Abstract:
:Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder. We used whole-exome sequencing to identify the molecular basis of APSS in a consanguineous Jordanian-American pedigree. We identified a homozygous nonsense mutation (p.Lys22X) in the CSTA gene, encoding cystatin A, that was confirmed using Sanger sequencing. Cystatin A is a protease inhibitor found in the cornified cell envelope, and loss-of-function mutations have previously been reported in two cases of exfoliative ichthyosis. Our study expands the molecular pathology of APSS and demonstrates the value of next-generation sequencing in the genetic characterization of inherited skin diseases.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Krunic AL,Stone KL,Simpson MA,McGrath JAdoi
10.1111/pde.12092subject
Has Abstractpub_date
2013-09-01 00:00:00pages
e87-8issue
5eissn
0736-8046issn
1525-1470journal_volume
30pub_type
杂志文章abstract::Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal nevus on the body. Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p.G12S) mutation. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13783
更新日期:2019-05-01 00:00:00
abstract::Henoch-Schönlein purpura (HSP) is an acute systemic vasculitis with unknown etiology, although several studies have found HSP to be related to cytokines such as tumor necrosis factor α, interleukin (IL)-1, and adhesion molecules. In the present study we determined the levels of cytokines such as IL-18 and endothelin-1...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12222
更新日期:2013-11-01 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::Bullous pemphigoid (BP) is the most common autoimmune blistering disease affecting the elderly but is quite rare in childhood. The majority of pediatric cases have been reported during early childhood. Adolescence is divided into three phases: early (10-13 years), middle (14-17), and late (18-21). This review aimed to...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.13717
更新日期:2019-03-01 00:00:00
abstract::Eruptive vellus hair cysts are benign lesions that can be difficult to distinguish from other skin conditions, including molluscum contagiosum and acne vulgaris. Diagnosis can be corroborated with histopathology. We emphasize differing dermoscopy features to help distinguish eruptive vellus hair cysts from molluscum c...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2012.01771.x
更新日期:2012-11-01 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::A new type of organoid epidermal nevus, characterized by the presence of multiple trichilemmal cysts disposed in a linear arrangement, was recently recognized and named nevus trichilemmocysticus. We report a 10-year-old girl with a congenital linear dermatosis affecting the head, neck, trunk, limbs, palms, and soles. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01246.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::One hundred and twenty-one children with plantar warts were treated with a topical preparation containing salicylic acid, 30%; podophyllin, 5%; and cantharidin, 1%. One hundred patients or their families were reached 6 months to 1 year later. This treatment was effective in 81 cases. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1984.tb00446.x
更新日期:1984-07-01 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::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:BACKGROUND/OBJECTIVES:Sun protection starting in childhood is an important means of skin cancer prevention. Factors associated with sunscreen use have been previously described. However, less is known about factors associated with children's utilization of non-sunscreen sun protection strategies. We sought to examine p...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14250
更新日期:2020-09-01 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::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::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
更新日期:1989-03-01 00:00:00
abstract::Juvenile xanthogranuloma is a benign, self-healing disorder with characteristic lesions mainly involving the skin. Although most patients with juvenile xanthogranuloma have only cutaneous symptoms, recent articles have documented extracutaneous manifestations: systemic involvement of many organs has been reported and ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00721.x
更新日期:2008-07-01 00:00:00
abstract::Discoid lupus erythematosus (DLE) is rare in childhood. We report the case of a 5-year-old girl who presented with erythematous scaly plaques, with scarring alopecia, involving approximately 40% of her scalp. Histopathology confirmed the diagnosis of DLE. Treatment with intravenous methylprednisolone, hydroxychloroqui...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.00916.x
更新日期:2009-05-01 00:00:00
abstract::We report a girl with lipophagic lobular panniculitis of unknown origin located on her ankles leading to circumferential fat atrophy of the ankles, a condition usually referred to as "annular lipoatrophy of the ankles." According to our patient's features and five additional cases reported so far, we conclude that thi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01208.x
更新日期:2011-03-01 00:00:00
abstract::The most common cause of death in blue rubber bleb nevus syndrome is gastrointestinal bleeding. Here we present a case of central nervous system bleeding that resulted in death. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12718
更新日期:2016-01-01 00:00:00
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
更新日期:2020-01-01 00:00:00
abstract::We present a case of an infant with severe atopic dermatitis infected with Streptococcus pyogenes who presented with pustules, honey-colored crusts, and punched-out erosions with scalloped borders mimicking eczema herpeticum or eczema coxsackium. We draw attention to this case to highlight the similar clinical appeara...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13956
更新日期:2019-11-01 00:00:00
abstract::Tuberculosis (TB) of the ribs is extremely rare and its diagnosis is often delayed due to the late appearance of radiologic signs. Although antituberculous drugs are the mainstay of treatment, surgery has a definite therapeutic role in recalcitrant or recurrent cases. A 5-year-old boy with scrofuloderma of the chest w...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2003.20406.x
更新日期:2003-07-01 00:00:00
abstract::Molluscum contagiosum is a common childhood condition, and although it is self-limited, treatments are often prescribed. Several medications are available, but there is no consensus regarding the optimal choice in the pediatric population. We report a child who underwent potassium hydroxide 5% treatment resulting in s...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14015
更新日期:2020-01-01 00:00:00
abstract::An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13126
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:Bullous impetigo (BI) is a common skin infection of early childhood, resulting from desmoglein-1 cleavage by Staphylococcus aureus exfoliative toxins. Due to compromised barrier function and immune dysregulation, children with atopic dermatitis (AD) are at increased risk of cutaneous infections, yet no liter...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.14032
更新日期:2020-01-01 00:00:00
abstract::Connective tissue nevi of collagen type are now classified in four major subtypes. In addition to the clinicopathological features of papulolinear collagenoma, which is considered as a variant of isolated collagen harmatoma, the case we present has a unique arborizing pattern. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00842.x
更新日期:2009-01-01 00:00:00
abstract::Throughout history, individuals have had a myriad of dermatologic conditions characterized as chronic pruritic dermatoses. The term atopic dermatitis was not coined until the early 20th century. Many diseases typical of this condition were reported using a variety of eponyms and descriptive terms. Even as the incidenc...
journal_title:Pediatric dermatology
pub_type: 历史文章,杂志文章,评审
doi:10.1111/pde.12853
更新日期:2016-07-01 00:00:00
abstract::Stevens-Johnson syndrome and toxic epidermal necrolysis comprise a spectrum of severe mucocutaneous hypersensitivity reactions. A paucity of data limits current understanding of the etiology, treatment options, and prognosis of this entity in the infantile population compared to that in the adult and pediatric literat...
journal_title:Pediatric dermatology
pub_type:
doi:10.1111/pde.14376
更新日期:2020-10-30 00:00:00
abstract::In addition to the evaluation of melanocytic growths (Part I), dermoscopy is helpful in the identification and management of vascular tumors, skin infections, and inflammatory conditions. In this practical review, we present the classic dermoscopic findings of the following: vascular tumors, infectious conditions (mol...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.14284
更新日期:2020-09-01 00:00:00
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 man...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2005.00105.x
更新日期:2005-09-01 00:00:00