Summary
Background
No specific or curative therapy exists for hereditary palmoplantar keratoderma (hPPK), which can profoundly alter patient quality of life, leading sometimes to severe functional ...impairment and pain. The rarity and the aetiological diversity of this group of disorders can explain the difficulty in comparing the efficacy of available treatments.
Objectives
To review the different treatments tried in patients with hPPK since 2008, their efficacy and safety, with an evaluation of the various therapeutic modalities that can be used to treat hPPK.
Methods
We undertook a comprehensive review of the literature data published since 2008.
Results
Only a few case series and individual case reports were identified. Topical (emollients, keratolytics, retinoids, steroids) and systemic treatments (mostly different retinoids), often combined, are used to relieve symptoms. Oral retinoids appear to be the most efficient treatment, but not in all PPK forms, and with variable tolerance. New targeted treatments, according to the specific mechanisms of hPPK, appear promising for the future.
Conclusions
More studies using robust methodology and involving larger cohorts of well‐characterized patients (phenotype–genotype) are necessary and should be prioritized by structured networks, such as the European Network for Rare Skin Diseases (ERN‐Skin), with the aim of better management of patients with rare skin diseases.
What is already known about this topic?
Various symptomatic treatment options exist for hereditary palmoplantar keratoderma (hPPK), with variable efficacy.
What does this study add?
This exhaustive review of the literature data performed by several experts of the European Network for Rare Skin Diseases summarizes the current treatment of hPPK and provides a good foundation for future clinical trials.
Plain language summary available online
Summary
Background Topical corticosteroids remain the mainstay of atopic dermatitis therapy. Many atopic dermatitis therapeutic failures appear to be attributable to poor adherence to treatment due ...to topical corticosteroid phobia.
Objectives To assess the facets, origins and frequency of fear of topical corticosteroid use among patients with atopic dermatitis.
Methods A questionnaire comprising 69 items, generated from information gathered during interviews with 21 patients and 15 health professionals, was given to consecutive patients consulting at the outpatient dermatology departments of five regional university hospitals or with 53 dermatologists in private practice.
Results A total of 208 questionnaires were analysed (including 144 from parents and 87 from adult patients, 27 of whom were also parents); 80·7% of the respondents reported having fears about topical corticosteroids and 36% admitted nonadherence to treatment. A correlation was found between topical corticosteroid phobia and the need for reassurance, the belief that topical corticosteroids pass through the skin into the bloodstream, a prior adverse event, inconsistent information about the quantity of cream to apply, a desire to self‐treat for the shortest time possible or poor treatment adherence. Topical corticosteroid phobia was not correlated with atopic dermatitis severity.
Conclusion Topical corticosteroid phobia is a genuine and complex phenomenon, common among French patients with atopic dermatitis, that has an important impact on treatment compliance.
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.
Summary
Xeroderma pigmentosum (XP) is an orphan disease of poor prognosis. We report one case of parallel efficacy with anti‐programmed cell death‐1 (PD‐1) antibody on both melanoma and skin ...carcinoma in a patient with XP. A 17‐year‐old patient presented with metastatic melanoma and multiple nonmelanoma skin cancers. He was treated with pembrolizumab, a monoclonal anti‐PD‐1 antibody, at a dose of 2 mg kg−1, every 3 weeks. Parallel therapeutic efficacy of anti‐PD‐1 was observed in metastatic melanoma and skin carcinomas, and maintained at week 24. This observation suggests anti‐PD‐1 may be considered in patients with XP and metastatic melanoma in addition to advanced nonmelanoma skin cancer.
What's already known about this topic?
Xeroderma pigmentosum (XP) is a rare disease with a poor outcome.
XP affects nucleotide excision repair, with cutaneous, ocular and neurological manifestations. Management of patients with XP currently includes highly efficient ultraviolet protection and close dermatological follow‐up for early detection and treatment of skin carcinomas.
What does this study add?
We report the efficacy of anti‐programmed cell death‐1 (PD‐1) antibody immunotherapy for skin carcinoma in a patient with XP.
Anti‐PD‐1 antibody may improve the prognosis of this rare skin condition.
Linked Comment: Kraemer et al. Br J Dermatol 2018; 178:1009.
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