Bloom syndrome in two siblings.

Abstract:

:Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Sultan SJ,Sultan ST

doi

10.1111/j.1525-1470.2010.01101.x

subject

Has Abstract

pub_date

2010-03-01 00:00:00

pages

174-7

issue

2

eissn

0736-8046

issn

1525-1470

pii

PDE1101

journal_volume

27

pub_type

杂志文章
  • Pediculosis capitis: why prefer a solution to shampoo or spray?

    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

    authors: Armoni M,Bibi H,Schlesinger M,Pollak S,Metzker A

    更新日期:1988-11-01 00:00:00

  • Pigment Loss in Patients with Large Congenital Melanocytic Nevi: Various Clinical Presentations Documented in a Large Series.

    abstract:BACKGROUND/OBJECTIVES:The association between vitiligo and congenital melanocytic nevi remains incompletely understood. The objective of this study was to investigate the frequency of depigmentation, including vitiligo, in patients with a large congenital melanocytic nevus (LCMN), which is a rare melanocytic tumor vari...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12823

    authors: Polat Ekinci A,Kiliç S,Baykal C

    更新日期:2016-05-01 00:00:00

  • A survey to assess use patterns and perceptions of efficacy of eczema action plans among pediatric dermatologists.

    abstract::Eczema action plans (EAPs) are written, customizable documents that guide patients through the self-management of atopic dermatitis. Here, we distributed a survey regarding the use patterns and perceptions of eczema action plans to 1068 members of the Society for Pediatric Dermatology and received 87 responses. Althou...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13667

    authors: Stringer T,Yin HS,Oza VS

    更新日期:2018-11-01 00:00:00

  • Understanding sunscreen and photoprotection misinformation on parenting blogs: A mixed-method study.

    abstract:BACKGROUND/OBJECTIVES:Sun exposure during childhood is a modifiable risk factor for skin cancer. Social media (including parenting blogs) represent promising platforms for understanding misinformation about pediatric photoprotection. This study's objective was to qualitatively and quantitatively evaluate the digital so...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.14411

    authors: Tamminga MA,Lipoff JB

    更新日期:2020-10-16 00:00:00

  • Congenital self-healing reticulohistiocytosis: report of a patient with a strikingly large tumor mass.

    abstract::A newborn male Thai infant had numerous brownish red nodules of various sizes scattered over both palms and soles, left thigh, abdomen, chin, and left upper eyelid. An extremely large tumor mass was present on the right sole. Many lesions showed spontaneous ulceration. No extracutaneous involvement was found. All lesi...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1989.tb00263.x

    authors: Timpatanapong P,Rochanawutanon M,Siripoonya P,Nitidandhaprabhas P

    更新日期:1989-03-01 00:00:00

  • Bathing Frequency Recommendations for Children with Atopic Dermatitis: Results of Three Observational Pilot Surveys.

    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

    authors: Cardona ID,Kempe E,Hatzenbeuhler JR,Antaya RJ,Cohen B,Jain N

    更新日期:2015-07-01 00:00:00

  • A case series of demodicosis in children.

    abstract::Demodex mites are commensal inhabitants of the pilosebaceous unit that are typically absent or at low numbers in childhood. When they are present, they can cause a primary eruption or exacerbate an underlying facial dermatosis. Here we report five cases of demodicosis occurring in childhood, the clinical presentations...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13852

    authors: Douglas A,Zaenglein AL

    更新日期:2019-09-01 00:00:00

  • Congenital leukemia cutis.

    abstract::We describe a premature neonate who was born with pancytopenia and a single subcutaneous nodule on her right lower extremity. A biopsy specimen from the nodule demonstrated a dense infiltrate of pleomorphic mononuclear cells that extended throughout the dermis and into the subcutaneous tissue. Immunohistochemical stai...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2007.00578.x

    authors: Fender AB,Gust A,Wang N,Scott GA,Mercurio MG

    更新日期:2008-01-01 00:00:00

  • Fatal nodular xanthomatosis in an infant.

    abstract::We describe a unique and puzzling case of a 7-month-old baby with a non-X hypertriglyceridemic histiocytoxanthomatosis. The disease was characterized by a massive nodular eruption that was clinically, histologically, and ultrastructurally consistent with juvenile xanthogranuloma, but it had a rapid, fatal evolution. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1987.tb00787.x

    authors: Caputo R,Ermacora E,Gelmetti C,Gianni E

    更新日期:1987-11-01 00:00:00

  • Tissue-engineered skin in the healing of wound stumps from limb amputations secondary to purpura fulminans.

    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

    authors: Greenberg JE,Falabella AF,Bello YM,Schachner LA

    更新日期:2003-03-01 00:00:00

  • Verruciform xanthoma in a patient with recessive dystrophic epidermolysis bullosa: Case report and literature review.

    abstract::Verruciform xanthoma (VX) is a rare finding thought to be caused by epidermal damage from trauma or inflammation and has been reported in a limited number of patients with recessive dystrophic epidermolysis bullosa (RDEB). Herein, we describe a 20-year-old woman with RDEB who developed a large, verrucous, pink plaque ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.14079

    authors: Stephens M,Rubin AI,Perman MJ

    更新日期:2020-03-01 00:00:00

  • Goodbye warts, hello vitiligo: Candida antigen-induced depigmentation.

    abstract::Depigmentation after the use of topical immune modulators is a rare but reported event. Herein we present what is to our knowledge the first case of vitiligo at a site of Candida antigen injection. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12049

    authors: Wilmer EN,Burkhart CN,Morrell DS

    更新日期:2013-11-01 00:00:00

  • A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.

    abstract:BACKGROUND:Kindler syndrome is a rare genodermatosis. Major clinical criteria include acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. METHODS:FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome. RES...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.14076

    authors: Valinotto LE,Natale MI,Lusso SB,Cella E,Gutiérrez O,Sebastiani F,Manzur GB

    更新日期:2020-03-01 00:00:00

  • Aleukemic congenital leukemia cutis.

    abstract::A newborn girl had typical "blueberry muffin" skin lesions, which showed histopathologic features of myelomonocytic leukemia cutis. We could not demonstrate leukemic infiltration of bone marrow in four aspirates. Her course was complicated with primary pulmonary hypertension, which led to death at 7 months of age. We ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.0736-8046.2004.21408.x

    authors: Torrelo A,Madero L,Mediero IG,Baño A,Zambrano A

    更新日期:2004-07-01 00:00:00

  • 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

  • Pediatric teledermatology--a survey of current use.

    abstract::Demand for pediatric dermatologic care far exceeds the supply of pediatric dermatologists. Teledermatology has been proposed as a solution to improve access to care, however, data regarding teledermatology use for pediatric patients are lacking. Surveys assessing use and experience with teledermatology were administer...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2008.00624.x

    authors: Fieleke DR,Edison K,Dyer JA

    更新日期:2008-03-01 00:00:00

  • Sequestrated meningocele of the scalp: diagnostic value of hair anomalies.

    abstract::Clinical aspects of sequestrated meningocele can be varied, causing difficulties in histopathological diagnosis. The meningeal tissue is scanty and appears as nonspecific connective tissue, therefore it may be overlooked. One classical and two unusual clinical presentations of sequestrated meningocele are described: o...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1994.tb00095.x

    authors: Khallouf R,Fétissof F,Machet MC,Stephanov E,Lechrist J,Lorette G

    更新日期:1994-12-01 00:00:00

  • Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.

    abstract::An increased number of melanocytic nevi and lentigines have been reported in patients with two types of autosomal recessive congenital ichthyosis (ARCI): lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. These melanocytic lesions may have clinical and dermoscopic features of atypia, necessitati...

    journal_title:Pediatric dermatology

    pub_type:

    doi:10.1111/pde.14066

    authors: McKenzie S,Arzeno J,Lonowski S,Cheng CE,Hogeling M

    更新日期:2020-01-01 00:00:00

  • Potential barriers to adherence in pediatric dermatology.

    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

    authors: Ellis RM,Koch LH,McGuire E,Williams JV

    更新日期:2011-05-01 00:00:00

  • Lichen planus in a child requiring circumcision.

    abstract::Lichen planus is a rare disorder in infants and children where it usually has the classical cutaneous pattern and only exceptionally involves the mucosa and skin appendages. A 9-year-old boy was referred to our department with a 4-month history of erythematous keratotic papules on the trunk and the upper and lower lim...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1997.tb00220.x

    authors: Aste N,Pau M,Ferreli C,Biggio P

    更新日期:1997-03-01 00:00:00

  • Palmar hyperlinearity in early childhood atopic dermatitis is associated with filaggrin mutation and sensitization to egg.

    abstract:BACKGROUND/OBJECTIVES:Palmar hyperlinearity is a typical clinical feature of Filaggrin gene (FLG) null mutations. There are reports of FLG mutations and allergic sensitization; however, reports on the relationship between palmar hyperlinearity to sensitization are limited. This study aimed to examine the association be...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13752

    authors: Fukuie T,Yasuoka R,Fujiyama T,Sakabe JI,Taguchi T,Tokura Y

    更新日期:2019-03-01 00:00:00

  • Palmoplantar eccrine hidradenitis: three new cases and review.

    abstract::Palmoplantar eccrine hidradenitis (PEH) is characterized by painful erythematous papules and nodules of abrupt onset on the soles of young individuals. The histologic hallmark is a predominant neutrophilic infiltrate surrounding the eccrine gland apparatus. A total of 28 cases have been published since 1988, with a br...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1525-1470.1998.1998015097.x

    authors: Landau M,Metzker A,Gat A,Ben-Amitai D,Brenner S

    更新日期:1998-03-01 00:00:00

  • Trichothiodystrophy associated with urologic malformation and primary hypercalciuria.

    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

    authors: Malvehy J,Ferrando J,Soler J,Tuneu A,Ballesta F,Estrach T

    更新日期:1997-11-01 00:00:00

  • Lymphangioma circumscriptum treated with pulsed dye laser.

    abstract::Lymphangioma circumscriptum is a lymphatic malformation that involves the skin and may extend to subcutaneous tissue and muscle. Treatment of these lesions is challenging. Surgical excision may be performed but recurrence is common. Herein we report a child with a symptomatic lymphangioma circumscriptum that was treat...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1525-1470.2001.1862001.x

    authors: Lai CH,Hanson SG,Mallory SB

    更新日期:2001-11-01 00:00:00

  • Acute febrile neutrophilic dermatosis (Sweet's syndrome): case report and review of the literature.

    abstract::An 8-month-old male infant had fever, polymorphonuclear leukocytosis, and tender, firm, elevated erythematous plaques on his face, trunk, and extremities. Histologic examination revealed a dense, perivascular, polymorphonuclear, inflammatory cell infiltrate with nuclear dust in the dermis and intrafollicular abscesses...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1525-1470.1985.tb00484.x

    authors: Kibbi AG,Zaynoun ST,Kurban AK,Najjar SS

    更新日期:1985-11-01 00:00:00

  • Severe Extravasation Injuries in Neonates: A Report of 34 Cases.

    abstract:INTRODUCTION:Extravasation injuries are a common and challenging problem in hospitalized newborns. Accidental infusion leakage into the surrounding tissues in immature infants may frequently result in skin necrosis, with significant risk of functional and cosmetic impairment. MATERIAL AND METHODS:In the present study ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12664

    authors: Kostogloudis N,Demiri E,Tsimponis A,Dionyssiou D,Ioannidis S,Chatziioannidis I,Nikolaidis N

    更新日期:2015-11-01 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

  • Trimethoprim-sulfamethoxazole-induced drug reaction with eosinophilia and systemic symptoms in a child with congenital renal disease.

    abstract::We present a special case of an 8-year-old girl diagnosed with severe drug reaction with eosinophilia and systemic symptoms due to trimethoprim-sulfamethoxazole for urinary tract infection prophylaxis for congenital vesicoureteral reflux. The patient is believed to have developed drug reaction with eosinophilia and sy...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13607

    authors: Maarouf M,Wickenheiser M,Krase JM,Wolter S,Shi VY

    更新日期:2018-11-01 00:00:00

  • Ischemic ulcers of the toes secondary to Raynaud's phenomenon in a child successfully treated with botulinum toxin.

    abstract::Raynaud's phenomenon (RP) is an episodic vasospastic response to cold or emotional stress causing color changes and pain. These attacks can lead to digital ischemia, ulcers, and gangrene. Severe and refractory RP in children is a therapeutic challenge for clinicians because there are no standardized treatment protocol...

    journal_title:Pediatric dermatology

    pub_type:

    doi:10.1111/pde.14160

    authors: Quintana Castanedo L,Feito Rodríguez M,Maseda Pedrero R,Chiloeches Fernández C,de Lucas Laguna R

    更新日期:2020-07-01 00:00:00

  • Follicular Mucinosis in a Male Adolescent with a History of Acute Myelogenous Leukemia and Graft-versus-Host Disease.

    abstract::Although many cases of follicular mucinosis are idiopathic, numerous others are associated with mycosis fungoides or, rarely, other neoplastic or inflammatory disorders. There are only three reported cases, all in adults, of follicular mucinosis arising in association with acute myelogenous leukemia, two of which invo...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12724

    authors: Jefferson J,Taube J,Grossberg A

    更新日期:2016-01-01 00:00:00