Abstract:
:Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidism, nystagmus, growth and mental retardation, and microcephaly, who developed a progressive encephalopathy with ataxia and optic atrophy at 2.5 years of age. In addition to a deficient cystine level identified on a hair sample, a disturbance in the composition of other amino acids was present. Although features were reminiscent of osteosclerosis, ichthyosis, brittle hair due to trichothiodystrophy, impaired intelligence, decreased fertility, and short stature (SIBIDS) and could represent a variant of this disorder, findings in our patient may reflect a new trichothiodystrophy symptom complex that carries a poor prognosis for survival beyond childhood.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Hersh JH,Klein LR,Joyce MR,Hordinsky MK,Tsai MY,Paller A,Hyzer R,Zax RHdoi
10.1111/j.1525-1470.1993.tb00034.xsubject
Has Abstractpub_date
1993-06-01 00:00:00pages
117-22issue
2eissn
0736-8046issn
1525-1470journal_volume
10pub_type
杂志文章abstract::Erythema nodosum (EN) in association with kerion celsi is a rare condition in children, with only 11 cases having been reported in the English literature. We describe a new case in a 7-year-old boy in whom the disorder had begun 2 months before. He had many inflamed, boggy, suppurative nodules over the left occipitopa...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.2011.01523.x
更新日期:2012-07-01 00:00:00
abstract::Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. It is most commonly due to a heterozygous point mutation, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12206
更新日期:2013-09-01 00:00:00
abstract::The prevalence of persistent microalbuminuria, retinopathy, and peripheral and autonomic neuropathy was assessed in 18 children and adolescents with type 1 (insulin-dependent) diabetes mellitus (IDDM) who suffered from necrobiosis lipoidica diabeticorum (NLD) and in 40 diabetics without NLD, matched for sex, age, dura...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1995.tb00162.x
更新日期:1995-09-01 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::Intralesional corticosteroid injections are frequently used to treat various musculoskeletal and dermatologic conditions, including keloid scarring. While a number of adverse events may be associated with these injections, hypopigmentation without atrophy is rare. We report a case of a pediatric patient with temporary...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14050
更新日期:2020-01-01 00:00:00
abstract::We report a 5-month-old girl diagnosed with bullous pemphigoid who initially did not respond to systemic corticosteroids and dapsone but rapidly improved after the addition of intravenous immunoglobulin (IVIG) infusions. A literature search revealed anecdotal cases of infantile bullous pemphigoid treated with IVIG, al...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.12635
更新日期:2015-09-01 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::We describe three adolescents with eruptive linear lesions of the back, abdomen, and extremities distributed along the lines of Blaschko. Clinically one of these lesions resembled an epidermal nevus in its morphology and distribution. A biopsy specimen demonstrated the typical histology of lichen planus (LP). There ha...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1046/j.1525-1470.2002.00229.x
更新日期:2002-11-01 00:00:00
abstract::Childhood granulomatous periorificial dermatitis (CGPD) is a condition included in the spectrum of rosacea and perioral dermatitis that affects prepubescent children. It is characterized by papular eruptions located around the mouth, nose, and eyes that histopathologically show a granulomatous pattern. We report a 9-y...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12110
更新日期:2013-09-01 00:00:00
abstract::We report the rare instance of four family members with numerous cutaneous lesions of Leishmania major contracted while on holiday in Algeria. Treatment was successful with oral itraconazole for the children and intralesional sodium stibogluconate for the mother. Cutaneous leishmaniasis should be considered in those w...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2006.00177.x
更新日期:2006-01-01 00:00:00
abstract::Sixty novice Buddhist monks with tinea capitis confirmed according to clinical presentation and mycological laboratory finding were included in this study. Mixed-type clinical presentation was observed in approximately half of all cases, together with scarring alopecia (95%) and superficial fungal skin infection at lo...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13102
更新日期:2017-05-01 00:00:00
abstract::Dermal mucinosis occurred in a 3-month-old and persisted for six years. The features suggest is represents a novel type of childhood mucinosis. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1994.tb00596.x
更新日期:1994-09-01 00:00:00
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
更新日期:2020-03-01 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::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::This is a follow-up report on a boy with phacomatosis pigmentokeratotica. At the age of 10 years he had, in addition to a sebaceous nevus and a speckled lentiginous nevus, multiple lesions of a collagen nevus localized on the chin and in the lumbar area. On the left shoulder, a small telangiectatic spot was present wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00588.x
更新日期:2008-01-01 00:00:00
abstract::Herpes zoster is rare in otherwise healthy children, but it is more common in association with immunosuppression. Maternal varicella infection during pregnancy and varicella occurring in the newborn represent risk factors for childhood herpes zoster. However, some controversies persist about risk factors, diagnosis, a...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.0736-8046.2004.21104.x
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:In recent years propranolol has become the treatment of choice for infantile hemangiomas (IHs). There is broad variation in the approach to propranolol initiation in clinical practice. This retrospective study explored the effectiveness of routine pre-treatment ECG in screening infants being considered for s...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12972
更新日期:2016-11-01 00:00:00
abstract::Generalized chronic cutaneous lupus including lupus panniculitis in childhood is rare and usually occurs in the setting of genetic complement deficiencies. The association with antiphospholipid syndrome is even more rare. We report a 13-year-old girl with extensive lupus panniculitis since the age of 8 months and no e...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.1999.00060.x
更新日期:1999-07-01 00:00:00
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
更新日期:2018-11-01 00:00:00
abstract::A 4-month-old female infant presented with widespread pyoderma gangrenosum associated with stridor, presumed secondary to tracheal involvement. No underlying cause was revealed despite extensive investigation. Treatment with immunosuppressive agents only partially suppressed disease activity. Complete resolution follo...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00825.x
更新日期:2009-01-01 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::Stevens-Johnson syndrome is a potentially fatal condition that manifests mainly on the skin and mucosal surfaces but also affects other vital organs. There are no report of Stevens-Johnson syndrome caused by brucella infection in the literature. In this article, a previously healthy boy, diagnosed as Stevens-Johnson s...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00472.x
更新日期:2007-07-01 00:00:00
abstract::Capillary malformation (CM) can be a "red flag" for several syndromic vascular anomalies. We identified a subset of patients with diffuse CM and fetal pleural effusion and documented the type of CM, the etiology of the pleural effusion, the potential syndromic diagnosis, and outcome. Patients with a history of CM and ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12401
更新日期:2015-01-01 00:00:00
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
更新日期:2020-09-01 00:00:00
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...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01101.x
更新日期:2010-03-01 00:00:00
abstract::Skin diseases are common in children. However, only a very few prospective epidemiologic surveys are available in the literature. The present survey was directed at determining the spectrum and pattern of skin diseases of children in Kuwait. A total of 10,000 consecutive new patients were studied; 96% were children of...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.1999.99002.x
更新日期:1999-01-01 00:00:00
abstract::Follicular mucinosis (FM) is an uncommon reaction pattern in which the accumulation of mucin in the follicular epithelium is the main pathologic finding. FM may be idiopathic (primary follicular mucinosis [PFM]), in association with mycosis fungoides or cutaneous T-cell lymphoma, or in association with other neoplasti...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12061
更新日期:2013-11-01 00:00:00
abstract::Rothmund-Thomson syndrome (RTS) is a genetic disease characterized by developmental abnormalities and poikilodermatous skin changes that appear in infancy. An association with myelodysplastic syndromes is rarely reported in RTS, even though impairment of immune function and recurrent infections are described in the li...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.01971.x
更新日期:2001-09-01 00:00:00
abstract::Lichen sclerosus is a T-lymphocyte mediated chronic cutaneous disorder with predilection for the vulva. In prepubertal girls, lichen sclerosus presents as vulvar discomfort, pruritus, bruising/bleeding, discharge, dysuria, or painful defecation. Diagnosis and treatment of lichen sclerosus is of utmost importance in th...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.00922.x
更新日期:2009-05-01 00:00:00