Menkes's syndrome.

Abstract:

:Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic deterioration, and early death. Recent studies in copper metabolism suggest that Menkes's syndrome may be a storage disease in which copper is irreversibly trapped in some tissues by metallothionein, a heavy-metal-binding protein. This then gives rise to a deficiency elsewhere, particularly in the brain, causing irreversible damage in the fetus. We present a patient with Menkes's syndrome and review the clinical and metabolic aspects of this disease.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Maddox JL Jr,Odom RB,Goette DK

doi

10.1111/j.1525-1470.1984.tb01135.x

subject

Has Abstract

pub_date

1984-04-01 00:00:00

pages

307-11

issue

4

eissn

0736-8046

issn

1525-1470

journal_volume

1

pub_type

杂志文章
  • Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome.

    abstract::Ataxia telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder caused by a mutation in the ATM gene. An impaired immune response due to the gene mutation leads to an increased risk of infection and malignancy. We present a rare case of dermatofibrosarcoma protuberans arising in a patient with AT. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13779

    authors: Duffy R,Liaqat M,Lawrence N,Manders S

    更新日期:2019-05-01 00:00:00

  • Severe dyshidrotic eczema after intravenous immunoglobulin therapy for Kawasaki syndrome.

    abstract::Dyshidrotic eczema is one of the rare cutaneous adverse effects of intravenous immunoglobulin therapy, usually seen in adults. We herein report the first pediatric case of severe dyshidrotic eczema occurring after intravenous immunoglobulin therapy for Kawasaki syndrome. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2011.01717.x

    authors: Shiraishi T,Yamamoto T

    更新日期:2013-05-01 00:00:00

  • S100-protein-containing dendritic cells in fetal and newborn epidermis and thymus.

    abstract::Skin and thymus were obtained from abortuses of varying ages and from neonatal autopsies to determine if S100-protein-containing dendritic cells were present. Using an unlabeled antibody peroxidase-antiperoxidase method, we could not detect these dendritic cells in epidermis prior to live birth, but did detect them at...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1986.tb00518.x

    authors: Penneys NS,Kott-Blumenkranz R,Buck BE,Nadji M,Gould E,Ibe M

    更新日期:1986-06-01 00:00:00

  • Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

    abstract::Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13995

    authors: Poulton C,Gration D,Murray K,Baynam G,Halbert A

    更新日期:2019-11-01 00:00:00

  • Phototherapy for the treatment of vitiligo in Asian children.

    abstract::Vitiligo is a common acquired progressive depigmenting condition that can have devastating psychological effects in dark-skinned patients. We performed a retrospective review of patients younger than 16 years of age with a clinical diagnosis of vitiligo treated using phototherapy at the National Skin Center, Singapore...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12506

    authors: Koh MJ,Mok ZR,Chong WS

    更新日期:2015-03-01 00:00:00

  • Rash as a presenting complaint in a child with COVID-19.

    abstract::Cutaneous manifestations are becoming increasingly well-documented in adults with COVID-19. There is now also a growing body of literature regarding skin involvement in children, with reports of papulovesicular, petechial and widespread macular and papular lesions, and chilblains (pernio). We describe the case of a 13...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.14257

    authors: Klimach A,Evans J,Stevens J,Creasey N

    更新日期:2020-09-01 00:00:00

  • Allergic contact dermatitis to triethanolamine in a child.

    abstract::Triethanolamine is used as an emulsifier in many cosmetics and in topical medications, yet the occurrence of contact dermatitis to cosmetics containing triethanolamine is rare in childhood. Our case highlights how young age should not be a deterrent to investigation and demonstrates the importance of patch testing wit...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12537

    authors: Milanesi N,Berti S,Gola M

    更新日期:2015-05-01 00:00:00

  • Urticating Hashimoto-Pritzker Langerhans cell histiocytosis.

    abstract::Red-brown papules developing during the neonatal period may present a diagnostic dilemma. The Darier sign has been a reliable feature in the diagnosis of mastocytosis. However, the cutaneous infiltrate of Hashimoto-Pritzker Langerhans cell histiocytosis (LCH) may contain a large number of mast cells, leading to confus...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1525-1470.2001.018001041.x

    authors: Butler DF,Ranatunge BD,Rapini RP

    更新日期:2001-01-01 00:00:00

  • Bullous Impetigo Rapid Diagnostic and Therapeutic Quiz: A Model for Assessing Basic Dermatology Knowledge of Primary Care Providers.

    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

    authors: Simkin DJ,Grossberg AL,Cohen BA

    更新日期:2016-11-01 00:00:00

  • Cutaneous involvement of polymorphic post-transplant lymphoproliferative disorder in a child after liver transplantation.

    abstract::Post-transplantation lymphoproliferative disorder (PTLD) is one of the most common de novo malignancies in patients who receive immunosuppressive therapy after solid organ transplantation. We report a case of a 5-year-old girl who presented with indurated violaceous skin nodules 3.5 years post-liver transplantation, d...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13903

    authors: Chen KY,Lin CY,Kuo TT,Shih LY,Chang CH,Chen WT,Yang CY

    更新日期:2019-09-01 00:00:00

  • Cervical occult spinal dysraphism: MRI findings and the value of a vascular birthmark.

    abstract::Spinal dysraphism is easily recognized in the overt form as a meningocele or myelomeningocele. The closed form or occult spinal dysraphism (OSD) can be overlooked. It occurs predominantly at the lumbosacral level, but OSD at the cervical level, although very rare, also occurs. The value of magnetic resonance imaging i...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1995.tb00172.x

    authors: Enjolras O,Boukobza M,Jdid R

    更新日期:1995-09-01 00:00:00

  • Henoch-Schönlein purpura associated with Helicobacter pylori infection in a child.

    abstract::Henoch-Schönlein purpura is an acute leukocytoclastic vasculitis that primarily affects children. Henoch-Schönlein purpura is often associated with an infection, and a wide variety of infectious agents have been implicated in the pathogenesis. We report a child with Henoch-Schönlein purpura associated with Helicobacte...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2008.00786.x

    authors: Mytinger JR,Patterson JW,Thibault ES,Webb J,Saulsbury FT

    更新日期:2008-11-01 00:00:00

  • Racial disparities in fifth-grade sun protection: Evidence from the Healthy Passages study.

    abstract:BACKGROUND/OBJECTIVES:Despite rising skin cancer rates in children, multiple studies reveal inadequate youth sun-protective behavior (eg, sunscreen use). Using Healthy Passages data for fifth-graders, we set out to determine sunscreen adherence in these children and investigated factors related to sunscreen performance...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/pde.13550

    authors: Correnti CM,Klein DJ,Elliott MN,Veledar E,Saraiya M,Chien AT,Schwebel DC,Mrug S,Tortolero SR,Cuccaro PM,Schuster MA,Chen SC

    更新日期:2018-09-01 00:00:00

  • Cerebriform intradermal nevus.

    abstract::Cerebriform intradermal nevus is a rare form of cutis verticis gyrata. Clinically it manifests as a scalp deformity resembling the surface of the brain, with cerebriform morphologic characteristics. Degeneration into malignant melanoma has been reported. Herein, a cerebriform intradermal nevus of the scalp in a 7-year...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2007.00361.x

    authors: Yazici AC,Ikizoglu G,Baz K,Polat A,Ustunsoy D

    更新日期:2007-03-01 00:00:00

  • Rothmund-Thomson syndrome with myelodysplasia.

    abstract::Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 months of age and include poikiloderma, photosensitivity, scaling, hyperkeratosis, and disturban...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1525-1470.2001.018003210.x

    authors: Narayan S,Fleming C,Trainer AH,Craig JA

    更新日期:2001-05-01 00:00:00

  • Hypersensitivity reaction in a child due to lamotrigine.

    abstract::Lamotrigine is an anticonvulsant with a broad spectrum of activity that has been approved in the United States for use in adults with either partial or generalized seizures. This drug is being widely prescribed by pediatricians and neurologists because it is effective in children with idiopathic, resistant, generalize...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1525-1470.1999.99014.x

    authors: Brown TS,Appel JE,Kasteler JS,Callen JP

    更新日期:1999-01-01 00:00:00

  • A Pediatric Case of Sclerodermatous Graft-Versus-Host Disease Responsive to Ultraviolet A1 Phototherapy.

    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

    authors: Lazzeri L,Tripo L,Pescitelli L,Ricceri F,Prignano F

    更新日期:2016-03-01 00:00:00

  • Comparison of disposable diapers with fluff absorbent and fluff plus absorbent polymers: effects on skin hydration, skin pH, and diaper dermatitis.

    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

    authors: Davis JA,Leyden JJ,Grove GL,Raynor WJ

    更新日期:1989-06-01 00:00:00

  • An unusual cluster of circumscribed juvenile pityriasis rubra pilaris cases.

    abstract::Circumscribed juvenile pityriasis rubra pilaris (PRP) is an uncommon dermatosis. We describe the unusual clustering of circumscribed juvenile PRP cases in our pediatric dermatology clinic in 2011. A retrospective chart review was done of patients presenting during the summer of 2011 with classic findings of circumscri...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12260

    authors: Martin KL,Holland KE,Lyon V,Chiu YE

    更新日期:2014-03-01 00:00:00

  • Clinical resolution of a neonatally eroded giant congenital melanocytic nevus.

    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

    authors: Gass JK,Grant JW,Hall PN,Atherton DJ,Burrows NP

    更新日期:2006-11-01 00:00:00

  • Guidelines for the management of tinea capitis in children.

    abstract::Practice guidelines for the treatment of tinea capitis (TC) from the European Society for Pediatric Dermatology are presented. Tinea capitis always requires systemic treatment because topical antifungal agents do not penetrate the hair follicle. Topical treatment is only used as adjuvant therapy to systemic antifungal...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,实务指引

    doi:10.1111/j.1525-1470.2010.01137.x

    authors: Kakourou T,Uksal U,European Society for Pediatric Dermatology.

    更新日期:2010-05-01 00:00:00

  • Congenital hemangioma with milialike structures: a case report.

    abstract::A 4-month-old infant had two 3 cm x 4 cm hemangiomatous lesions on the scalp and back, present since birth, which contained peculiar white-yellowish small nodules. Histologically the lesions proved to have a hemangiomatous (capillary-type) component together with small keratin-containing epidermal cysts (milia-like) w...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1525-1470.1998.1998015307.x

    authors: Rositto A,Avila S,Carames C,Drut R

    更新日期:1998-07-01 00:00:00

  • The "Jewelry Addict": Allergic Contact Dermatitis from Repetitive Multiple Children's Jewelry Exposures.

    abstract::A 9-year-old girl with atopic dermatitis developed persistent plaques on the lips, hands, and fingers that were unresponsive to topical steroids. Her mother reported that she was "addicted" to costume jewelry and developed rashes in reaction to a number of adornments, ranging from rubber bracelets to costume metal jew...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12804

    authors: Silverberg NB

    更新日期:2016-03-01 00:00:00

  • Complementary and alternative therapy for pediatric acne: A review of botanical extracts, dietary interventions, and oral supplements.

    abstract::Many supplements and products containing botanical extracts are marketed to patients for the treatment of acne vulgaris. Additionally, increasing attention has been paid to the role of diet in acne vulgaris. Studies on this topic including pediatric patients are limited, with variable efficacy data. Despite these limi...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/pde.13904

    authors: Gurnee EA,Kamath S,Kruse L

    更新日期:2019-09-01 00:00:00

  • Understanding alopecia areata characteristics in children under the age of 4 years.

    abstract:BACKGROUND/OBJECTIVES:Epidemiologic studies of children with alopecia areata (AA) are sparse, and there are no studies that focus on the youngest children with AA. Evaluation of the clinical presentations of AA in children <4 years of age was performed in order to identify the prognostic factors for disease progression...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13990

    authors: Rangu S,Rogers R,Castelo-Soccio L

    更新日期:2019-11-01 00:00:00

  • Diffuse normolipemic plane xanthoma in a 9-year-old boy.

    abstract::Normolipemic plane xanthoma normally occurs in adults. We report the atypical instance of a 9-year-old boy who developed disseminated, flat, yellow-brown plaques up to 2 to 3 cm without any complaints. The histology showed the hallmarks of xanthoma, including the presence of CD68+ foam cells and Touton giant cells. No...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2005.22207.x

    authors: Hofmann M,Zappel K,Trefzer U,Audring H,Albrecht-Nebe H,Sterry W,Blume-Peytavi U

    更新日期:2005-03-01 00:00:00

  • Angioedema After Squaric Acid Treatment in a 6-Year-Old Girl.

    abstract::Alopecia areata (AA) involves the immune-related destruction of hair follicles, resulting in patches of complete hair loss, most often on the scalp. The topical sensitizer squaric acid dibutylester (SADBE) is a popular treatment option given its low side-effect profile, hair regrowth potential, and lack of cross-react...

    journal_title:Pediatric dermatology

    pub_type:

    doi:10.1111/pde.12993

    authors: Chen CA,Carlberg V,Kroshinsky D

    更新日期:2017-01-01 00:00:00

  • Imatinib mesylate-induced pseudoporphyria in two children.

    abstract::Imatinib mesylate was the first of several tyrosine kinase inhibitors approved for use in the treatment of a number of human cancers. Adverse cutaneous reactions to imatinib are common. Pseudoporphyria has been infrequently reported in adults undergoing imatinib therapy for chronic myeloid leukemia. We present two chi...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12380

    authors: Mahon C,Purvis D,Laughton S,Bradbeer P,Teague L

    更新日期:2014-09-01 00:00:00

  • Agminated spitz nevi: case report and review of the literature.

    abstract::Spitz nevi are benign melanocytic lesions with many histologic similarities to malignant melanoma. A case of agminated Spitz nevi on a 2-year-old boy's left cheek is reported and 41 other cases of agminated Spitz nevi are reviewed. In this case, two biopsies were performed on two different-appearing lesions and the re...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/pde.12026

    authors: Zeng MH,Kong QT,Sang H,Deng DQ,Xie QM

    更新日期:2013-09-01 00:00:00

  • A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.

    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

    authors: González-del Angel A,Estandia-Ortega B,Gaviño-Vergara A,Sáez-de-Ocariz M,Velasco-Hernández Mde L,Salas-Labadía C

    更新日期:2014-09-01 00:00:00