Abstract:
:Two brothers demonstrated a severe variant of trichothiodystrophy. Both had brittle hair, developmental delay with severe failure to thrive, recurrent infections, cataracts, and angioendotheliomas of the liver at autopsy. The elder died at 12 weeks, the younger at 6 months. The younger had the typical appearance of banded hair on polarizing microscopy and a low cystine content measured by ion exchange chromatography. The history, clinical findings, and basic defects of trichothiodystrophy are discussed.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Petrin JH,Meckler KA,Sybert VPdoi
10.1046/j.1525-1470.1998.1998015031.xsubject
Has Abstractpub_date
1998-01-01 00:00:00pages
31-4issue
1eissn
0736-8046issn
1525-1470journal_volume
15pub_type
杂志文章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::Henna is a shrub cultivated in India, Sri Lanka, and North Africa; it is used, mixed with other substances, as a hair and body dye. Several cases are reported in the literature of sensitization to para-phenylenediamine (PPD) contained in the henna tincture, but few of these are pediatric cases. We report two instances...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2002.00219.x
更新日期:2002-11-01 00:00:00
abstract::Accessory tragus is a fairly common congenital malformation of the external ear. In the vast majority of cases it is an isolated developmental defect not associated with other abnormalities. However, the remote possibility exists that it could be associated with other abnormalities of the first and second branchial ar...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1046/j.1525-1470.2000.017005391.x
更新日期:2000-09-01 00:00:00
abstract::Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi-system pathological processes occur. Here, we report the case of a 6-year-old girl who presented with atypical lentiginosis and hyperpigmentation caused by a de novo genetic variant in t...
journal_title:Pediatric dermatology
pub_type:
doi:10.1111/pde.13952
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Bullous impetigo (BI) is a common dermatologic condition, particularly in children, yet confusion regarding its diagnosis and treatment persists. This study measured pediatricians' ability to diagnose and appropriately treat BI and explored factors that might influence pediatricians' accuracy in m...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12974
更新日期:2016-11-01 00:00:00
abstract::Dyskeratosis congenita (DC) is an unusual inherited disease characterized by the triad of mucosal leukoplakia, nail dystrophy, and skin pigmentation. Hyperkeratosis of the palms and soles is another reported skin finding. This hyperkeratosis can lead to fissures, chronic erosion, and deep ulcerations. These atypical w...
journal_title:Pediatric dermatology
pub_type:
doi:10.1111/pde.14316
更新日期:2020-11-01 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
abstract::Two native Yanomami children from the Venezuelan Amazonia with erythroderma were hospitalized on our service. Clinical, histologic, and immunofluorescence studies diagnosed endemic pemphigus foliaceous. Human leukocyte antigen class II showed DRB1*04 subtype *0411, which has not been previously associated with this di...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2006.00197.x
更新日期:2006-03-01 00:00:00
abstract::The October 2018 report from the United Nations Intergovernmental Panel on Climate Change predicts significant threats to human health secondary to anthropogenic global warming; children have been and will continue to be disproportionately affected by these weather-related changes. Multiple physician groups have ackno...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.13819
更新日期:2019-07-01 00:00:00
abstract::We report a 2-year-old boy with a plaque on the upper arm composed of multiple 2- to 3-mm leiomyomata which developed at the age of 3 months and have been unchanged since. Immunohistologically there was positive staining for the muscle intermediate filament desmin. We discuss the unusual clinical presentation and poss...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1997.tb00959.x
更新日期:1997-07-01 00:00:00
abstract::From January 2010 to December 2012, 296 skin biopsies were performed in pediatric patients using only local anesthesia (cream and infiltration). The biopsies were divided into three groups: biopsies of skin neoplasms, biopsies of skin rashes and biopsies of follicular-centered lesions. Our data demonstrate the possibi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12414
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Children with congenital melanocytic nevi (CMN) were historically managed with surgical removal to lower the risk of malignant transformation. The evolving literature over the last decade has indicated a significantly lower risk than previously estimated. Indications for excision currently revolve around aes...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13987
更新日期:2019-11-01 00:00:00
abstract::In the current financial climate where resources in the National Health Service are becoming increasingly limited, it is essential that the role of the pediatric dermatology nurse specialist remains appreciated and supported. Our pediatric dermatology nurse specialist was first employed in September 2002 having had 6 ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.00886.x
更新日期:2009-03-01 00:00:00
abstract::Lindane (gamma benzene hexachloride) is a widely prescribed topical scabicide because of its efficacy and cost-effectiveness. Although toxicity from a single proper application of lindane is generally not observed, the hazards of repeated applications, industrial exposure, and accidental ingestion have been well docum...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.0736-8046.2004.21515.x
更新日期:2004-09-01 00:00:00
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 wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01695.x
更新日期:2013-11-01 00:00:00
abstract::Corticosteroids and photochemotherapy, using a combination of psoralen and ultraviolet A (PUVA) exposure, are the most widely prescribed therapies for vitiligo. These treatments are not uniformly effective and many patients have inadequate responses. Calcipotriene has been shown to be effective in adults and children ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.0736-8046.2004.21418.x
更新日期:2004-07-01 00:00:00
abstract:BACKGROUND:Fibroblastic connective tissue nevi (FCTN) are benign skin conditions characterized by bland spindle cells infiltrating the reticular dermis and the upper subcutis with preservation of adnexal structures. A subset of FCTN expresses CD34, which may cause difficulties in the differential diagnosis, in particul...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13571
更新日期:2018-09-01 00:00:00
abstract::Preschool sarcoidosis is characterized by the triad of skin, joint, and eye disease without pulmonary involvement. Arthritis and uveitis are also frequently seen together in juvenile rheumatoid arthritis. We report two patients with preschool sarcoidosis, both of whom were initially diagnosed and treated as having juv...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.1990.tb00285.x
更新日期:1990-09-01 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::Lymphangiomas are hamartomas which often occur during childhood. Their classification is primarily size dependent and predicts their clinical course. Larger lesions can be life threatening, but for many patients with lymphangiomas, cosmetic disfigurement is the primary concern. Treatment options are limited and have s...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1997.tb00986.x
更新日期:1997-09-01 00:00:00
abstract::Allergic contact dermatitis reaction to topical "black henna" tattoo is usually described secondary to the organic dye para-phenylenediamine, a derivative of analine. Allergic contact dermatitis reactions to para-phenylenediamine are well recognized and most commonly involve an eczematous reaction that may become gene...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00634.x
更新日期:2008-03-01 00:00:00
abstract::Tuberculosis (TB) of the ribs is extremely rare and its diagnosis is often delayed due to the late appearance of radiologic signs. Although antituberculous drugs are the mainstay of treatment, surgery has a definite therapeutic role in recalcitrant or recurrent cases. A 5-year-old boy with scrofuloderma of the chest w...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2003.20406.x
更新日期:2003-07-01 00:00:00
abstract::Pemphigus herpetiformis (PH) is a rare autoimmune bullous condition usually seen in adults and likely underrecognized in children. We describe a 2-year-old girl who presented with a chronic, generalized, blistering rash consistent with pediatric PH based on histology and immunohistochemistry and review the literature....
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.13152
更新日期:2017-05-01 00:00:00
abstract::Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal nevus on the body. Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p.G12S) mutation. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13783
更新日期:2019-05-01 00:00:00
abstract::Graft-versus-host disease (GVHD) is an underappreciated complication of autologous hematopoietic stem cell transplantation (AHSCT) that can affect the skin, gastrointestinal tract, and liver. The development of this rare condition is probably due to an impairment of immunologic tolerance that can occur spontaneously t...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.12407
更新日期:2015-03-01 00:00:00
abstract::Hair casts were seen in 22 girls ranging in age from 4 to 13 years. They were localized to the frontal, vertex, and temporal areas. The number of affected hairs varied from one-tenth to one-third. Twenty of the 22 girls styled their hair in ponytails or pigtails. Compound root sheath casts were present in six of nine ...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.1990.tb01023.x
更新日期:1990-12-01 00:00:00
abstract::We describe three teenage siblings with confluent and reticulated papillomatosis, all presenting during a 6-month period. Two of the three patients had confirmed tinea versicolor, with positive potassium hydroxide scrapings, in association with this entity. This is the largest series of siblings with confluent and ret...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2005.22410.x
更新日期:2005-07-01 00:00:00
abstract::Benzoate allergy may be an overlooked allergen in children and one that may be of increasing importance with its increasing role as a preservative in pediatric personal hygiene formulations. The cases herein report an association with cola and benzoate allergy and discusses the implications of replacement of formaldeh...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12759
更新日期:2016-03-01 00:00:00
abstract::Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus com...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.13273
更新日期:2018-01-01 00:00:00
abstract::Halo dermatitis is a pruritic, eczematous eruption on pigmented nevi and halo nevi in young adults. It may be mistaken for nummular eczema, psoriasis, or fungal skin infection. Awareness of halo dermatitis will possibly reveal more cases in children, which have been reported only rarely. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1992.tb00347.x
更新日期:1992-09-01 00:00:00