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.