Nevus of Ota has been successfully treated by lasers. Currently, 1064 nm picosecond Nd:YAG lasers have become available for the treatment of pigmented disorders. However, there are few studies concerning the application of 1064 nm picosecond Nd:YAG laser in nevus of Ota. This study aimed to evaluate the efficacy and safety of a 1064 nm picosecond Nd:YAG laser for the treatment of nevus of Ota. We conducted a retrospective analysis of Chinese patients with nevus of Ota who had been treated with a 1064 nm picosecond Nd:YAG laser. Those who had any other laser treatment during the period of picosecond laser treatment were excluded. Via a visual analog scale for percentage of pigmentary clearance in standard photographs, the treatment efficacy was assessed by three blinded physician evaluators. A total of 16 subjects were included in this retrospective study. The average age at the beginning of treatment was 16.87 years old (range of 4 months to 59 years), and all patients were of Fitzpatrick skin type IV. Total treatment ranged from 1 to 5 sessions.A 1064 nm picosecond Nd:YAG laser with a mean fluence of 1.8-4.3 J/cm 2 was used at 3-12 month intervals. The mean efficacy score for all 16 patients was 2.56 after one session, and the mean efficacy score of 13 patients who completed two sessions and nine patients who completed three sessions were 3.15 and 3.51, respectively.
Introduction:
Multiple familial trichoepithelioma is a rare autosomal dominant genodermatosis caused by a mutation in the CYLD gene. This disease is characterized by the development of multiple skin-colored papules and nodules mainly on the central face. We herein describe a family with multiple familial trichoepithelioma with a novel frameshift mutation in CYLD.
Case presentation:
The proband was an 8-year-old girl who presented with a 2-year history of numerous progressive, asymptomatic, firm skin-colored papules on her nasal dorsum, nasolabial folds, and eyelids. Histopathological examination was compatible with the typical findings of trichoepithelioma. Her father displayed similar but inconspicuous smaller lesions on the face. Mutation analysis of the proband identified a heterozygous frameshift mutation c.1181_1182insCTTTGAC (p.D394fs) in exon 10 of CYLD. This mutation was also detected in the proband’s father, but not in either her mother or 100 unrelated control individuals
Discussion:
There is no obvious genotype–phenotype correlation in patients with multiple familial trichoepithelioma. In our study, the girl had a severe clinical appearance characterized by facial disfiguration, whereas her father had inconspicuous smaller lesions despite having the same mutation. We also identified a novel frameshift mutation c.1181_1182insCTTTGAC (p.D394fs) in exon 10 of the CYLD gene. The presence of this mutation leads to premature translation termination and thus to the synthesis of a truncated protein.
Conclusion:
We found a novel frameshift mutation of the CYLD gene in a Chinese family, thus expanding the database of CYLD gene mutations in multiple familial trichoepithelioma.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.