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In epidermolysis bullosa simplex (EBS), epithelial structural fragility results in blisters and erosions. Diacerein 1% ointment has been shown to reduce this blistering.
To evaluate the efficacy and safety of diacerein 1% ointment in the treatment of EBS.
A double-blind study of 54 patients with EBS were randomized to diacerein 1% or vehicle ointment once daily. The primary endpoint ( ≥60% reduction in body surface area of EBS) and the key secondary endpoint ( ≥2-point reduction in the Investigator’s Global Assessment) were evaluated at 8 weeks.
There was no difference in the proportion of patients achieving either key efficacy endpoint between the diacerein 1% and vehicle groups (P>0.05). No difference in treatment emergent adverse events were noted between the groups. In post hoc analysis stratified by EBS subtypes, an IGA score of 0 or 1 was reported in 6 of 13 patients with severe EBS in the diacerein group (46.2%), compared with 2 of 13 patients with severe EBS in the vehicle group (15.4%); (relative risk= 3.08, 95% CI = 0.71, 13.4).
Although there was no significant difference in outcomes between the groups, further study may elucidate the effects of diacerein on EBS lesions, especially in patients with severe EBS. Teng J, Paller AS, Bruckner AL, et al. Diacerein 1% ointment for the treatment of epidermolysis bullosa simplex: a randomized, controlled trial. J Drugs Dermatol. 2023;22(6):599-604. doi:10.36849/JDD.7108.

Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. All except the one with PA presented with early onset blistering along with laryngeal involvement in the form of hoarseness of voice and nail involvement. Patient with PA presented with aplasia cutis and died in the first week. Two patients had predominantly respiratory and gastrointestinal involvement with varying severity while two had features of myasthenic syndrome but no limb-girdle involvement and one patient phenocopied laryngo-onycho-cutaneous (LOC) syndrome. Using whole-exome sequencing, we identified novel mutations in PLEC. Histopathological analysis (Immunofluorescence antigen mapping) showed absence of staining to plectin antibodies. Our observations propose to append a phenotype of EBS, hoarseness of voice and nail dystrophy or LOC-like phenotype with plectin mutations. Long-term follow up is necessary to monitor for the development of muscular dystrophy.

Epidermolysis bullosa (EB) is a genodermatosis caused by mutations in the proteins of the dermal-epidermal junction, altering the epithelial cohesion, and generating blisters and shedding of skin and mucous membranes.
To describe the demographic and clinical characteristics, as well as the main complications of patients with EB attended at the National Institute of Pediatrics, in Mexico City.
An observational, descriptive, retrospective and cross-sectional study was conducted in patients under 18 years of age with diagnosis of EB. Patients with incomplete, purged or archived records were excluded.
We included 35 patients, 17 men and 18 women with an average age of 8.94 ± 4.9 years. Patients were classified as dystrophic EB (71.4%), EB simplex (17%), junctional EB (2.9%) and Kindler syndrome (2.9%). All patients presented skin manifestations, followed by manifestations in oral mucosa (74.3%), nutritional (54.2%), gastrointestinal (51.4%), hematological (40%), ophthalmological (37.1%), musculoskeletal (34.2%) and psychosocial symptoms (34.2%). The degree of severity was variable according to the subtype; junctional EB and dystrophic EB are those that generate greater affection and comorbidity.
EB is a serious multisystem genetic disease, which is why it requires an early diagnosis and a timely detection of complications.
La epidermólisis ampollosa (EA) es una genodermatosis causada por mutaciones en proteínas de la unión dermoepidérmica que alteran la cohesión epitelial y generan ampollas y desprendimiento de piel y mucosas.
Describir las características demográficas y clínicas, así como las principales complicaciones, de los pacientes con EA atendidos en el Instituto Nacional de Pediatría, en Ciudad de México.
Se realizó un estudio observacional, descriptivo, retrospectivo y transversal en pacientes menores de 18 años con diagnóstico de EA. Se excluyeron los pacientes con expedientes incompletos, depurados o archivados.
Se incluyeron 35 pacientes, 17 hombres y 18 mujeres, con edad media de 8.94 años (desviación estándar: 4.9), que se clasificaron como EA distrófica (71.4%), EA simple (17%), EA de unión (2.9%) o síndrome de Kindler (2.9%). Todos los pacientes presentaron manifestaciones en la piel, seguidas por manifestaciones en la mucosa oral (74.3%), nutricionales (54.2%), gastrointestinales (51.4%), hematológicas (40%), oftalmológicas (37.1%), musculoesqueléticas (34.2%) y psicosociales (34.2%). La gravedad fue variable de acuerdo con el subtipo; la EA de unión y la EA distrófica son las que generan mayor afectación y comorbilidad.
La EA es una enfermedad genética multisistémica grave, por lo que es fundamental su diagnóstico temprano y la detección oportuna de complicaciones.

OBJECTIVE: Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB.
METHODS: Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital\'s dermatology department from January 2, 2000, to February 28, 2021.
RESULTS: A total of 214 cases were studied. The median (interquartile range) age was 17 (8-32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died.
CONCLUSIONS: Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB.

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.
OBJECTIVE: 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.
CONCLUSIONS: Along 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.

Epidermolysis bullosa simplex (EBS) is a rare genetic, blistering skin disease for which there is no cure. Treatments that address the pathophysiology of EBS are needed.
Compare the impact of 1% diacerein cream with placebo in reducing the number of blisters in EBS.
In a randomized, placebo-controlled, phase 2/3 trial we used a 1% diacerein topical formulation to treat defined skin areas in 17 patients. In a 2-period crossover trial, patients were randomized to either placebo or diacerein for a 4-week treatment and a 3-month follow-up in period 1. After a washout, patients were crossed over during period 2. The prespecified primary end point was the proportion of patients with a reduction of number of blisters by more than 40% from baseline in selected areas over the treatment episode.
Of the patients receiving diacerein, 86% in episode 1 and 37.5% in episode 2 met the primary end point (vs 14% and 17% with placebo, respectively). This effect was still significant after the follow-up. Changes in absolute blister numbers were significant for the diacerein group only. No adverse effects were observed.
Low patient numbers and no invasive data acquisition because of clinical burden in children.
This trial provides evidence of the impact of 1% diacerein cream in the treatment of EBS.

OBJECTIVE: To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).
METHODS: Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls.
RESULTS: Target region sequencing showed that the proband has carried a unreported heterozygous c.1234A>G (p.Ile412Val) mutation of the KRT14 gene, which was confirmed by Sanger sequencing in other 8 affected individuals but not among healthy members of the pedigree. Bioinformatics analysis indicated that the mutation is highly pathogenic. Remarkably, 3 members of the family (2 affected and 1 unaffected) have carried a heterozygous c.1237G>A (p.Ala413Thr) mutation of the KRT14 gene, which was collected in Human Gene Mutation Database (HGMD). Bioinformatics analysis indicated that the mutation may not be pathogenic. Both mutations were not detected among the 100 healthy controls.
CONCLUSIONS: The novel c.1234A>G(p.Ile412Val) mutation of the KRT14 gene is probably responsible for the disease, while c.1237G>A (p.Ala413Thr) mutation of KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region capture sequencing is more efficient and can significantly reduce the cost of genetic testing for EBS.

BACKGROUND: Epidermolysis bullosa simplex is a skin-blistering disorder caused by mutations in keratin (K)14 or K5. Treatment with nuclear factor (erythroid-derived 2)-like 2 inducer sulforaphane ameliorated skin blistering in Krt14-null mice, correlating with induction of K17. To be therapeutically useful for epidermolysis bullosa simplex, topical broccoli sprout extract (BSE), enriched for sulforaphane, would ideally induce the expression of homologous keratins (eg, K6, K17, K16) in the basal layer of human epidermis without impacting expression of defective keratins (K5/K14).
OBJECTIVE: The purpose of this 1-week, randomized, split-body, single-blinded, placebo-controlled trial was to assess the impact of BSE on keratin expression.
METHODS: Five subjects (34-71 years old) applied BSE (500 nmol of sulforaphane/mL) or vehicle alone to the inner aspect of the arm daily. Expression of keratin, nuclear factor (erythroid-derived 2)-like 2, and other markers was assessed using reverse transcription-polymerase chain reaction and indirect immunofluorescence.
RESULTS: One subject (age 71 years) was excluded a posteriori because of poor tissue quality. Topical BSE activated nuclear factor (erythroid-derived 2)-like 2 and up-regulated K17 in the epidermis of all subjects, had variable effects on K16 and K6 expression, and did not alter expression of K14 or K5.
CONCLUSIONS: Small sample size is a limitation.
CONCLUSIONS: BSE represents an attractive therapeutic candidate for K14-associated epidermolysis bullosa simplex.

BACKGROUND: Laser toning using low-fluence 1064-nm Q-switched neodymium-doped yttrium aluminum laser (QSNY) has gained popularity in the treatment of photoaging-associated mottled pigmentation (PMP). However, hypopigmentation or lack of efficacy has been reported depending on the fluences used.
OBJECTIVE: To compare a novel fractional 1064-nm QSNY with conventional 1064-nm QSNY for the treatment of photoaging-associated mottled pigmentary lesions except epidermal lesions of lentigines and freckles through a randomized, split-face, double-blind study.
METHODS: Thirteen Asian women were treated every week for 6 weeks with fractional 1064-nm QSNY on one side of the face and conventional 1064-nm QSNY on the other side. We evaluated the pigmentation area and severity index (PSI), melanin index, erythema index, and the patient\'s global assessment of improvement.
RESULTS: At three months post-treatment, the PSI score improved compared with baseline, by 14.48% on the conventional 1064-nm QSNY side and 21.81% on the fractional 1064-nm QSNY side. Both groups showed improvements in the melanin index.
CONCLUSIONS: Both fractional 1064-nm QSNY and strictly low-fluence conventional 1064-nm QSNY are moderately effective against PMP and other photoaging signs. Fractional laser toning shows better subjective outcomes than conventional toning.