NDLI: Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

Please wait, while we are loading the content...

Year: 2017 Volume: 58

Year: 2016 Volume: 57

Year: 2015 Volume: 56

Year: 2014 Volume: 55

Year: 2013 Volume: 54

Year: 2012 Volume: 53

Year: 2012 Volume: 53 Issue: 4

Year: 2012 Volume: 53 Issue: 3

Year: 2012 Volume: 53 Issue: 2

Year: 2012 Volume: 53 Issue: 1

The use of methotrexate in dermatology: a review.

Effect of early and late mobilisation on split skin graft outcome.

Better, sooner, more convenient: a successful teledermoscopy service.

Sentinel lymph node biopsy in patients with Merkel cell carcinoma: an emerging role and the Westmead hospital experience.

A single centre melanoma thickness trend (1985-2009) in relation to skin areas accessible and non-accessible to self-inspection.

Determinants of the direction of hair follicle growth after reconstruction with dissociated cells.

Pilot study on the acceptance of mobile teledermatology for the home monitoring of high-need patients with psoriasis.

Dermoscopy of acquired digital fibrokeratoma.

Hybrid cysts: a clinicopathological study of seven cases.

Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: a pilot study of four patients.

The rapid onset of multiple squamous cell carcinomas in two patients commenced on ustekinumab as treatment of psoriasis.

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

Successful treatment of a severe persistent case of pemphigoid gestationis with antepartum and postpartum intravenous immunoglobulin followed by azathioprine.

Psoriasiform eruption triggered by a dipeptidyl peptidase IV inhibitor.

Changing the way we diagnose tuberculids with interferon gamma release assays.

Allergic contact dermatitis caused by a cell phone cover.

A case of erythema elevatum diutinum associated with peripheral ulcerative keratitis.

Methotrexate toxicity presenting as ulcerated psoriatic plaques.

Treatment-resistant elephantiasic thyroid dermopathy responding to rituximab and plasmapheresis.

Childhood actinic lichen planus: successful treatment with antimalarials.

Tinea nigra and dermoscopy.

Recurrent distal digital keratoacanthoma of the periungual region treated with Mohs micrographic surgery.

Folliculosebaceous cystic hamartoma of the ear and periauricular skin.

Year: 2011 Volume: 52

Year: 2010 Volume: 51

Year: 2009 Volume: 50

Year: 2008 Volume: 49

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Boyce, Aaron E. McGrath, John A. Techanukul, Tanasit Murrell, Dédée F. Chow, Chung Wo McGregor, Lesley Warren, Lachlan J.
Description	Country affiliation: Australia Author Affiliation: Boyce AE ( Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia. aaroneboyce@yahoo.com.au)
Abstract	Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare autosomal recessive genodermatosis resulting from mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1 (PKP1). Mutations in PKP1 may manifest with skin fragility and erosions, patches of scale crust on the trunk and limbs, peri-oral cracking and inflammation, hypotrichosis, palmoplantar keratoderma with painful fissuring and other somewhat variable ectodermal anomalies. Ten cases of the syndrome have been reported. We report a further case of this desmosomal genodermatosis. A 14-month old child, born to consanguineous parents, presented with a history of neonatal bullae and subsequent development of dystrophic nails, sparse eyelashes and eyebrows, woolly scalp hair, abnormal dental development and a desquamating erythematous rash at sites of trauma. A clinical diagnosis of ED-SFS was supported by skin biopsy findings of suprabasal intraepidermal clefting and a loss of immunoreactivity for PKP1. Sequencing of genomic DNA revealed a homozygous 5 base pair deletion in exon 5 of the PKP1 gene, designated c.897del5 (CAACC). This new mutation creates a frameshift, leading to a downstream premature termination codon, p.Pro299fsX61. This case highlights the clinicopathological consequences of inherited mutations in the PKP1 gene and illustrates the key role of desmosomes in skin biology.
File Format	HTM / HTML
ISSN	00048380
Issue Number	1
Volume Number	53
e-ISSN	14400960
Journal	Australasian Journal of Dermatology
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-02-01
Publisher Place	Australia
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Dermatology Base Sequence Ectodermal Dysplasia Genetics Plakophilins Sequence Deletion Skin Diseases Pathology Female Homozygote Humans Infant Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Dermatology

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in