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. RESULTS:We report a novel pathogenic variant detected in four unrelated families of Paraguayan origin, where one nucleotide deletion in FERMT1 gene (c.450delG) is predicted to cause a frameshift mutation leading to loss of function. Haplotype analysis revealed the propagation of an ancestral allele through this population. CONCLUSIONS:The identification of this recurrent pathogenic variant enables optimization of molecular detection strategies in our patients, reducing the cost of diagnosis.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Valinotto LE,Natale MI,Lusso SB,Cella E,Gutiérrez O,Sebastiani F,Manzur GBdoi
10.1111/pde.14076subject
Has Abstractpub_date
2020-03-01 00:00:00pages
337-341issue
2eissn
0736-8046issn
1525-1470journal_volume
37pub_type
杂志文章abstract::The human papillomavirus (HPV) infects the squamous epithelium of the skin and produces common warts, plantar warts, and flat warts, which occur commonly on the hands, face, and feet. The objective of this study was to determine the presence of HPV in warts in children in order to associate the virus with the disease....
journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
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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
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journal_title:Pediatric dermatology
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abstract::This report describes the clinical, radiologic, and autopsy findings of a newborn with PHACE syndrome (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, and eye anomalies) and fetal alcohol spectrum disorder. To our knowledge, the concurrence of these conditions has not been reported in t...
journal_title:Pediatric dermatology
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doi:10.1111/pde.12837
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abstract::Harlequin ichthyosis (HI) is a rare autosomal recessive disorder of cornification in which children are born with an extremely thick stratum corneum that becomes a restrictive circumferential encasement around the orifices, limbs, chest, and abdomen, resulting in limb contractures. We present a neonate diagnosed in ut...
journal_title:Pediatric dermatology
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abstract::Pemphigus refers to a group of potentially fatal blistering skin diseases that are often due to the deleterious effects of autoantibodies directed against desmosomal antigens. Although desmogleins have been mainly implicated as autoantigens in pemphigus, a steadily growing body of evidence suggests that other desmosom...
journal_title:Pediatric dermatology
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abstract::The present study aimed to investigate the prevalence of atopic dermatitis in primary schoolchildren in Denizli, Turkey, and to determine the possible risk factors for atopic dermatitis in home environment. A self-administered questionnaire was handled to the parents of 2,100 children aged 7 to 15 years, from three ra...
journal_title:Pediatric dermatology
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doi:10.1111/j.1525-1470.2008.00697.x
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abstract::A case of childhood granulomatous periorificial dermatitis is described. This disorder occurs predominantly in prepubertal black children and is characterized by a monomorphous, papular eruption occurring around the mouth, nose, and eyes. It is benign and self-limited. Treatment may include topical metronidazole in yo...
journal_title:Pediatric dermatology
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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
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更新日期:1989-03-01 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
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更新日期:1997-09-01 00:00:00
abstract::Hidradenitis suppurativa is a chronic relapsing disorder of follicular occlusion that is often recalcitrant to therapy. Topical and systemic antibiotics, hormonal therapies, oral retinoids, immunosuppressant agents, and surgical treatment are some of the therapeutic alternatives used for this often recalcitrant and fr...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.2007.00544.x
更新日期:2007-09-01 00:00:00
abstract::Over the past two decades there have been significant efforts in the United States to heighten awareness about skin cancer. Our goal was to assess parental knowledge, practice, and source of information about sun protection for their children. A questionnaire was administered to 158 parents of children at a dermatolog...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.1861996.x
更新日期:2001-11-01 00:00:00
abstract::Bullous mastocytosis (diffuse cutaneous mastocytosis) is a rare form of mast cell disease that begins during the first month of life and causes extensive blisters that mimic scalded skin syndrome or bullous erythema multiforme. Discrete pigmented macules, papules, and nodules are absent and the characteristic leathery...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1984.tb01131.x
更新日期:1984-04-01 00:00:00
abstract::We describe a bullous-hemorrhagic reaction of the ear lobes in a child with nephrosis after levamisole intake. This drug is used in children as an alternative treatment of corticosteroid-responsive nephrotic syndrome. Histologic evaluation of a lesion revealed necrotizing vasculitis involving mainly the large vessels ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1997.tb00695.x
更新日期:1997-11-01 00:00:00
abstract::Cutaneous myxomas are rare, benign, connective tissue tumors composed of stellate cells set in a loose mucoid stroma containing delicate reticulin fibers running in various directions. They are also called angiomyxomas to reinforce their vascular component. These lesions have been recognized as part of Carney complex....
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01291.x
更新日期:2011-07-01 00:00:00
abstract::We report a 12-year-old Japanese boy with a 3-year history of skin lesions that had been unsuccessfully treated with topical steroids. We initiated two different topical treatments with adapalene gel 0.1% (Differin(®) Gel 0.1%) and high-concentration vitamin D3 (tacalcitol) ointment; the lesions treated with adapalene...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.01077.x
更新日期:2011-03-01 00:00:00
abstract::The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports inc...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
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更新日期:1998-05-01 00:00:00
abstract::Amniotic band syndrome is one of the many causes of aplasia cutis congenita. It is usually seen as a constriction band surrounding a limb or as a membrane that adheres to some part of the body. This syndrome can be associated with various malformations. An infant with amniotic adhesions producing aplasia cutis, radial...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.1999.00062.x
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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
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更新日期:2014-09-01 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
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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
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更新日期:2019-03-01 00:00:00
abstract::Phacomatosis pigmentovascularis is characterized by coexistent extensive cutaneous vascular (capillary) and pigmentary anomalies. We describe a 2-month-old infant presenting with classic features of phacomatosis pigmentovascularis 2b (phacomatosis cesioflammea). He was also found to have hitherto unreported associatio...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13427
更新日期:2018-05-01 00:00:00
abstract::We report a case of lichenoid sarcoidosis in a 3-year-old girl. She had numerous discrete skin-colored or erythematous, infiltrated follicular papules on the buttocks and extremities since 2 months of age. Histopathologic examination showed follicular plugging and an upper dermal granulomatous infiltrate of epithelioi...
journal_title:Pediatric dermatology
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doi:10.1046/j.1525-1470.2001.01958.x
更新日期:2001-09-01 00:00:00
abstract::We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Loss of function of these transcription factors leads to...
journal_title:Pediatric dermatology
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doi:10.1111/pde.13078
更新日期:2017-03-01 00:00:00
abstract::Acrodynia, also known as pink disease, erythredema polyneuropathy, Feer syndrome, and raw-beef hands and feet, is thought to be a toxic reaction to elemental mercury and less commonly to organic and inorganic forms. Occurring commonly in the early 20th century, acrodynia is now a seemingly extinct disease in the moder...
journal_title:Pediatric dermatology
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更新日期:2012-03-01 00:00:00
abstract::Superficial granulomatous pyoderma is a rare entity thought to be a variant of pyoderma gangrenosum and is often mistaken for classic pyoderma gangrenosum. Superficial granulomatous pyoderma has mainly been described in adults. We describe a case of Superficial granulomatous pyoderma in an 11-year-old girl and present...
journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2006.00281.x
更新日期:2006-09-01 00:00:00
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
更新日期:1987-11-01 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