Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa

Abstract

A standardized questionnaire was used to assess mobility, activity and pain in 140 randomly chosen children, who were representative of all major types and subtypes of inherited epidermolysis bullosa (EB). Pain status in these children was compared with 374 randomly selected adults with EB. The level of independence for each of six activities of daily living (ADL) (toileting; feeding; bathing; dressing; grooming; walking) was assessed in these EB children using conventional criteria for scoring. Whereas more than 90% of all EB simplex (EBS) and dominant dystrophic EB (DDEB) children were totally independent for each function (excluding walking), the frequency of similarly totally independent patients with junctional EB (JEB) and recessive dystrophic EB (RDEB) ranged from only 39% to 73%. No DDEB children and only 2% of EBS patients were totally dependent in their individual ADL, in comparison to 8-27% of JEB and 2-27% of RDEB children. Totally independent walking was reported in only 31%, 31%, 67%, and 24% of EBS, JEB, DDEB, and RDEB children, respectively. A daily level of EB-related pain was assessed in children by their parents using a linear scale of 0 (no pain) to 10 (unbearable pain). Whereas 14-19% of all children with EBS, JEB, and DDEB were graded with pain levels of more than 5, 32% of all RDEB children reportedly suffered this much pain. Increased frequencies of pain with scores more than 5 were most often noted in those patients having more clinically extensive or severe EB subtypes. These included JEB-Herlitz (20% vs. 14% in JEB-non-Herlitz) and RDEB-Hallopeau-Siemens (47% vs. 20% in all other RDEB subtypes). Only 5% of all RDEB children reportedly were pain-free, compared to 12-14% of those with EBS, JEB, and DDEB. Collectively, these data provide the first report of the specific impact different forms of EB have on daily living and coping with this genodermatosis.

Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons

“…We suggest that the local suppression of axonal branching and mechanotransduction at the dermo-epidermal junction functions in vivo to prevent hypersensitivity of sensory axons entering the epidermis. Consistent with this hypothesis, it is known that patients suffering from the blistering disease resulting from loss of laminin-332 also suffer severe pain [35][36] . We suggest that the origin of some of this pain may lie in increased branching of epidermal fibers combined with a de-repression of mechanosensitivity.…”

“…Our data suggest that the absence of laminin-332 in JEB patients will lead to mechanical hypersensitivity of sensory afferents, which may be exacerbated by increased branching of sensory endings in the epidermis. These novel effects of laminin-332 may in part underlie the extreme pain experienced by sufferers of JEB [35][36] . …”

Health-related Quality of Life in Epidermolysis Bullosa: Validation of the Dutch QOLEB Questionnaire and Assessment in the Dutch Population

“…Furthermore, in recent years more focus has been placed on finding specific treatments for EB and measuring HRQoL can help in assessing the efficacy of these new treatment modalities (4,5). Also, measuring and comparing HRQoL to other diseases can help assign funding to this rather unknown and rare disorder (4,6). Measuring HRQoL is complicated by the wide range of phenotypes in EB, which all have their own clinical severity (3).…”

“…Several studies have focused on qualitatively describing the impact of EB on patients' lives (7)(8)(9)(10)(11). Quantitative measurement of HRQoL has been performed using both generic and dermatology-specific instruments in EB patients (6,(12)(13)(14)(15). However, due to ceiling effects and content validity issues of these instruments, the accuracy of the measurements is questionable.…”

The Main Problems of Parents of a Child With Epidermolysis Bullosa

“…Even so, children with all types of EB can be confronted with extensive and complex problems such as never-ending itch, repeatedly painful wound care, disfigurement, embarrassment, and difficulties in attaining social demands (Fine, Johnson, Weiner, & Suchindran, 2003;Hall, 2004;Horn & Tidman, 2002). The skin disease can also put immense demands on the caregiving parents (Fine, Johnson, Weiner, & Suchindran, 2005;Landsdown, Atherton, Dale, Sproston, & Lloyd, 1986;Lin & Caldwell-Brown, 1996).…”