Abstract:
:Mutations in the p63 gene have been identified in five human disorders characterized by varying degrees of limb anomalies, ectodermal dysplasia, and facial clefts. We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome. These three patients are the first to be reported with this particular mutation, which consists of a change from glycine to aspartic acid at position 506 on exon 14. The clinical spectrum observed in the three family members highlights the wide range of phenotypic variations that result from a single point mutation in the p63 gene. The mother lacks certain features classically associated with AEC, dermatitis of the scalp in particular. Severe erosive dermatitis of the scalp developed in both offspring, along with previously undescribed poikilodermatous skin changes and a deficiency of CD4 T lymphocytes. The new and varied phenotypic features noted in these patients emphasize the spectrum of disease caused by mutations in the p63 gene and raise the possibility of a role for it in maintaining immunocompetence.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Steele JA,Hansen H,Arn P,Kwong PCdoi
10.1111/j.1525-1470.2005.00105.xsubject
Has Abstractpub_date
2005-09-01 00:00:00pages
415-9issue
5eissn
0736-8046issn
1525-1470pii
PDE105journal_volume
22pub_type
杂志文章abstract::The results from three online surveys of dermatologists, allergists and immunologists, and primary care physicians (PCPs) regarding routine bathing frequency recommendations for children with atopic dermatitis (AD) are presented. The results suggest that PCPs approach bathing frequency differently than specialists, wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12618
更新日期:2015-07-01 00:00:00
abstract::Systemic sclerosis-polymyositis overlap syndrome is rare in children. Anti-PM/Scl is the most common autoantibody associated with this syndrome. We present a case of systemic sclerosis-polymyositis overlap syndrome in a child with isolated anti-Ku antibodies, an uncommon antibody associated with this rare syndrome. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14243
更新日期:2020-09-01 00:00:00
abstract::Treatment of children with severe atopic dermatitis (AD) can be especially challenging because several possible intervention treatments have (relative) contraindications in childhood. In recent years, wet-wrap treatment (WWT) has been advocated as a relatively safe and efficacious intervention in children with severe ...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.2011.01691.x
更新日期:2012-01-01 00:00:00
abstract::Metastatic Crohn's disease (MCD) is a rare extraintestinal manifestation of Crohn's disease characterized by the histologic finding of granulomatous dermatitis at a site noncontiguous to the gastrointestinal tract. An adolescent had MCD of the face that was initially mistaken for severe, treatment-resistant acne. Hist...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1996.tb01182.x
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVES:To compare prevalence and severity of diaper dermatitis (DD) in infants and toddlers (babies) across three countries (China, USA, and Germany), including diapered skin measures and caregiver practices. METHODS:A cross-sectional study of 1791 babies (~600 from each country) was recruited at each clinical sit...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14047
更新日期:2020-01-01 00:00:00
abstract::Childhood pemphigus foliaceus typically causes erythema and scaling of the scalp. Sometimes, blisters and oozing are present, which often are misdiagnosed as either impetigo or seborrheic dermatitis. The eruption may progress to involve the trunk and limbs, the lesions often having an arcuate pattern. The diagnosis ca...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1986.tb00651.x
更新日期:1986-12-01 00:00:00
abstract::Mycosis fungoides (MF) is the most common form of cutaneous T-cell lymphoma. It usually occurs in middle-aged and elderly persons, although several reports have described its occurrence in young children. The aim of this study was to review the profile and outcome of childhood MF in Singapore from 1989 to 1998. A tota...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2000.017005352.x
更新日期:2000-09-01 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::Linear immunoglobulin A bullous dermatosis (LABD) is an autoimmune blistering disease that most commonly presents in preschool-aged children. There have been few neonatal reports, all of which had life-threatening aerodigestive complications requiring mechanical intervention and systemic therapy. We present a case of ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01507.x
更新日期:2012-09-01 00:00:00
abstract::Burns and scalds are relatively common injuries in children. Formation of hypertrophic scars or keloids is feared complications. A 2-year-old girl who spilled a cup of hot coffee onto herself developed widespread hypertrophic scars and beginning keloids on her upper chest, despite application of pressure garments and ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14017
更新日期:2020-01-01 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::Diaper dermatitis is the most common contact eczema present in early childhood. The main cause is an irritant reaction to urine and feces, which is facilitated by the occlusive conditions under the diaper, leading to hyperhydration of the stratum corneum (diaper dermatitis). In addition, diaper pressure and friction c...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.13484
更新日期:2018-03-01 00:00:00
abstract::This study sought to identify barriers to treatment in children with chronic inflammatory skin disease, particularly those with atopic dermatitis, psoriasis, and acne vulgaris. Caregivers of 101 patients seen in the Children's Specialty Group Division of Dermatology, Children's Hospital of The King's Daughters, Norfol...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01493.x
更新日期:2011-05-01 00:00:00
abstract::A 2-year-old African American, Hispanic boy presented with well-defined, violaceous, annular dermal plaques without scale over the upper extremities, face, lower extremities, and buttocks. The clinical presentation and laboratory studies were consistent with a diagnosis of subacute cutaneous lupus erythematous (SCLE)....
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.12007
更新日期:2014-05-01 00:00:00
abstract::Infliximab, a chimeric antitumor necrosis factor alpha monoclonal antibody (anti-TNF alpha), has been recently shown to have a beneficial effect on pyoderma gangrenosum associated with inflammatory bowel disease. Patients with the syndromic triad of pyogenic sterile arthritis, pyoderma gangrenosum, and acne, an autoin...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2005.22320.x
更新日期:2005-05-01 00:00:00
abstract::When vulvar lichen sclerosus occurs in prepubertal children it is widely believed that it is likely to remit at puberty. However when it occurs in adult women it is accepted that remission is unlikely and that in addition untreated or inadequately treated disease may be complicated by significant disturbance of vulvar...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.01022.x
更新日期:2009-11-01 00:00:00
abstract::A case of an accessory tragus located on the nasal vestibule is reported. This represents the third case of this entity located outside of a derivative of a branchial arch. All three of these cases were located in the nose/glabella region. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14090
更新日期:2020-03-01 00:00:00
abstract::Four unrelated children with osteoma cutis and Albright hereditary osteodystrophy (pseudohypoparathyroidism and pseudopseudohypoparathyroidism) are described. All four patients were normocalcemic when they were first seen with cutaneous ossification. A diagnosis of Albright hereditary osteodystrophy was established on...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1992.tb00318.x
更新日期:1992-03-01 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::Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nai...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01513.x
更新日期:2012-07-01 00:00:00
abstract::Loose anagen hair syndrome (LAHS) is an uncommonly reported autosomal dominant hair disorder with incomplete penetrance that primarily affects children but is occasionally seen in adults. LAHS is characterized by the ability to easily and painlessly extract unsheathed anagen hairs from the scalp with gentle traction. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12208
更新日期:2013-09-01 00:00:00
abstract::Eccrine angiomatous hamartoma (EAH) is a rare, benign cutaneous lesion histologically defined as a proliferation of eccrine glands within a closely associated vascular stroma. Typically EAH presents as a solitary flesh-colored, hyperhidrotic, painful papule or plaque appearing at birth or during childhood. Only two pr...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1046/j.1525-1470.2001.018002117.x
更新日期:2001-03-01 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
abstract::Diaper dermatitis results from the action of a number of physical and chemical factors on the skin. While its etiology is complex, there is agreement that prolonged contact between wet diapers and the skin leading to excessive hydration of the stratum corneum and reduced barrier function is a primary factor. Recent re...
journal_title:Pediatric dermatology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1525-1470.1989.tb01005.x
更新日期:1989-06-01 00:00:00
abstract::Kwashiorkor is a common affliction of children worldwide. It occurs less often in developed countries, but has been reported under a variety of circumstances, including poverty, neurologic disease, and malabsorption. Because of its rare occurrence in the United States and because the affected child has an edematous ra...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.1999.00023.x
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND:Different skin manifestations of COVID-19 are being reported. Acral lesions on the hands and feet, closely resembling chilblains, have been recognized during the peak incidence of the COVID-19 pandemic. MATERIAL AND METHODS:A retrospective review of 22 children and adolescents with chilblain-like lesions se...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14215
更新日期:2020-05-01 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::Acne fulminans is a severe form of acne vulgaris accompanied by systemic symptoms. A 17-year-old Chinese boy presented with an outbreak of necrotic lesions on his face eight days after the onset of palpable purpura, arthralgia, fever, abdominal pain, and proteinuria. He was successfully treated with oral prednisolone ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14373
更新日期:2020-11-01 00:00:00
abstract::Polyurethane chemicals are produced by the reaction of isocyanates and they may cause allergic contact dermatitis or precipitate asthma attacks. Contact dermatitis to polyurethane toilet seat has not been reported before. Herein we present a case of allergic contact dermatitis to polyurethane toilet seat. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01482.x
更新日期:2011-11-01 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