Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

Abstract

Background Epidermolysis bullosa simplex (EBS) is the most common type of EB, a group of rare genodermatoses.Affected individuals suffer from skin blistering and report a high disease burden. In some EBS subtypes, plantar keratoderma (PK) has been described. Objectives This study investigated the presence and correlation of PK with body mass index, pain and mobility in EBS.Methods Individuals (n = 157) with genetically characterized EBS were included in this retrospective cohort study, and clinical data were collected over 16 years (referral patients to the largest German EB centre). Descriptive statistics and mixed linear models were used to assess correlations.Results PK was found in 75.8% of patients beginning at a mean age of 4.3 years. Both focal and diffuse PK were observed, and 60% of adults with localized and severe EBS were preobese or obese, with~30% of patients reporting severely reduced mobility. The presence of PK, especially diffuse PK, correlated significantly with local infections, obesity, pain and requirement of a wheelchair. ConclusionAlong with treating skin fragility and blistering, PK should be considered a potential marker of increased morbidity and may represent a target of EBS therapy development.

A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex

“…Physical activity during childhood is primarily limited by pain from blisters on the feet. Over time, however, repeated cycles of wounding and healing can result in the development of plantar keratoderma, producing a cycle of increased pain followed by reduced physical activity and increased body weight as patients grow older [ 11 ]. Seasonal variation in mobility due to fluctuations in blistering and pain have also been identified, with symptoms often flaring in the summer due to increased heat and humidity [ 10 , 14 ].…”

“…One previous study also found that pediatric patients may encounter skepticism and a lack of empathy from peers who do not understand the fluctuating nature of EBS [ 32 ]. These difficulties may persist into adulthood, particularly among individuals unable to fully participate in work or social activities, and can contribute to worsening physical manifestations of disease including obesity due to social isolation and depression [ 11 , 14 , 29 ]. In the present study, 15% and 13% of adolescent and adult respondents used psychiatric medications, respectively.…”

“…The most recent consensus reclassification identifies 14 clinical subtypes associated with seven distinct genes, with phenotypes ranging widely from mild blistering on the hands and feet (i.e., localized EBS, formerly EBS Weber-Cockayne), to large generalized blisters (i.e., severe EBS, formerly EBS-Dowling-Meara or EBS-generalized severe), to extracutaneous involvement and premature death (i.e., severe EBS with pyloric atresia) [ 1 , 8 , 9 ]. Previous research also suggests that the clinical manifestations of EBS may evolve over time, with the potential for decreased severity and frequency of blistering but increased risk of obesity and difficulty walking as patients reach adolescence and adulthood [ 10 , 11 ].…”

Epidemiology of inherited epidermolysis bullosa in Germany

“…They require multidisciplinary care, often suffer from extracutaneous manifestations, and later experience high psychological and socioeconomic disease burden 3,4 . Mild skin fragility leading to localized blistering on hands and feet may start later in life, but can likewise cause limitations in every‐day and professional activities, and reduction of the quality of life 5 . This latter group of EB patients likely remains underreported, either because it is not diagnosed, diagnosed later in life, or because it requires little or no medical care at all.…”