Abstract:
:Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A12 (ABCA12) are known to cause harlequin ichthyosis. More recently, mutations in this gene have been demonstrated to cause other phenotypes within the spectrum of recessive congenital ichthyosis. We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Peterson H,Lofgren S,Bremmer S,Krol Adoi
10.1111/j.1525-1470.2011.01695.xsubject
Has Abstractpub_date
2013-11-01 00:00:00pages
e236-7issue
6eissn
0736-8046issn
1525-1470journal_volume
30pub_type
杂志文章abstract::Juvenile xanthogranuloma is the most common non-Langerhans cell histiocytosis of infancy and childhood. It is a benign disorder that usually regresses spontaneously, more often without or with limited skin changes. The clinical features are very pleomorphic and recognition of the atypical presentations should facilita...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.0736-8046.2004.21206.x
更新日期:2004-03-01 00:00:00
abstract::Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1993.tb00034.x
更新日期:1993-06-01 00:00:00
abstract::A 13-year-old Korean girl presented with a 7-year history of a pruritic, light-brown patch containing multiple 0.2- to 0.5-cm brownish-to-reddish maculopapules on the left anterior chest. When her skin was rubbed, the lesion became itchy and red. Histopathologic evaluation demonstrated marked dense dermal infiltration...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13541
更新日期:2018-09-01 00:00:00
abstract::Orf is a zoonotic parapoxvirus typically transmitted to humans by a bite from goats or sheep. We present an unusual case of multiple orf lesions on the fingers of a 13-month-old child who was bitten by a goat and subsequently developed progressive swelling, blistering, and necrotic papulonodules of the hand followed b...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13259
更新日期:2017-11-01 00:00:00
abstract::Due to the presence of two different clones of cells in early embryogenesis, numerous congenital and acquired dermatoses have a linear distribution following the lines of Blaschko. Acquired inflammatory skin diseases are rarely observed in linear patterns. Our patient was born with macrocephaly, left eye glaucoma, and...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2002.00119.x
更新日期:2002-09-01 00:00:00
abstract::For millennia, sunflower seed oil has been used in folk medicine for both skin care and the treatment of skin disorders. In its natural state, the oil contains high levels of essential fatty acids, particularly linoleic acid, which has skin barrier-enhancing properties. A sunflower oleodistillate (SOD), which is produ...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.2009.01042.x
更新日期:2009-11-01 00:00:00
abstract::Treatment of verruca plana is often challenging, and multiple treatment modalities, both pharmacologic and destructive, are frequently necessary to clear lesions. We report a case of a 16-year-old girl with a 2-year history of extensive verruca plana of the forehead, temples, and upper periorbital skin, recalcitrant t...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14384
更新日期:2020-10-08 00:00:00
abstract::Connective tissue nevi of collagen type are now classified in four major subtypes. In addition to the clinicopathological features of papulolinear collagenoma, which is considered as a variant of isolated collagen harmatoma, the case we present has a unique arborizing pattern. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00842.x
更新日期:2009-01-01 00:00:00
abstract::An adolescent boy whose initial presentation consisted of an asymmetric, nonvesicular rash was eventually diagnosed with dermatitis herpetiformis (DH). Certain factors, including lesions limited to the genitals, an initial biopsy revealing nonspecific findings on microscopy studies, and the absence of characteristic d...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12086
更新日期:2014-07-01 00:00:00
abstract::Bullous dermolysis of the newborn is a dominant or recessive inherited subtype of dystrophic epidermolysis bullosa characterized by the tendency to spontaneously stop blistering within the first months of life. Here we report two siblings with bullous dermolysis of the newborn who were born prematurely and have a nove...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.12513
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND:Topical occlusive agents, such as petroleum jelly and silicone oils, kill head lice by coating and blocking its excretory system and are unlikely to induce treatment resistance. Although a popular alternative to neurotoxic pediculicides, their efficacy and safety remain unclear. METHODS:We searched CENTRAL,...
journal_title:Pediatric dermatology
pub_type: 杂志文章,meta分析
doi:10.1111/pde.14016
更新日期:2020-01-01 00:00:00
abstract::We report a 10-month-old boy who presented with a giant perianal condyloma acuminatum, and a similar lesion on the neck. These lesions were treated by surgical excision with satisfactory results. This size, extent, and early age of appearance make this case highly unusual. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.00968.x
更新日期:2009-07-01 00:00:00
abstract::Granular cell tumors are uncommon, usually benign tumors of neural origin. They are most often diagnosed in the third to sixth decades of life and are infrequently seen in the pediatric population. Although they can be found in a wide distribution throughout the body, more than half occur in the oral cavity and other ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00392.x
更新日期:2007-05-01 00:00:00
abstract::We report the case of a 2.5-year-old girl with linear morphea initially diagnosed as an acquired port-wine stain (PWS). She underwent three treatments to the right face using the pulsed dye laser (PDL) before sclerotic changes were observed and the correct diagnosis was confirmed with histopathology. Treatment using t...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12116
更新日期:2014-09-01 00:00:00
abstract::Anogenital (AG) warts in 31 prepubertal children were HPV typed by nonisotopic in situ hybridization (NISH) using digoxigenin-labeled probes for human papilloma virus (HPV) types 1-5, 6, 11, 16, 18, 31, and 33. Mode of transmission was determined from historical, clinical, and laboratory data independent of HPV typing...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1997.tb00976.x
更新日期:1997-09-01 00:00:00
abstract::Although the U.S. pediatric skin care market is a $1.7 billion industry, little is known regarding the usage pattern of skin care products in very young children. We have begun to recognize that common over-the-counter skin care products may have positive or negative effects on skin barrier function. Thus, knowing wha...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12424
更新日期:2014-11-01 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::We report an unusual occurrence of spontaneous pigmentary regression with a desmoplastic reaction in a neonatally eroded giant congenital melanocytic nevus. This process has been documented with photographs and skin biopsy specimens. Neonatal histology demonstrated connective tissue proliferation. Histology at age 5 y...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2006.00311.x
更新日期:2006-11-01 00:00:00
abstract::Graft-versus-host disease (GVHD) is one of the major complications after hematopoietic stem cell transplantation and is responsible for post-therapeutic morbidity, mortality, and poor quality of life of recipients. Sclerodermatous graft-versus-host disease (sGVHD) is a rare variant of chronic GVHD characterized by dep...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12794
更新日期:2016-03-01 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::Little is known about pediatricians' counseling and clinical practices to reduce skin cancer risk among their patients. Thus our objectives were to characterize skin cancer preventive counseling and clinical practices in a sample of pediatricians and identify correlates of these practices. Physicians practicing genera...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2003.03004.x
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Loose anagen syndrome (LAS) is a disorder of abnormal anchorage of the hair to the scalp. Its symptoms include an inability to grow hair long and hair that is easily pulled out. METHODS:We conducted a retrospective chart review of patients with LAS over the last 10 years at the Children's Hospita...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12912
更新日期:2016-09-01 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::Nipple adenoma is an uncommon proliferative process of the breast and predominantly occurs in women aged 40-50. Its incidence is extremely low in men, and it has not been reported in a boy. Although nipple adenoma is rare and benign, being familiar with it is important because it clinically resembles Paget disease and...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13430
更新日期:2018-05-01 00:00:00
abstract::A 4-month-old female infant presented with widespread pyoderma gangrenosum associated with stridor, presumed secondary to tracheal involvement. No underlying cause was revealed despite extensive investigation. Treatment with immunosuppressive agents only partially suppressed disease activity. Complete resolution follo...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00825.x
更新日期:2009-01-01 00:00:00
abstract::Pulmonary manifestations are well recognized during the acute phase of Stevens-Johnson syndrome but persistent pulmonary sequela is rarely reported. We report two boys with bronchiolitis obliterans following the acute phase of Stevens-Johnson syndrome and discuss the clinical picture and treatment of persistent pulmon...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00433.x
更新日期:2007-07-01 00:00:00
abstract::A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. The woman had major underdeve...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1993.tb00015.x
更新日期:1993-03-01 00:00:00
abstract::We report a case of a young man with perforating folliculitis and cystic fibrosis with complications including chronic obstructive pulmonary disease, insulin dependent diabetes mellitus, and liver cirrhosis. We demonstrate increased TGF-β1 immunohistochemical staining in the perforating folliculitis lesions of our pat...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01329.x
更新日期:2010-11-01 00:00:00
abstract::Parry-Romberg syndrome (PRS) is characterized by hemiatrophy of facial structures, including skin, subcutaneous fat, muscle, bone, and cartilage. Complications associated with PRS include headaches, seizures, and chronic facial pain. Protocol for the treatment of chronic facial pain is not clear; reports on the use of...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13746
更新日期:2019-03-01 00:00:00
abstract::We cared for 124 pediatric patients with a histologic diagnosis of Langerhans' cell histiocytosis (histiocytosis X) over a period of 14 years. Clinical, laboratory, and radiographic findings were analyzed. The most frequent manifestations were bone lesions, lymph node involvement, and skin infiltration. Liver disease ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1988.tb01160.x
更新日期:1988-08-01 00:00:00