ABSTRACT
We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and NF1. However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebaldism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.
Subject(s)
Child , Humans , Cafe-au-Lait Spots , Follow-Up Studies , Melanosis , Neurofibromatoses , Neurofibromatosis 1 , Phenotype , Piebaldism , Skin Diseases, Genetic , Twins, DizygoticABSTRACT
Objective@#To observe the efficacy of 755 nm picosecond laser and intense pulsed light in the treatment of facial freckles.@*Methods@#Sixty-six outpatients with freckles were randomly divided into two groups. They were treated with 755 nm picosecond laser (P755 nm) and intense pulsed light (IPL), respectively. Frequent freckles were analyzed before treatment and at 4 week after treatment.@*Results@#Both treatments had good curative effect, but the P755 nm group had better efficacy than the IPL group with significant difference.@*Conclusions@#755 nm picosecond laser and IPL can treat freckles very well, and P755 nm group is superior to IPL.
ABSTRACT
Objective Lab color mode can be used to digitize the color.This study explores the possibility of using Lab model to measure facial pigmentations.Methods Lab color model was used to measure the normal skin and three common clinical pigmentations (Ota nevus,freckles and melasma).We also analyzed the characteristics and assessed the data changes after the treatment.Results Average L,a and b values were 54.4,13.8 and 19.0 in normal skin,34.6,5.17 and 6.9 in Ota nevus,43.25,16.15 and 23.05 in freckles and 40.5,16.8 and 23.35 in melasma,respectively.The Lab values of freckles and melasma were close.The order of L value was:normal skin ＞ freckle ＞ melasma ＞Ota nevus;the order of value of a and b was:melasma ＞ freckle ＞ normal skin ＞ Ota nevus.After treatment,the Lab values gradually tended to be the values of normal skin.Conclusions The Lab color mode can be used as a digital description method for skin color and facial pigmentation,which provides an objective measure for clinical research.
ABSTRACT
La lentiginosis unilateral parcial (LUP) es un raro desorden pigmentario caracterizado por numerosos lentigos, dispuestos en grupo, que se presentan durante la infancia, asintomáticos, y comprometen de manera unilateral un segmento del cuerpo: cabeza, cuello, tronco, extremidades, etc. Pocas veces sobrepasan la línea media, permaneciendo estables en el tiempo. Presentamos cinco casos clínicos y una breve revisión del tema...
Partial Unilateral Lentiginosis (PUL) is a rare pigmentarydisorder characterized by numerous asymptomatic andstable lentigines confined to one side of the body.It begins in childhood, affecting different body segmentsincluding the head, neck, trunk and extremities.Lentigines rarely surpass the midline.We present five cases and briefly review the subject...
Subject(s)
Female , Lentigo , Extremities , Head , Neck , Skin , Skin DiseasesABSTRACT
Objective To report a three-generation Chinese family with freckle and to make a genetic linkage analysis in this family.MethodsGenetic linkage analysis was carried out in this family using microsatellite markers distributed over chromosome 4q and 1.Two-point logarithm of odds(LOD)scores were calculated using the Linkage program package(version 5.1),and haplotype was analyzed with Cyrillic version 2.01 software.Results Freckle was inherited in an autosomal dominant pattern with a penetrance of99.9% in this family;linkage to chromosome 4q was ruled out however,supportive evidence was obtained for linkage to microsatellite markers D1S2635 and D1S2844 in chromosome 1q with a maximum LOD score of 1.50.Haplotype analysis in this family localized the locus of freckle to a 12 Mb region flanked by D1S2624 and D1S2799.Conclusions Freckle is a genetically heterogeneous disorder.The causative gene may be located in a 21.2 cM region on chromosome 1q22-24.