Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.

BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.

Is It Possible for Light-Based Hair Removal Home Devices to Induce Ocular Damage? Systematic Review.

Light-based hair removal home devices emit intense pulse light (IPL) or Diode laser. While the Food and Drug Administration controls them in the US, Europe continues to classify them as cosmetic products. Emerging concerns are: what if an unprotected eye is inadvertently exposed to light emission? Or if the consumer tries to overcome the protective safety features? We performed this systematic review by searching the Medline, CENTRAL, and Google Scholar databases to investigate the ocular damage reported after exposure to IPL for hair removal. We could not identify any case reported following exposure to home devices; however, a total of 20 patients were identified with iris atrophy, anterior chamber inflammation, and/or retinal pigment epithelium damage following exposure to office IPL or Diode lights. 40% were not using any protective eyewear during the light procedure. The reported fluences were in the range of 20-24 J/cm2. Although the ocular damage was identified following office devices, the reported fluences were within the home device's limits. For that, manufacturers should provide clear instructions on the package regarding the ocular hazards, the importance of using protective goggles, and a firm warning not to overcome the contact sensors. Home device-induced ocular damage is still a concern, perhaps under-reported.

Hemorrhagic Vesiculobullous Lesions of Ecthyma Gangrenosum in a Diabetic Patient with Myelofibrosis: A Rare Presentation of Septic Shock without Pseudomonas aeruginosa Bacteremia.

BACKGROUND Ecthyma gangrenosum is a rare skin lesion associated with Pseudomonas aeruginosa, an aerobic gram-negative opportunistic bacterial pathogen. In non-bacteremia patients, sepsis is not a common complication. Immunocompromised patients are more commonly affected. If diagnosis and therapy are delayed, the mortality rate is 18-96%. This report is of a 52-year-old man with diabetes mellitus and myelofibrosis presenting with hemorrhagic vesiculobullous lesions of ecthyma gangrenosum on the upper and lower extremities, oral mucosa, and anogenital area with, interestingly, no associated Pseudomonas aeruginosa bacteremia. CASE REPORT A 52-year-old diabetes patient with myelofibrosis presented with hemorrhagic vesiculobullous and necrotic eschar-covered erosions over the upper and lower extremities, oral mucosa, and anogenital area. Although he appeared septic looking initially, with signs of end-stage organ failure, and he was later determined to have septic shock, the clinical diagnosis was not possible without a positive culture swab of the cutaneous lesions showing growth of Pseudomonas aeruginosa. The diagnosis of cutaneous ecthyma gangrenosum-induced septic shock was confirmed, though bacteremia was not detected. This patient was successfully managed with the early initiation of proper antibiotics. CONCLUSIONS Early detection and vigilance when confronted with the clinical presentation of ecthyma gangrenosum are a vital part of patient management to reduce the high mortality risk of the disease. Although bacteremia is associated with a high risk for fatalities, cutaneous ecthyma gangrenosum can be complicated by septic shock and serious adverse events. The involvement of multidisciplinary teams in patient management is an essential aspect of ecthyma gangrenosum disease management.

Low-dose oral isotretinoin for the treatment of adult patients with mild-to-moderate acne vulgaris: Systematic review and meta-analysis.

Acne vulgaris is one of the most common dermatologic complaints. Recently, isotretinoin has been used as an off-label indication for the treatment of mild-to-moderate grades of acne not responding to conventional treatment. Its conventional recommended dose is 0.5-1.0 mg/kg per day to the cumulative dose of 120-150 mg/kg. To qualify the state of evidence and analyze the efficacy of the low-daily dose and the pulsed doses of isotretinoin in treating mild-to-moderate acne patients with regards to response and relapse rates. Systematic review and meta-analysis using an electronic literature search were performed. The 320 potentially relevant articles were included and reviewed. The level of evidence is moderate to low as conducted by the GRADE quality of evidence assessment. The pooled statistical estimate for response to treatment in the group comparing low-daily doses with conventional dose showed an overall benefit for conventional dose. On the other hand, pooled data from the group comparing the low-daily dose with the pulsed doses yielded an overall beneficial effect from using the low-daily dose compared with the pulsed doses on achieving the response. Given all of the available studies, the quality of evidence is low. It appears that conventional dose isotretinoin improves the odds of prolonged remission in adults with mild-to-moderate acne vulgaris compared to the low doses.

Generalized Pustular Figurate Erythema in Patients with COVID-19 Treated with Hydroxychloroquine: A Systematic Review.

severe distinctive cutaneous drug reaction, generalized pustular figurate erythema, closely linked with hydroxychloroquine (HCQ), has been documented. It is distinguishable from AGEP by its longer incubation, more varied morphology (initially urticarial and later targetoid, arcuate plaques), recalcitrance to therapy and longer disease course. Aim of the article is to review the recognized entity associated with ingestion of hydroxychloroquine in patients infected with COVID-19. A systematic review using electronic search was performed. Inclusion criteria: n patients with COVID-19 demonstrated by PCR, with typical clinical features of AGEP/GPFE or atypical features associated with typical histopathology. We used the (JBI) Critical Appraisal Checklist for Case Reports for the qualitive assessment. We included 13 publications. Their overall quality was good to moderate. Only 27.3% of the patients had a severe COVID-19 course. The mean lag time between trigger exposure and rash development was 24 days. Only 15.38% of the reported AGEP were clinically typical, while the remaining 69.23 % were suggestive of GPFE. Unfortunately, 2 patients died secondary to massive pulmonary embolism. In COVID-19 infection, we suggest reconsidering treating established COVID-19 empirically with HCQ, as both triggers can augment the subsequent cytokine storm, inducing a severe drug reaction and possibly increasing the risk of thrombo-embolic events.