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A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on Acitretin Treatment  [PDF]
Xi-Bao Zhang, Chang-Xing Li, Xue-Mei Li, Yu-Qing He, Xiao Xu, Quan Luo
Journal of Cosmetics, Dermatological Sciences and Applications (JCDSA) , 2012, DOI: 10.4236/jcdsa.2012.23027
Abstract: Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good respond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn’t happen in the patient. The serum lipid profile, liver function and renal function within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.
Debilitating Darier's disease
Brodell, David W.,Frisch, Lawrence E.,Brodell, Robert T.
Signa Vitae , 2007,
Abstract: Darier's disease is an inherited dermatitis that is due to a mutation in the ATP2A2 gene. This mutation causes disrupted signaling within cells and leads to a skin condition that is resistant to many dermatologic treatments. Though serious complications are rare, Darier's disease can result in bacterial sepsis and Kaposi's varicelliform eruption. In some families seizure disorders are linked to Darier's disease. There is also a paraneoplastic variant that could be considered in patients without a family history of Darier's disease. This article reports a case with typical verrucous masses and waxy papules which, over twenty years, became disabling. Symptoms included pruritus and foul odor and were relieved, along with the keratotic rash, utilizing systemic treatment with acitretin though the condition recurred rapidly when treatment was interrupted. Darier's disease must be considered when patients present with hyperkeratotic lesions that are resistant to usual forms of therapy for inflammatory dermatoses.
Unilateral darier′s disease  [cached]
Singh Ravi,Singh Sanjay,Pandey S
Indian Journal of Dermatology, Venereology and Leprology , 1996,
Abstract: Various variations of Darier′s disease have been mentioned in the literature. Here we describe a young male with unilateral involvement with clinical and histopathological features typical of Darier′s disease.
Comparative genomics and phylogenetic discordance of cultivated tomato and close wild relatives  [PDF]
Susan R Strickler,Aureliano Bombarely,Jesse D Munkvold,Naama Menda,Gregory B Martin,Lukas A Mueller
PeerJ , 2015, DOI: 10.7287/peerj.preprints.377v1
Abstract: Background Studies of ancestry are difficult in tomato because it crosses with many wild relatives and species in the tomato clade have diverged very recently. As a result, the phylogeny in relation to its closest relatives remains uncertain. By using coding sequence from Solanum lycopericum, S. galapagense, S. pimpinellifolium, S. corneliomuelleri, and S. tuberosum and genomic sequence from two of cultivated tomato’s closest relatives, S. galapagense and S. pimpinellifolium, as well as an heirloom line, S. lycopersicum ‘Yellow Pear’, we have aimed to resolve the phylogenies of these closely related species as well as identify phylogenetic discordance in the reference cultivated tomato. Results Divergence date estimates suggest divergence of S. lycopersicum, S. galapagense, and S. pimpinellifolium happened less than 0.5 MYA. Phylogenies based on 8,857 coding sequences support grouping of S. lycopersicum and S. galapagense, although two secondary trees are also highly represented. A total of 29 genes in our analysis showed evidence of selection along the S. lycopersicum lineage. Whole genome phylogenies showed that while incongruence is prevalent in genomic comparisons between these accessions, likely as a result of incomplete lineage sorting and introgression, a primary phylogenetic history was strongly supported. Conclusions Based on analysis of these accessions, S. galapagense appears to be closely related to S. lycopersicum, suggesting they had a common ancestor prior to the arrival of an S. galapagense ancestor to the Galápagos Islands, but after divergence of the sequenced S. pimpinellifolium. Genes showing selection along the S. lycopersicum lineage may be important in domestication. Further analysis of intraspecific data in these species will help to establish the evolutionary history of cultivated tomato. The use of an heirloom line is helpful in deducing true phylogenetic information of S. lycopersicum and identifying regions of introgression from wild species.
Identification of Close Relatives in the HUGO Pan-Asian SNP Database  [PDF]
Xiong Yang, Shuhua Xu, The HUGO Pan-Asian SNP Consortium
PLOS ONE , 2011, DOI: 10.1371/journal.pone.0029502
Abstract: The HUGO Pan-Asian SNP Consortium has recently released a genome-wide dataset, which consists of 1,719 DNA samples collected from 71 Asian populations. For studies of human population genetics such as genetic structure and migration history, this provided the most comprehensive large-scale survey of genetic variation to date in East and Southeast Asia. However, although considered in the analysis, close relatives were not clearly reported in the original paper. Here we performed a systematic analysis of genetic relationships among individuals from the Pan-Asian SNP (PASNP) database and identified 3 pairs of monozygotic twins or duplicate samples, 100 pairs of first-degree and 161 second-degree of relationships. Three standardized subsets with different levels of unrelated individuals were suggested here for future applications of the samples in most types of population-genetics studies (denoted by PASNP1716, PASNP1640 and PASNP1583 respectively) based on the relationships inferred in this study. In addition, we provided gender information for PASNP samples, which were not included in the original dataset, based on analysis of X chromosome data.
Enfermedad de Darier-White tratada con isotretinoína oral
Eimer,Lena; Lagodin,César; Bonavia,Paula; Stringa,Matías; Rébora,Ignacio; Anaya,Javier;
Archivos argentinos de pediatr?-a , 2011,
Abstract: darier-white disease (dwd) is an autosomal dominant disorder, described by darier and white in 1889, characterized by abnormal keratinization in the epidermis, nails and mucosae. we present the case of a 16-year-old, male patient, with clinically and histologically confrmed dwd treated with oral isotretinoin (0.7 mg/kg/day) for six months, with good response. we recommend an optional therapeutic treatment for chronic, itchy, recalcitrant lesions with oral retinoids.
Acitretin Treatment for Lipoid Proteinosis  [PDF]
?zgür Gündüz,Neriman ?ahiner,P?nar Atasoy,?a?r? ?enyücel
Case Reports in Dermatological Medicine , 2012, DOI: 10.1155/2012/324506
Abstract: Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved. 1. Introduction LP, first described in 1929 [1], is a rare, progressive autosomal-recessive disease. As of today, approximately 300 cases are reported in the literature. Although in the 1970s South Africa was known to have the largest group of LP patients [2], most of the recently reported case series are from the Mediterranean or Middle Eastern countries like Turkey [3], Tunisia [4], and Saudi Arabia [5]. Skin and upper respiratory tract mucosa are the most prominently affected sites. Common clinical manifestations of LP are weak cry and hoarseness in infancy and widespread scarring and infiltrated plaques on mucosal surfaces and skin, especially at the sites of minor trauma and on sun-exposed areas, later in life. Histopathological evaluation of lesional biopsies shows accumulation of hyaline-like material in dermis and disruption of basement membrane, characteristic histopathological features for LP [6]. Although various therapeutic approaches have been suggested for the treatment, results are mostly conflicting and a definite therapy regimen has yet to be established. 2. Case History A 21-year-old female presented with diffuse, facial papules, plaques, and atrophic scars. Initial scarring had begun on her face six years ago and then progressed to her shoulders and arms. In addition, she had a history of weak cry during infancy and hoarseness since birth. During dermatological examination, yellowish tinge and waxy texture of her face were noted. Extensive atrophic scars, glossy, infiltrated, yellow papules, and plaques were present on her forehead and cheeks (Figures 1(a) and 1(b)) and beaded papules on the
Darier′s disease and depigmented macules  [cached]
Tolat S,Agarwal S,Borkar M,Ghosh S
Indian Journal of Dermatology, Venereology and Leprology , 1993,
Abstract: A case of Darier′s disease with depigmented macules; an extremely rare feature of the disease is reported. A familial occurrence of these lesions is highlighted. The probable pathogenesis and some unusual characteristics of these leukodermic macules is discussed.
Darier′s disease and depigmented macules  [cached]
Tolat S,Agarwal S,Borkar M,Ghosh S
Indian Journal of Dermatology, Venereology and Leprology , 1994,
Abstract: A case of Darier′s disease with depigmented macules and extremely rare feature of the disease is reported. A familial occurrence of these lesions is highlighted. The probable pathogenesis and some unusual characteristics of these leukodermic macules are discussed.
Genetic variability in apomictic mangosteen (Garcinia mangostana) and its close relatives (Garcinia spp.) based on ISSR markers  [PDF]
SOBIR,ROEDHY POERWANTO,EDY SANTOSA,SOALOON SINAGA
Biodiversitas , 2011,
Abstract: Sobir, Poerwanto R, Santosa E, Sinaga S, Mansyah E (2011) Genetic variability in apomictic mangosteen (Garcinia mangostana) and its close relatives (Garcinia spp.) based on ISSR markers. Biodiversitas 12: 59-63. In order to reveal phylogenetic relationship of mangosteen and several close relatives (Garcinia spp.), we employed seven ISSR dinucleotide primer systems on eleven close relatives of mangosteen and 28 mangosteen accessions from four islands in Indonesia (Sumatra, Java, Kalimantan and Lombok). ISSR analysis successfully amplified 43 bands on average 6.1 fragments for each primer system, and these all fragments were polymorphic. Seven close relatives of mangosteen were separated with mangosteen accessions at 0.22 level of dissimilarity, while other four including G. malaccensis, were clustered with mangosteen accessions, this results supported proposal that G. malaccensis was allopolyploid derivative of mangosteen. Clustering pattern among mangosteen accessions, however, not represented their origin, indicated that distribution of the accessions was not linked to their genetic properties.
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