| An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation. | |
| | |
MedLine Citation:
|
PMID: 18577046 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Netherton syndrome is a rare genodermatosis characterized by ichthyosiform scaling, hair shaft abnormalities, and atopic features. Affected infants typically have delayed growth and development, immune abnormalities with recurrent infections, and intermittent aminoaciduria. We report a 23-day-old girl who presented with severe primary pulmonary hypertension, exfoliative erythroderma, and trichorrhexis invaginata. Genetic studies confirmed a premature termination mutation R350X in exon 12 of SPINK5. This mutation further supports the genotypic-phenotypic prediction that severe sequela result from premature termination mutations. To our knowledge, this is the first instance of Netherton syndrome associated with primary pulmonary hypertension to be reported. Further postulated is a possible link between excessive desquamation of fetal skin and respiratory failure in a neonate with Netherton syndrome. |
| | |
Authors:
|
Cathy A Macknet; Ashraf Morkos; Leela Job; Maria C Garberoglio; Robin D Clark; Kenneth D Macknet; Ricardo L Peverini |
Related Documents
:
|
20655066 - Melas syndrome associated with both a3243g-trnaleu mutation and multiple mitochondrial ... 15300846 - Infevers: an evolving mutation database for auto-inflammatory syndromes. 18331556 - Morphology of the sella turcica in axenfeld-rieger syndrome with pitx2 mutation. 17330256 - A splice site mutation confirms the role of lpin2 in majeed syndrome. 9853946 - Reconstruction of intractable ulcer of the knee joint in werner's syndrome with free la... 3266846 - Primary immunodeficiency diseases: a presentation of 6 cases. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Pediatric dermatology Volume: 25 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2008 May-Jun |
Date Detail:
|
Created Date: 2008-06-25 Completed Date: 2008-08-28 Revised Date: 2009-03-03 |
Medline Journal Info:
|
Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
|
Languages: eng Pagination: 368-72 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Codon, Nonsense Consanguinity DNA Mutational Analysis Extracorporeal Membrane Oxygenation Female Hair / pathology* Hair Diseases / congenital*, genetics, pathology Humans Hypertension, Pulmonary / complications, congenital*, therapy Ichthyosiform Erythroderma, Congenital* / genetics Infant, Newborn Proteinase Inhibitory Proteins, Secretory / genetics Skin / pathology Syndrome |
| Chemical | |
Reg. No./Substance:
|
0/Codon, Nonsense; 0/Proteinase Inhibitory Proteins, Secretory; 0/SPINK5 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Lipschütz [corrected] ulcers--four cases.
Next Document: Adult T-cell leukemia/lymphoma in an adolescent presenting with skin lesions.