Pruritus causes significant impairment in the quality of life of patients suffering from atopic dermatitis. Treatments for itch in atopic dermatitis range from simple avoidance of pruritus triggers to more complicated systemic therapy. Several treatments aim to target specific mediators of itch in atopic dermatitis, while others improve pruritus by reducing inflammation. Currently, the most effective treatments for atopic dermatitis-associated itch are primarily topical or systemic anti-inflammatory agents. Better management of pruritus in atopic dermatitis is an important goal, and necessitates the development of novel targeted treatments as well as efficient use of current therapies.

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Trichothiodystrophy is a rare autosomal recessive disorder resulting in a broad range of systemic abnormalities. Polarizing microscopy of the hair reveals the pathognomic "tiger tail" of alternating light and dark bands, but the need for a microscope prevents rapid bedside diagnosis. We describe a new technique for the bedside diagnosis of trichothiodystrophy using a handheld polarizing dermatoscope, precluding the need for microscopic examination. that encode a helicase subunit of transcription/repair factor TFIIH.Mutations in C7ORF11, RNF113A, and GTF2E2 result in similar conditions without photosensitivity. 2 In all mutations, low sulfur levels in the hair shaft cause structural abnormalities. With polarizing light microscopy, distinct "tiger tail" banding, consisting of alternating light and dark bands, are seen that are pathognomonic for the disorder. Trichoscopy, dermoscopic analysis of hair, has been used in the diagnosis of multiple hair shaft disorders, including monilethrix, trichorrhexis invaginata, pili torti, woolly hair, and pili annulati, 4 but TTD cannot be diagnosed using simple trichoscopy. Nonspecific surface abnormalities have been reported that may aid in selecting hairs for closer analysis. 5 We describe new methods for the bedside trichoscopic diagnosis of TTD. | CASE REPORTA 2-year-old girl presented with ichthyosis and neurologic decline.Her gestation had been complicated by preeclampsia, resulting in induced delivery at 31 weeks. She was erythrodermic at birth, which self-resolved. She subsequently demonstrated significant delays in growth and cognitive development, ataxia, coarse ichthyosis of the back, and brittle, short hair with periods of significant hair loss.Funduscopic examination was normal. | METHODSTo assess her hair rapidly for TTD, we developed two techniques to mimic polarizing microscopy that we call polarized transilluminating dermoscopy. Hairs with surface irregularities seen using normal in vivo dermoscopy were clipped and placed on a glass slide. 5 In the first method, a light-emitting diode from a cellular telephone was projected through a polarizing dermatoscope to create polarized light (intensity adjusted using tissue paper). After placing the specimen for transillumination, a second polarizing dermatoscope was then used to view the hair sample ( Figure 1A).In the second method, the specimen was placed on a mirror.When simply viewing the specimen using a polarizing dermatoscope, polarizing light reflects off the mirror to transilluminate the target ( Figure 1B).In contrast to simple trichoscopy using a polarizing dermatoscope (Figure 2A), polarizing transilluminating trichoscopy revealed distinct light and dark bands characteristic of trichothiodystrophy ( Figure 2B, C).

Aicardi-Goutières syndrome (AGS) is classically characterized by early-onset encephalopathy. However, in some cases, the presenting symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition. We report the case of three teenage siblings who presented with a lifetime history of chilblain lesions, only one of whom had notable neurologic deficits. Additional findings included acrocyanosis, Raynaud's phenomenon, low-pitch hoarse voice, headache, and arthritis. They were found to have two pathogenic sequence variants in the SAMHD1 gene: a c.602T>A substitution resulting in p.Ile201Asn protein change, previously reported as a pathogenic mutation, as well as a deletion c.719delT which has not been previously reported but results in a predicted pathogenic frame shift mutation. It is important to consider the diagnosis of AGS in patients and families with chilblain lesions in the presence of unexplained neurologic and rheumatic symptoms. © 2016 Wiley Periodicals, Inc.