PLACK syndrome resulting from a novel homozygous variant in CAST.

Abstract:

:PLACK syndrome (OMIM 616295) is a form of generalized peeling skin syndrome (GPSS; OMIM 270300). It is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. We present a 5-year-old girl diagnosed with PLACK syndrome with typical clinical features and homozygosity for a novel variant.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Boggs JME,Irvine AD

doi

10.1111/pde.14383

subject

Has Abstract

pub_date

2020-10-03 00:00:00

eissn

0736-8046

issn

1525-1470

pub_type

  • Q-switched ruby laser treatment of traumatic tattooing induced by pencil point puncture in children.

    abstract::Traumatic tattoos induced by pencil point puncture in children may result in persistent disfigurement if left untreated. The Q-switched ruby laser effectively removes darkly colored cutaneous chromophores with minimal disruption of unaffected skin. We present a young patient with pencil point induced traumatic tattooi...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1997.tb00969.x

    authors: Knoell KA,Schreiber AJ,Kutenplon M,Milgraum SS

    更新日期:1997-07-01 00:00:00

  • Pediatric primary follicular mucinosis: further evidence of its relationship with mycosis fungoides.

    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

    authors: Santos-Briz A,Cañueto J,García-Dorado J,Alonso MT,Balanzategui A,González-Díaz M

    更新日期:2013-11-01 00:00:00

  • Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?

    abstract::A 40-year-old man and his 6-year-old only son had numerous, firm papulonodular lesions on their faces. Their medical histories were unremarkable and no family consanguinity was recorded. Surgical excision of several lesions was performed on each patient. All the lesions were solid tumors with the characteristic histop...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1995.tb00195.x

    authors: Pujol RM,Casanova JM,Egido R,Pujol J,de Moragas JM

    更新日期:1995-12-01 00:00:00

  • Urticarial lesions in a child with acute lymphoblastic leukemia and eosinophilia.

    abstract::The hypereosinophilic syndrome (HES) is defined by a longer than 6-month history of peripheral blood hypereosinophilia (greater than 1.5 x 10(9)/L), with signs and symptoms of internal organ involvement, in the absence of an identifiable cause. HES is therefore a diagnosis of exclusion. Patients have been reported who...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2003.20610.x

    authors: Hill A,Metry D

    更新日期:2003-11-01 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

  • Raynaud phenomenon after treatment of verruca vulgaris of the sole with intralesional injection of bleomycin.

    abstract::Intralesional injection of bleomycin (BLM) for the treatment of warts resistant to all conventional therapies is of certain interest because of the drug's low toxicity and its efficacy. However, delayed side effects may appear, particularly Raynaud phenomenon. Accordingly, some precautions must be taken in patients wi...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1525-1470.2001.018003249.x

    authors: Vanhooteghem O,Richert B,de la Brassinne M

    更新日期:2001-05-01 00:00:00

  • Nodular lichen myxedematosus during childhood: a case report.

    abstract::Nodular lichen myxedematosus (LM) is a rare disease and is one of the five subtypes of localized LM. It is distinctly characterized by multiple nodules on the trunk and limbs with or without papular lesions. A healthy 6-year-old boy presented with complaints of "knots" on his right chest, upper limb, and thigh for 4 m...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12376

    authors: Zeng R,Li M,Jiang Y,Liu W

    更新日期:2014-11-01 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

  • Acanthosis nigricans: a common finding in overweight youth.

    abstract::We evaluated the prevalence of acanthosis nigricans among urban youth. Youth (7-17 years) at nine pediatric practices completed surveys on demographics and family history of diabetes and had weight and height measured. Acanthosis nigricans was scored and digital photography of the neck performed. A total of 618 youth ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2007.00547.x

    authors: Brickman WJ,Binns HJ,Jovanovic BD,Kolesky S,Mancini AJ,Metzger BE,Pediatric Practice Research Group.

    更新日期:2007-11-01 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

  • Statistical survey of skin changes in Japanese neonates.

    abstract::We observed 5387 infants over 10 years in weekly visits to a neonatal ward and obtained the following frequency data on these skin changes: erythema toxicum neonatorum, 40.8%; perianal dermatitis, 18.9%; scrotal pigmentation, 15.2%; miliaria, 8.5%; and adnexal polyp of neonatal skin, 4.1%. The frequencies of the types...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1986.tb00505.x

    authors: Hidano A,Purwoko R,Jitsukawa K

    更新日期:1986-02-01 00:00:00

  • Psoriasis first presenting around an enteral feeding tube in three pediatric patients: an important consideration for timely diagnosis and management.

    abstract::Pediatric dermatologists may care for patients with percutaneous enteral feeding tubes. Although ostomy complications such as allergic contact and irritant dermatitis are common, psoriasis may be misdiagnosed. We report three novel cases of childhood psoriasis first presenting around an enteral feeding tube site. Loca...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12211

    authors: Zitelli KB,Lucky AW

    更新日期:2014-01-01 00:00:00

  • Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck.

    abstract::We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cyt...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1997.tb00422.x

    authors: Paulger BR,Kraus EW,Pulitzer DR,Moore CM

    更新日期:1997-01-01 00:00:00

  • Acrodynia and hypertension in a young girl secondary to elemental mercury toxicity acquired in the home.

    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

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2012.01737.x

    authors: Mercer JJ,Bercovitch L,Muglia JJ

    更新日期:2012-03-01 00:00:00

  • Historical Perspectives on Atopic Dermatitis: Eczema Through the Ages.

    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

    authors: Bhattacharya T,Strom MA,Lio PA

    更新日期:2016-07-01 00:00:00

  • A lichen striatuslike eruption adopting the morphology of Blaschko lines.

    abstract::A 15-month-old girl had orange papules that formed V-shaped lines on her back. The clinical evolution and histology were compatible with the diagnosis of a lichen striatus-like eruption, adopting a special morphology by following Blaschko lines. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1991.tb00299.x

    authors: Jordá E,Zayas AI,Revert A,Donnini A,Ramón D,Torres V

    更新日期:1991-06-01 00:00:00

  • Ulcerated congenital plexiform fibrohistiocytic tumor: Case report and literature review.

    abstract::A newborn boy presented with a progressively infiltrating and painful congenital ulcerated plaque on the back of his left foot. A partial excision was performed and histopathologic examination confirmed a diagnosis of a plexiform fibrohistiocytic tumor. This rare tumor usually appears in children and adolescents, with...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/pde.13652

    authors: Nieto D,Feito M,Rueda JM,Rodríguez A,Berjón A,López JC,de Lucas R

    更新日期:2018-11-01 00:00:00

  • Crohn's disease of the vulva in an 8-year-old girl.

    abstract::An 8-year-old girl had Crohn's disease of the vulva 16 months before the onset of intestinal symptoms. At the time of diagnosis she had no evidence of systemic disease. Cutaneous and intestinal lesions responded rapidly to corticosteroids and metronidazole. Crohn's disease must be considered in the differential diagno...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1988.tb01148.x

    authors: Lally MR,Orenstein SR,Cohen BA

    更新日期:1988-05-01 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

  • Arborescent vascular dilatation mimicking Lichtenberg figures from lightning.

    abstract::The clinical presentation of arborizing vascular dilatation can resemble Lichtenberg figures from lightning. Both have a feather-like or ferning pattern. We report an interesting case of pressure-induced vasodilatation (PIV) caused by temporary vascular occlusion from jeans buttons. ...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.12350

    authors: Tempark T,Iwasaki J,Shwayder T

    更新日期:2014-07-01 00:00:00

  • Suppressive effects of topical mometasone furoate and tacrolimus on skin prick testing in children.

    abstract::Skin prick tests were performed in 12 children with atopic eczema before and after 2 weeks of treatment with topical mometasone furoate and tacrolimus. Both treatments significantly suppressed the allergen wheal size. Mometasone furoate reduced the histamine wheal size as well. Skin prick testing in children treated w...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.2008.00651.x

    authors: Gradman J,Wolthers OD

    更新日期:2008-03-01 00:00:00

  • Childhood granulomatous periorificial dermatitis with a good response to oral metronidazole.

    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

    authors: Rodriguez-Caruncho C,Bielsa I,Fernandez-Figueras MT,Ferrándiz C

    更新日期:2013-09-01 00:00:00

  • Should we biopsy melanonychia striata in Asian children? A retrospective observational study.

    abstract:BACKGROUND AND OBJECTIVES:Melanonychia striata is common in children of darker-skinned Asian races, while subungual melanoma is extremely rare and it is difficult to make a diagnosis clinically. However, performing nail unit biopsies in children is particularly challenging and can result in permanent nail dystrophy. Th...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13934

    authors: Colin Tan W,Wang DY,Seghers AC,Koh MJA,Nicholas Goh SG,Joyce Lee SS

    更新日期:2019-11-01 00:00:00

  • Atypical maculopapular cutaneous mastocytosis showing a nevus spilus-like lesion.

    abstract::A 13-year-old Korean girl presented with a 7-year history of a pruritic, light-brown patch containing multiple 0.2- to 0.5-cm brownish-to-reddish maculopapules on the left anterior chest. When her skin was rubbed, the lesion became itchy and red. Histopathologic evaluation demonstrated marked dense dermal infiltration...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.13541

    authors: Ahn HJ,Park HJ,Jeong KH,Park YK,Lee MH

    更新日期:2018-09-01 00:00:00

  • Chilblains in children in the setting of COVID-19 pandemic.

    abstract:BACKGROUND:Different skin manifestations of COVID-19 are being reported. Acral lesions on the hands and feet, closely resembling chilblains, have been recognized during the peak incidence of the COVID-19 pandemic. MATERIAL AND METHODS:A retrospective review of 22 children and adolescents with chilblain-like lesions se...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.14215

    authors: Andina D,Noguera-Morel L,Bascuas-Arribas M,Gaitero-Tristán J,Alonso-Cadenas JA,Escalada-Pellitero S,Hernández-Martín Á,de la Torre-Espi M,Colmenero I,Torrelo A

    更新日期:2020-05-01 00:00:00

  • Gamification improves melanoma visual identification among high school students: Results from a randomized study.

    abstract::Identification of melanoma or worrisome moles is often taught as an important part of routine skin checks. We sought to evaluate the efficacy of gamified education vs. traditional ABCDEs education on melanoma identification and self-confidence in identifying worrisome moles. We report that in our cohort (n = 271), par...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/pde.14158

    authors: Jia JL,Shen A,Tabata MM,Sarin KY

    更新日期:2020-07-01 00:00:00

  • Telangiectasia macularis eruptiva perstans.

    abstract::Telangiectasia macularis eruptiva perstans (TMEP) is a form of mastocytosis. It is an uncommon condition, particularly in children. The disorder is characterized by telangiectatic macules and generally has a good prognosis, with little tendency to urticate or cause constitutional symptoms. We report a girl who present...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1525-1470.2000.01750.x

    authors: Gibbs NF,Friedlander SF,Harpster EF

    更新日期:2000-05-01 00:00:00

  • Tuberous Sclerosis Complex: An Update for Dermatologists.

    abstract::Tuberous sclerosis complex is an autosomal dominant disorder that often manifests early in life with cutaneous features, and it is important that dermatologists who care for children remain up to date on its diagnosis and management. This article provides an update regarding the most recent guidelines for diagnosis pu...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/pde.12567

    authors: Jacks SK,Witman PM

    更新日期:2015-09-01 00:00:00

  • Histologic changes resembling the verrucous phase of incontinentia pigmenti within epidermal nevi: report of two cases.

    abstract::A wide spectrum of histopathologic changes has been reported to occur within epidermal nevi. We saw two patients with warty nevoid lesions in which histopathologic features of incontinentia pigmenti, verrucous phase, were present. The diagnosis of incontinentia pigmenti was excluded because both patients were male, la...

    journal_title:Pediatric dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1525-1470.1985.tb00490.x

    authors: Fletcher V,Williams ML,Lane AT

    更新日期:1985-11-01 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