Summary
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an ...expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert‐based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.
What's already known about this topic?
Various symptomatic treatment options exist for congenital ichthyoses, but there are no European guidelines.
What does this study add?
These European guidelines for the management of congenital ichthyosis may help to improve outcomes and quality of life for patients.
Linked Comment: Akiyama. Br J Dermatol 2019; 180:449–450.
Plain language summary available online
Summary
These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an ...expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert‐based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.
Linked Comment: Levy. Br J Dermatol 2019; 180:253.
Background
Oral propranolol is the gold standard to treat infantile hemangiomas. There is better efficacy and a lower risk of sequelae if therapy is started before the end of the growth phase, but ...most children are referred too late. Herein, we report the first study to investigate the delay and its associated factors when referring infants with infantile hemangiomas that need propranolol therapy.
Objectives
The primary objective was to determine the delay in referral (time between age at referral first phone contact and the optimal age for referral (fixed at 75 days). The second objective was to determine the impact of weighted factors associated with delayed referral assessed by logistic regression performed on two subgroups (referral ≤75 vs. >75 days).
Methods
Monocentric, retrospective, observational study included infants with infantile hemangiomas treated with oral propranolol between August 2014 and May 2017.
Results
Eighty‐two children (83% females) were included. Before referral, 81 (99%) children had seen another physician (a paediatrician in 67% of cases). Median age at referral was 99 days 2–478 and 63% phoned after 75 days. Median age at the first visit was 111 days 2–515, and median age when propranolol was started was 128 days 32–541. After adjustment, in multivariate analyses, location on the lips (OR (CI 95%): 4.211.19–14.89) and superficial hemangioma (OR (CI 95%): 4.19 1.55–11.34) emerged as the most significant factors to influence referral before 75 days.
Conclusions
This study adds to our understanding regarding delayed referral and has identified targets for future information campaigns.
Oral propranolol (Pr) must be administered until the end of the proliferation phase of infantile haemangioma (IH). This phase may be difficult to assess, particularly where a deep component is ...involved. Doppler ultrasound scans (DUS), which identify vascular activity (VA), could assist the clinician in making the correct therapeutic decision (CTD).
All children with IH treated with Pr for at least 3 months and up to the age of 9 months, and who also underwent DUS, were enrolled in this retrospective, single-centre, observational study. The quality of DUS as a binary diagnostic test for IH proliferation was assessed, together with its value in deciding whether to discontinue Pr (at the end of the presumed proliferation phase) or resume this drug (in the case of suspected recurrence).
A total of 29 children were enrolled and 45 DUS were performed. Thirty-nine (87%) DUS were of high quality (80% sensitivity, 95% specificity) and made a major, moderate, or minimal contribution to the CTD in respectively 20%, 60% and 7% of cases.
DUS proved to be a high-value tool. They were essential in some cases of IH, mainly periocular and localised forms, and those involving deep components, in which the question of discontinuing Pr arose (age>1 year) and where clinical examination had not been sufficient to make the CTD. Furthermore, in the vast majority of cases, they provide a helpful examination and complement clinical findings in terms of patient follow-up and reaching a CTD.
DUS is an effective and complementary tool to clinical investigation.
Propranolol-resistant infantile haemangiomas Caussé, S.; Aubert, H.; Saint-Jean, M. ...
British journal of dermatology (1951),
July 2013, Letnik:
169, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Summary
Backround
Propranolol is now widely used to treat severe infantile haemangiomas (IHs). Very few cases of propranolol‐resistant IH (PRIH) are mentioned in the literature.
Objectives
To ...describe the characteristics of PRIHs.
Methods
A national, multicentre, retrospective, observational study was conducted from February 2011 to December 2011. All patients with PRIH evaluated by the members of the Groupe de Recherche Clinique en Dermatologie Pédiatrique from 1 January 2007 to 1 December 2011 were eligible.
Results
Among 1130 patients treated with propranolol for infantile haemangioma, 10 (0·9%) had PRIHs. Haemangioma propranolol resistance was observed at all ages during early childhood and at any proliferation stage.
Conclusions
PRIH is a rare phenomenon that raises questions and merits further investigation.
What's already known about this topic?
Although propranolol has been shown to manage infantile haemangiomas effectively, some rare resistant lesions exist.
What does this study add?
Propranolol‐resistant infantile haemangiomas are rare: 10/1130 (0·9%) in our study.
Resistance was observed in proliferative‐ and post‐proliferative‐phase haemangiomas.
Congenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual ...form of ichthyosis is complex and is guided by clinical expertise. CI usually has a major impact on quality of life (QOL) and thus requires lifelong treatment. To date, there are no curative therapies, although various symptomatic treatment options exist. The present protocol for the management of CI has been drawn up in accordance with the recommendations published in 2012 by the French National Authority for Health, based on a literature review, with the help and validation of members of the French network for rare skin diseases (FIMARAD). It provides a summary of evidence and expert-based recommendations and is intended to help clinicians with the management of these rare and often complex diseases.
Background
Very few studies have evaluated the quality of life (QoL) of children suffering from low‐flow vascular malformations. This is the first study investigating the influencing factors.
...Objectives
To identify the factors influencing QoL in children with low‐flow vascular malformations.
Methods
We conducted a qualitative study employing focus group interviews (Clinical Trials Number: NCT03440827). The study was a prospective, interventional, non‐comparative, multicentre study performed in four expert centres for vascular anomalies. Qualitative data about personal experiences, feelings, difficulties, needs and various factors influencing behaviours were collected. Theme‐based content analysis (manual and specialist textural software guided) were used to analyse the verbatim transcripts of all focus group sessions. Manual qualitative discourse analysis was performed to identify the different themes and categories. Informatics' analyses were subsequently performed for each individual category.
Results
Ten focus groups (26 individuals including 10 children aged 11 to 15 years) were conducted until saturation. Influencing factors were related to 4 categories: medical care, self‐image, social impact on daily activities and challenging social relationships. These factors were responsible for intrafamily upheavals and may lead to future identity‐building problems.
Conclusions
This study provides an essential framework from which physicians can develop strategies to improve patient care and quality of life. These data may also be useful to develop specific age‐sensitive QoL questionnaires.
KLICK syndrome: an unusual phenotype Onnis, G.; Bourrat, E.; Jonca, N. ...
British journal of dermatology (1951),
June 2018, 2018-06-00, 20180601, 2018-06, Letnik:
178, Številka:
6
Journal Article
Recenzirano
Erythrokeratoderma refers to a group of rareinherited disorders with both clinical and genetic hetero-geneities. Lesions usually start in infancy and are characterized by localized and ...well-demarcated erythematous andhyperkeratotic plaques, sometimes with a migratory nature. Erythrokeratoderma is often inherited as an autosomal dominant trait caused by mutations in the genesGJB3,GJB4orGJA1, encoding connexins 31, 303, and 43, respectively. Ery-throkeratoderma may be associated with neurological anomalies and can be caused by mutations inELOVL4. Recently,mutations inKDSR(3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide pathway, were also demonstrated to lead to erythrokeratoderma. Erythrokeratoderma should be distinguished from other skindiseases with erythematous and hyperkeratotic lesions in localized and well-demarcated patterns, such as KID (keratitis–ichthyosis–deafness) syndrome, MEDNIK syndrome, psoriasis,pityriasis rubra pilaris and some localized forms of keratinopathicichthyosis. Erythrokeratoderma should also not be confused with hereditary palmoplantar keratodermas (PPKs), especially when the lesions spread to adjacent areas. Loricrin keratoderma, causedby mutations inLOR, is another important differential diagnosis,the most distinctive but inconstant feature of which is the presence of a honeycomb PPK with digital constrictions.
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