European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I hypersensitivity and eQTL associations in blood. At each locus we prioritised candidate genes by integrating multi-omic data. The implicated genes are predominantly in immune pathways of relevance to atopic inflammation and some offer drug repurposing opportunities.</p

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I hypersensitivity and eQTL associations in blood. At each locus we prioritised candidate genes by integrating multi-omic data. The implicated genes are predominantly in immune pathways of relevance to atopic inflammation and some offer drug repurposing opportunities

Rosacea-like eruption due to topical pimecrolimus

Topical calcineurin inhibitors have been used outside their approved indications for a number of conditions, including topical steroid-induced rosacea. However, tacrolimus ointment itself has been reported to trigger rosacea in a small number of cases. We report a case of a rosacea-like eruption in a 39-year-old woman occurring after the use of pimecrolimus cream for 12 months for atopic dermatitis. Withdrawal of pimecrolimus combined with treatment with oral lymecycline, topical metronidazole, and an emollient resulted in resolution of the eruption. There have been 5 previously reported cases of a topical pimecrolimus-induced rosacea-like eruption suggesting that this rare side-effect may be a class effect of all topical calcineurin inhibitors. Dermatologists prescribing these drugs should be aware of this uncommon complication and may wish to warn patients of its occurrence as a potential side-effect when using topical calcineurin inhibitors in facial skin in adults

Habit tic nail deformity - a rare presentation in an 8 year old boy

Habit tic nail deformity is a nail dystrophy resulting from habitual, repetitive trauma to the nail. It is usually acquired in adulthood, however, we report a case of habit tic nail deformity in an 8 year old boy. The diagnosis was made clinically with further history revealing that the boy repeatedly rubbed his thumbnails and pushed the cuticles. Emollient cream (Balneum®) was recommended twice daily and both the patient and his mother were educated on the behavioral nature of this condition. There was marked improvement at 6 months of treatment and further improvement at 12 months.We note that habit tic nail deformity is not exclusive to adults. Diagnosis can be made clinically. History and physical examination provide valuable clues and psychosocial links must be explored and addressed. Management is challenging and compliance with treatment is variable. Patient education, barrier methods, and behavioral therapy can be helpful in preventing further trauma to the nails.</p

Habit tic nail deformity - a rare presentation in an 8 year old boy

Habit tic nail deformity is a nail dystrophy resulting from habitual, repetitive trauma to the nail. It is usually acquired in adulthood, however, we report a case of habit tic nail deformity in an 8 year old boy. The diagnosis was made clinically with further history revealing that the boy repeatedly rubbed his thumbnails and pushed the cuticles. Emollient cream (Balneum®) was recommended twice daily and both the patient and his mother were educated on the behavioral nature of this condition. There was marked improvement at 6 months of treatment and further improvement at 12 months.We note that habit tic nail deformity is not exclusive to adults. Diagnosis can be made clinically. History and physical examination provide valuable clues and psychosocial links must be explored and addressed. Management is challenging and compliance with treatment is variable. Patient education, barrier methods, and behavioral therapy can be helpful in preventing further trauma to the nails

Rosacea-like eruption due to topical pimecrolimus

Topical calcineurin inhibitors have been used outside their approved indications for a number of conditions, including topical steroid-induced rosacea. However, tacrolimus ointment itself has been reported to trigger rosacea in a small number of cases. We report a case of a rosacea-like eruption in a 39-year-old woman occurring after the use of pimecrolimus cream for 12 months for atopic dermatitis. Withdrawal of pimecrolimus combined with treatment with oral lymecycline, topical metronidazole, and an emollient resulted in resolution of the eruption. There have been 5 previously reported cases of a topical pimecrolimus-induced rosacea-like eruption suggesting that this rare side-effect may be a class effect of all topical calcineurin inhibitors. Dermatologists prescribing these drugs should be aware of this uncommon complication and may wish to warn patients of its occurrence as a potential side-effect when using topical calcineurin inhibitors in facial skin in adults. </p

Habit tic nail deformity - a rare presentation in an 8 year old boy

Habit tic nail deformity is a nail dystrophy resulting from habitual, repetitive trauma to the nail. It is usually acquired in adulthood, however, we report a case of habit tic nail deformity in an 8 year old boy. The diagnosis was made clinically with further history revealing that the boy repeatedly rubbed his thumbnails and pushed the cuticles. Emollient cream (Balneum®) was recommended twice daily and both the patient and his mother were educated on the behavioral nature of this condition. There was marked improvement at 6 months of treatment and further improvement at 12 months.We note that habit tic nail deformity is not exclusive to adults. Diagnosis can be made clinically. History and physical examination provide valuable clues and psychosocial links must be explored and addressed. Management is challenging and compliance with treatment is variable. Patient education, barrier methods, and behavioral therapy can be helpful in preventing further trauma to the nails