients > 0.9), significant correlations with the most widely used atopic dermatitis-specific proxy instrument, the Infants Dermatitis Quality of Life Index (correlation coefficients 0.68-0.79). The InToDermQoL versions for children <3 years old well correlated with the atopic dermatis severity measure Scoring of Atopic Dermatitis (correlation coefficients 0.66 and 0.86 for 10 and 12 items versions, respectively). The InToDermQoL questionnaire discriminated well among different diagnoses and disease severity levels. CONCLUSION: Our field tests confirmed internal consistency, test-retest reliability, convergent and discriminant validity of the InToDermQoL questionnaire. Development and validation of the InToDermQoL questionnaire make it possible to assess dermatology-specific aspects of HRQoL in youngest children with skin diseases. There are many reasons to assess HRQoL in dermatologic clinical practice, and we hope that our new instrument will be used internationally in paediatric dermatology for research and practical needs.

Creation and pilot test results of the dermatology-specific proxy instrument: the Infants and Toddlers Dermatology Quality of Life.

BACKGROUND: Until now, there was no validated dermatology-specific health-related quality of life (HRQoL) instrument to be used in youngest patients. OBJECTIVE: To create dermatology-specific proxy instrument for HRQoL assessment in children from birth to 4 years. METHODS: International focus groups, item selection and pilot tests were utilized. In order to avoid the problem of cross-cultural inequivalence, focus group work and pilot tests were planned simultaneously in all national centres of the project. Comprehensibility, clarity, acceptance and internal consistency of new instrument were checked. RESULTS: The title 'Infants and Toddlers Dermatology Quality of Life' was chosen for our new instrument with the proposed acronym 'InToDermQoL'. Focus group work was completed in seven national centres (Croatia, Germany, Greece, Malta, Poland, Romania and Ukraine). A total of 170 families of children with different skin diseases were interviewed, and a pilot version of the instrument was created. Centres from France, Denmark and Spain have joined the project at this stage. Parents of 125 children with skin diseases filled in the pilot versions of the instrument. Good comprehensibility, clarity, acceptance and internal consistency of the InToDermQoL were confirmed. The pilot test results showed that the InToDermQoL questionnaire well differentiates severity-dependent differences. It was also checked and confirmed during the pilot test that no significant information was missed in the questionnaire. Three age-specific versions of the InToDermQoL questionnaire with 10, 12 and 15 items, respectively, were approved for field tests. CONCLUSION: The pilot test results showed that the InToDermQoL questionnaire has good comprehensibility, clarity, acceptance and internal consistency and well differentiates severity-dependent differences. Further validation of the InToDermQoL during international field test will be performed.

Kawasaki disease in Greek children: a retrospective study.

BACKGROUND: The studies of series of children with Kawasaki disease (KD) in Greek children are limited. OBJECTIVES: To evaluate the epidemiology, clinical manifestations, laboratory findings, course and outcome of complete KD in Greek children. METHODS: Patients with complete KD who were discharged from our hospital and followed up routinely between 2004 and 2011 were included in the study. The relevant data were collected using a standardized form. RESULTS: There were 49 children (27 boys, 22 girls), mean age: 2.14 years. A seasonal peak of the disease during spring and summer months was detected. Changes of the extremities and cervical adenopathy were the least commonly met criteria for the complete KD diagnosis. The mean time of starting treatment was 6.5 days from the disease onset. The majority of patients, 42/49, responded well to a single infusion of intravenous immunoglobulin (IVIG), while 7/49 patients who had persistent fever despite initial therapy with IVIG needed additional treatment with either a second dose of IVIG(5), intravenous pulse of methyl prednisolone(1) or infliximab(1). Coronary artery abnormalities were detected echocardiographically in 17/49 patients. Most of them (15/17) developed transient dilatations which resolved by the 8(th) week of disease onset while only 2 patients, despite early onset of treatment, developed coronary artery aneurysms which required coronary artery bypass grafts at a later stage. CONCLUSIONS: Major epidemiologic features of KD detected among Greek children are similar to those reported in other populations. This study also demonstrates that significant cardiac complications may still occur following the disease even if it is diagnosed and treated early.

Hereditary vitamin D-resistant rickets in Greek children: genotype, phenotype, and long-term response to treatment.

We describe four patients (two pairs of children from two unrelated kindreds) from a Greek island, suffering from hereditary vitamin D-resistant rickets (HVDRR) with alopecia. There were two different homozygous mutations in the vitamin D receptor (VDR) gene of the affected members of the two kindreds that resulted in a truncated or missing receptor. The disorder began in early infancy with similar clinical, biochemical and radiological findings in all four patients, namely, alopecia (which provided the initial diagnostic evidence for HVDRR), rachitic deformities, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated serum levels of 1,25-dihydroxyvitamin D; however, the patients of kindred B had a more severe clinical expression. Treatment options include oral or intravenous calcium and active vitamin D metabolites. The response varies widely in different cases. Our patients were initially treated with high doses of 1alpha(OH)D3 and oral calcium supplementation. Kindred A patients had a satisfactory response to this regimen, while kindred B patients presented clinical and biochemical improvement when 1alpha(OH)D3 was changed to 1,25(OH)2D3. In the older patients of each kindred, treatment requirements gradually decreased during puberty, and therapy was finally discontinued before adulthood.

A case series of alopecia areata in children: impact of personal and family history of stress and autoimmunity.

BACKGROUND: The epidemiology of alopecia areata (AA) is well documented in adults but has not been studied adequately in children. OBJECTIVE: To evaluate the clinical and epidemiological profile of AA in children and assess the significance of thyroid screening. METHODS: One hundred and fifty-seven children (83 boys, 74 girls, aged 1-16 years) who visited our clinic with a first episode of AA from 1996 to 2000 were retrospectively studied. One hundred children served as clinical controls. RESULTS: The age of peak incidence of AA was 0-5 years. The youngest child was 1 year old. In the majority of the cases (131/157, 83.4%) the disease was mild or moderate (less than 50% hair loss). In 15 patients (9.5%), AA was preceded by a stressful event. Five patients had a personal history of autoimmune disease (3.2 vs. 5% of the controls, (P = not significant [NS]) while 18 patients had a personal history of atopy (11.4 vs. 18% of the controls, P = NS). Twenty-one patients had a family history of autoimmune disease other than thyroiditis (13.4 vs. 5% of the controls, P = 0.04), while 23 patients had a family history of thyroid disorder (14.6 vs. 3% of the controls, P = 0.006). In eight patients (5%) subclinical hypothyroidism of autoimmune aetiology (Hashimoto's thyroiditis) was revealed at the time of investigation. Six out of the eight patients with Hashimoto's thyroiditis had a family history of thyroid disorder, which was statistically significant when compared to AA patients without thyroiditis (P < 0.001). The severity of AA was associated with early age of onset of the disease (P = 0.02). CONCLUSION: The age of peak incidence of AA in children is 0-5 years. Children with AA have an increased family history of autoimmunity, and, among children with a first episode and short duration of AA (< 6 months), thyroid screening might be restricted in those with a positive family history of thyroid disorder. Thyroid screening should be routinely performed in all children with long-standing AA.

Low serum insulin values in children with multiple lesions of granuloma annulare: a prospective study.

BACKGROUND: The relationship between granuloma annularae (GA) and diabetes mellitus (DM) is controversial. OBJECTIVE: To investigate the relationship between multiple lesions of GA and carbohydrate metabolism in children. SUBJECTS AND METHODS: Fifteen children (seven boys, eight girls, mean age 4.8 years) with five or more lesions of GA were evaluated. A personal and family history of DM or other autoimmune diseases was obtained and the glycaemic and insulin response during an oral glucose tolerance test (OGTT) was determined. Thirteen children with a negative personal and family history of DM served as controls for the OGTT and 100 other children as 'clinical controls'. RESULTS: At the 30-min sampling of the OGTT the mean insulin values were comparable in GA children and controls (P=0.1), while the mean glucose values were significantly higher in GA children than in controls (P=0.005). All other insulin values during the OGTT were significantly lower in GA children than in controls, while all other glucose values were comparable in GA children and controls with all indices applied. Eleven out of 15 GA children had a positive family history of DM (73.3% vs. 16% of the clinical controls; P<0.0001). CONCLUSION: Multiple lesions of GA in children are associated with significantly lower serum insulin values than in controls and mildly impaired glucose tolerance.

Doubled dose of oral terbinafine is required for Microsporum canis tinea capitis.

Fourteen children, ages 1-15 years, with Microsporum canis tinea capitis were given oral terbinafine for 4 weeks at the recommended daily dose according to their weight: 10-20 kg, 62.5 mg; 20-40 kg, 125 mg; > 40 kg, 250 mg. Because none of the patients had clinically responded to treatment by week 4 the dose of terbinafine was doubled (up to 250 mg) for an additional 4-8 weeks in six patients, and continued at the original dose in six patients. Two patients dropped out of the study. On final evaluation, four patients were cured after 8-12 weeks of treatment. All cured patients received the doubled dose of terbinafine, except for one who was on the usual adult dose of 250 mg from the onset. Oral terbinafine was well tolerated by all but one patient, who experienced gastrointestinal disturbance and slightly raised transaminase levels during the first 4 weeks of treatment. Terbinafine side effects were not correlated with dosage or duration of treatment. We conclude that oral terbinafine should be dosed for M. canis tinea capitis at a revised schedule according to body weight: 10-25 kg, 125 mg/day and > 25 kg, 250 mg/day. The appropriate duration of terbinafine treatment remains to be determined.

Erythema nodosum in children: a prospective study.

BACKGROUND: The studies of series of children with erythema nodosum (EN) are limited and mostly retrospective. OBJECTIVE: We evaluated the epidemiology, etiology, clinical manifestations, course, and prognosis of EN in children. METHODS: Thirty-five children with EN (17 boys, 18 girls; mean age, 8.79 years) have been studied. Four excluded children proved, on biopsy, to have leukocytoclastic vasculitis (n = 3) or eosinophilic cellulitis (n = 1). RESULTS: In 27 of the 35 children (77%), the etiology of EN was established by laboratory investigations. In 25 children the causative factor of EN was an infectious agent (including beta-hemolytic streptococcus [n = 17], and Mycobacterium tuberculosis [n = 2]), whereas in 2 patients, EN was associated with Crohn's disease in one and Hodgkin's disease in the other. In 8 of the 35 children (23%) the etiology of EN remained undetermined. The mean duration of the rash was 11.5 days. Recurrences were noted in only 2 children (1 episode in 1 child and 3 episodes in the other). CONCLUSION: Currently the most common provoking agent of EN in children in Greece is beta-hemolytic streptococcus. However, Mycobacterium tuberculosis should still be considered as a cause of the disorder. Also, the course of EN is benign and recurrences are exceptional.

Herpes zoster in children.

BACKGROUND: The clinical studies of series of children with herpes zoster (HZ) are rather limited. OBJECTIVE: The purpose of this study was to evaluate the epidemiologic conditions, clinical manifestations, therapy, and outcome of HZ in children. METHODS: Twenty-one patients with HZ have been studied. Five patients who had herpes simplex virus infection were excluded. The laboratory diagnosis was made by fluorescent techniques. Acyclovir was administered systematically for 2 more days after no new lesions had developed. RESULTS: Thirteen patients (group A) were immunocompromised; eight patients (group B) were otherwise healthy. Two patients from group B had intrauterine varicella; the other six patients had had varicella under the age of 4 years. Three patients were recently exposed to varicella. The duration of HZ was significantly longer in group A than in group B, but the outcome was good in all patients. CONCLUSION: Herpes simplex virus infection may simulate the pattern of HZ; varicella in early childhood is a risk factor for HZ in otherwise healthy children; exposure of a child to varicella may cause reactivation of latent HZ virus; and acyclovir therapy within 3 days of exanthem onset prevents significant morbidity and death in immunocompromised children with HZ.

Children with alopecia areata: psychiatric symptomatology and life events.

OBJECTIVES: To examine the nature of psychopathology of children with alopecia areata (AA) and to investigate the frequency and quality of life events in the year before AA developed in comparison with a control group. METHOD: Thirty-three subjects with AA, mean age 10.5 +/- 0.3 years, were compared with 30 controls who visited a pediatrician for a mild condition. In addition, 16 preschool children with AA were compared with 17 preschool children who visited the pediatrician for a mild condition. The following measures were used: Child Psychiatric Interview, Children's Depression Inventory (CDI), Children's Manifest Anxiety Scale (CMAS), Life Events Scale for Children, and Child Behavior Checklist (CBCL). RESULTS: On the CBCL, children with AA had more psychological problems, in total, than controls, and in particular, they were more anxious or depressed, withdrawn, aggressive, and delinquent. They also had more somatic problems as well as problems in social relations and in attention. Girls with AA seem to have been affected more in dimensions of total problems, anxiety/depression, and internalizing/externalizing syndromes. In terms of anxiety (CMAS), more children with AA than controls seemed to worry and to have difficulties in concentration and physiological symptoms of anxiety. In the Child Psychiatric Interview, all children with AA exhibited symptomatology of anxiety or depression or both, usually of mild or moderate nature. Major depression was not detected through the CDI. Fewer children with AA had positive life events the year before AA than controls in a similar time period. CONCLUSIONS: Compared with controls, children with AA had more psychiatric symptoms in general and symptoms of anxiety or depression, or both, in particular. There is also evidence that lack of positive life events in the prealopecia period played a role in their lives. Psychiatric assessment, and if necessary treatment, is warranted for all children with this condition.

Corticosteroid treatment of erythema multiforme major (Stevens-Johnson syndrome) in children.

UNLABELLED: The effectiveness of systemic corticosteroids in erythema multiforme major (EMM) is controversial. We therefore evaluated the efficacy of corticosteroids in the treatment of EMM in a prospective study of 16 children with EMM admitted to our department within 3 days from the onset of rash. Ten patients (group A) received bolus infusions of methylprednisolone (4 mg/kg/day) while six had only supportive treatment (group B). The early use of corticosteroids compared to supportive treatment resulted in: (1) significant reduction of the period of fever (4.0 +/- 1.9 vs 9.5 +/- 4.2 days P = 0.01); (2) reduction of the period of acute eruption (7.0 +/- 3.3 versus 9.8 +/- 3.0 days P = 0.08); and (3) milder signs of prostration. Complications were minimal in both groups. CONCLUSION: The early and short course of corticosteroids favourably influences the course of erythema multiforme major in children.