Annals of dermatology最新文献

Background: Alopecia areata (AA) is considered complex genetic and tissue-specific autoimmune disease. We recently discovered a nonsynonymous variant in the coiled-coil alpha-helical rod protein 1 (CCHCR1) gene within the AA risk haplotype. And a water avoidance stress test on CCHCR1 knockout mice induced AA-like lesions.

Objective: To investigate the difference clinical findings of AA in patients with the CCHCR1 variant and without.

Methods: We conducted a retrospective analysis of the data from 142 AA patients. Among these patients, 20 (14.1%) had a variant of CCHCR1. We evaluated the sex distribution of the patients, age at onset, distribution of the clinical types, prevalence of a positive family history of AA, prevalence of association of AA with atopic dermatitis, response to steroid therapy, and recurrence rate. We used multivariate logistic regression analysis and Fisher's exact test for statistical analysis. We also investigate electron microscopic observations of hair samples with the CCHCR1 variant and without.

Results: The results showed a significant correlation between the CCHCR1 variant and the recurrence rate compared with the variant-negative group (p=0.0072). Electron microscopy revealed abnormalities in the hair shaft structure and hair cuticle in patients with the CCHCR1 variant (p=0.00174).

Conclusion: Our results suggest that AA with CCHCR1 variant is clinically characterized by a high recurrence rate and hair morphological abnormality.

Background: Male androgenetic alopecia (MAGA) is often accompanied by female pattern hair loss (FPHL). However, the risk factors related to MAGA with FPHL are unclear.

Objective: To investigate demographic and laboratory factors related to MAGA with FPHL.

Methods: This retrospective case-control study was performed in a single tertiary care center for MAGA with FPHL between March 2012 and September 2021. Eligible patients were males >12 years old diagnosed with androgenetic alopecia by a dermatologist. The patients were subdivided into MAGA with FPHL and MAGA without FPHL groups. Comorbidities as well as demographic, laboratory, and disease-specific variables were compared between the two groups. Data analysis was conducted between October 2021 and February 2022. The independent samples t-test, Mann-Whitney U test, and chi-squared test were used to assess the factors that contributed to MAGA with FPHL.

Results: Of 469 patients with MAGA, 309 (65.9%) had FPHL, which was a much higher rate than previously reported. Among the variables, only matrilineal (odds ratio, 1.605; 95% confidence interval, 1.014~2.541) and maternal history (odds ratio, 4.705; confidence interval, 1.632~13.559) of androgenetic alopecia were significantly associated with MAGA with FPHL. In the MAGA with FPHL group, a significant positive correlation was noted between body mass index and the type F score (r=0.114, p=0.025).

Conclusion: In this case-control study, patients with MAGA and a maternal history of androgenetic alopecia were at risk of FPHL. Therefore, early screening may benefit these patients.

Rubinstein-Taybi syndrome (RSTS) is an extremely rare genetic disorder affecting multi-organ systems. A tendency to form keloid is one of the common dermatologic manifestations. We describe a 23-year-old female presented with extensive keloids which developed spontaneously. She had typical facial features, broad thumbs, and dental defects, which were suspicious features of genetic syndrome. Direct sequencing for cyclic-AMP-regulated enhancer binding protein revealed a novel mutation. So far, 23 cases of RSTS have been reported in Korean literature. To the best of our knowledge, this is the first report in Korea to describe confirmed case of RSTS with extensive keloids as a chief manifestation.

Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is an extremely rare, indolent skin malignancy that can be difficult to distinguish from autoimmune disease-associated panniculitides. Here, we describe a 12-year-old boy who was diagnosed at age 7 years with dermatomyositis with classical manifestations, including poikiloderma, Gottron's sign, and symmetric muscle weakness. Recently, the boy presented multiple subcutaneous nodules and fever. Histopathological examination and immunohistochemical staining revealed coexistence of SPTL. To our knowledge, this is the first case of dermatomyositis accompanied with SPTL. This case alert clinical physicians of the possibility of SPTL should be considered when a patient with dermatomyositis has new lesions presenting as nodules and unknown fever.