Abstract:
:Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrome.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Nanda A,Kanwar AJ,Kapoor MM,Thappa DM,Radotra BD,Vaishnavi C,Kaur Sdoi
10.1111/j.1525-1470.1989.tb00919.xsubject
Has Abstractpub_date
1989-12-01 00:00:00pages
325-8issue
4eissn
0736-8046issn
1525-1470journal_volume
6pub_type
杂志文章abstract::A boy with junctional epidermolysis bullosa died from acute laryngeal obstruction at the age of 29 months, having been hoarse since early infancy. Post mortem studies showed gross narrowing of the laryngeal airway by cystic dilatations of the ducts of the seromucinous glands, and replacement of the laryngeal epitheliu...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1987.tb00760.x
更新日期:1987-08-01 00:00:00
abstract::Down syndrome is the most common chromosomal abnormality affecting numerous organs, including the skin. Our aim was to study mucocutaneous findings in this syndrome. To do so, 100 children with Down syndrome attending Schools for Children with Special Educational Needs and centers affiliated to the Welfare and Rehabil...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00412.x
更新日期:2007-05-01 00:00:00
abstract::We examined a father and son affected by Ehlers-Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hyperlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterat...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1987.tb00778.x
更新日期:1987-11-01 00:00:00
abstract::A 3-year-old girl presented with longer hair on the left side of her scalp, coarse hair of abnormal length on her extremities, and a tuft of hair in the lumbosacral region, with all hair distributed on normally pigmented skin. Neither similar or relevant family history nor associated extracutaneous abnormalities was d...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.00948.x
更新日期:2009-07-01 00:00:00
abstract::Scar formation is a physiologic reaction to dermal injury. We describe a 11-year-old girl and her 15-year-old cousin, who both presented with stellate scarlike lesions primarily located on the hands. Histopathologic examination confirmed scar tissue formation. There was no history of initiating trauma or other possibl...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00644.x
更新日期:2008-03-01 00:00:00
abstract::Transient reactive papulotranslucent acrokeratoderma is a rare palmoplantar keratoderma seen predominantly in adolescent and young adult women. Clinically it is characterized by translucent white papules generally involving the palmar surfaces after exposure to water. The typical "hands-in-the-bucket" sign, which is n...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2006.00168.x
更新日期:2006-01-01 00:00:00
abstract::Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder. We used whole-exome sequencing to identify the molecular basis of APSS in a consanguineous Jordanian-American pedigree. We identified a homozygous nonsense mutation (p.Lys22X) in the CSTA gene, encoding cystatin A, that was conf...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12092
更新日期:2013-09-01 00:00:00
abstract::Onychomycosis is widespread in the adult population, but considered to be rare in children. A number of studies in recent years show a rise in the prevalence of toenail onychomycosis in children. Of these, only a few were population-based. Here, we present a comprehensive cross-sectional population-based survey of toe...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00832.x
更新日期:2009-01-01 00:00:00
abstract::Trichothiodystrophy (TTD) is a hair abnormality that may be associated with a large number of alterations affecting the skin phenotype and skin appendages, nervous system, eyes, bones, and immune, gonadal, and endocrine systems. We report the first case of TTD associated with a urologic malformation and primary hyperc...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1997.tb00685.x
更新日期:1997-11-01 00:00:00
abstract::Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern simi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12339
更新日期:2014-09-01 00:00:00
abstract::Congenital erythropoietic porphyria is a rare form of porphyria, presenting during the neonatal period or during infancy. Clinical features include photosensitive blistering and severe anemia. Wood's lamp fluorescence of the diaper is a useful screening test. We describe a severely affected neonate with systemic invol...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01376.x
更新日期:2011-07-01 00:00:00
abstract::Trichostasis spinulosa is a disorder of the pilosebaceous follicles that may simulate acne open comedones. It is a commonly reported cosmetic annoyance in adults but not children. A review of the literature and a case of trichostasis spinulosa in a 13-year-old black girl with a history of onset at 18 months of age are...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1996.tb00731.x
更新日期:1996-11-01 00:00:00
abstract::Fixed drug eruption (FDE) is manifested as localized, circumscribed, round or oval plaques that characteristically recur in the same site with each use of the offending drug. The drugs most commonly implicated are phenolphthalein, barbiturates, antibiotics, salicylates, contraceptives, and anticonvulsants. FDE can app...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2002.00078.x
更新日期:2002-05-01 00:00:00
abstract::Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psychomotor delay. The asso...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2012.01830.x
更新日期:2013-07-01 00:00:00
abstract::Two hundred and sixty-eight children with pediculosis capitis took part in a comparative study to test the efficacy of five different pediculocides commonly used in Israel. The preparations used were pyrethrin shampoo, pyrethroid spray, malathion solution, carbaryl shampoo and carbaryl lotion. Carbaryl lotion and mala...
journal_title:Pediatric dermatology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1525-1470.1988.tb00903.x
更新日期:1988-11-01 00:00:00
abstract::Infants and toddlers in day-care centers have a relatively high frequency of diarrhea and/or oral antibiotic use, and may be at increased risk of developing diaper dermatitis when diapered. A six-month, prospective, double-blind study was conducted in day-care centers in Houston, Texas, to determine the frequency of d...
journal_title:Pediatric dermatology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1525-1470.1988.tb01143.x
更新日期:1988-05-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Drug reaction with eosinophilia and systemic symptoms (DRESS) is rare but potentially fatal in children. Fever and rash, which are salient features of DRESS, may mimic other commonly encountered pediatric conditions. We profiled the DRESS cases in a tertiary children's hospital in Singapore. METH...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13812
更新日期:2019-05-01 00:00:00
abstract::Henoch-Schönlein purpura (HSP) is an acute systemic vasculitis with unknown etiology, although several studies have found HSP to be related to cytokines such as tumor necrosis factor α, interleukin (IL)-1, and adhesion molecules. In the present study we determined the levels of cytokines such as IL-18 and endothelin-1...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12222
更新日期:2013-11-01 00:00:00
abstract::Pustular psoriasis (PP) is rare in children. The small number of reported cases makes deciding on treatment and follow-up challenging. The current study was an evaluation of treatment approaches and courses of PP in 18 children diagnosed and followed over a 20-year period. From 1992 to 2011 we treated 1,447 children w...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12296
更新日期:2014-09-01 00:00:00
abstract::High-frequency ultrasonography represents a promising tool for pediatric dermatologists. It is a noninvasive and harmless diagnostic technique that is especially appealing when working with children. It can be easily performed at the patient's bedside, avoiding diagnostic delays, sedation, or multiple visits. It repre...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.13897
更新日期:2020-01-01 00:00:00
abstract::Discoid lupus erythematosus (DLE) is the most common variant of cutaneous chronic lupus erythematosus (CLE). Sun protection, topical corticosteroids, and antimalarials constitute the first-line options for treatment. In refractory cases, alternative antimalarials, methotrexate, retinoids, and thalidomide have been uti...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14067
更新日期:2020-01-01 00:00:00
abstract::Henoch-Schönlein purpura (HSP) is the most common vasculitis of childhood. It is usually self-limiting and is characterized by an immune complex-mediated vasculitis associated with IgA deposition. We present an unusual case of HSP with mucosal lesions and coronary artery thickening. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01430.x
更新日期:2012-05-01 00:00:00
abstract::This article reviews skin changes occurring in diabetic children. Skin changes may be related to metabolic alterations associated with diabetes. Others may be manifestations of macro or microvascular disease. Insulin injections, required for management of most diabetes in the pediatric age group, may also cause cutane...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.1985.tb01047.x
更新日期:1985-03-01 00:00:00
abstract::Currently wound treatment options of amputation stumps due to purpura fulminans include healing by secondary intention from wound debridement, split-thickness skin grafting, tissue and muscle flaps, plantar skin free transfer, skin expansion, artificial skin, and hyperbaric oxygen therapy. We saw a 6-month-old girl wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2003.20218.x
更新日期:2003-03-01 00:00:00
abstract::We report two cases of focal preauricular dermal dysplasia and review the available literature. Focal preauricular dermal dysplasia is a form of aplasia cutis congenita in which atrophic skin lesions occur in a stereotypical bilateral distribution in the preauricular region. Although focal preauricular dermal dysplasi...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.2008.00679.x
更新日期:2008-05-01 00:00:00
abstract::Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01334.x
更新日期:2010-11-01 00:00:00
abstract::Discoid lupus erythematosus (DLE) is rare in childhood. We report the case of a 5-year-old girl who presented with erythematous scaly plaques, with scarring alopecia, involving approximately 40% of her scalp. Histopathology confirmed the diagnosis of DLE. Treatment with intravenous methylprednisolone, hydroxychloroqui...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.00916.x
更新日期:2009-05-01 00:00:00
abstract::Proteus syndrome is an extremely rare mosaic condition characterized by progressive overgrowth of tissues due to a somatic activating mutation of the AKT1 gene. Distinct cutaneous features, including cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and adipose abnormalities, can alert the de...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12900
更新日期:2016-09-01 00:00:00
abstract::A young boy developed childhood keratosis lichenoides chronica. The eruption cleared spontaneously after 13 years. This is a rare condition, regarded by some as a variant of lichen planus. The great preponderance of cases occur in adults, whereas the disease in childhood is uncommon. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1994.tb00074.x
更新日期:1994-03-01 00:00:00
abstract::Diaper dermatitis, an acute inflammation of the skin in the diaper area, is the most common dermatologic disorder of infancy. This placebo-controlled, randomized, double-blind, parallel-group trial compared the efficacy and safety of miconazole nitrate 0.25% in a zinc oxide/petrolatum base with that of the ointment ba...
journal_title:Pediatric dermatology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1525-1470.2001.018002149.x
更新日期:2001-03-01 00:00:00