First case report of Penttinen syndrome from India

Penttinen type of premature aging syndrome is an extremely rare progeroid disorder, caused by activating variants in the receptor tyrosine kinase domain of the PDGFRB gene. Only eight individuals have been previously reported worldwide, with a consistent phenotype of prematurely aged appearance, lip...

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 188; no. 2; pp. 683 - 687
Main Authors Aggarwal, Bhawana, Correa, Alec R. E., Gupta, Neerja, Jana, Manisha, Kabra, Madhulika
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.02.2022
Wiley Subscription Services, Inc
Subjects
Acro-Osteolysis - genetics
Aged
Aging
aging syndrome
Aging, Premature
Case reports
Humans
Hypoplasia
Kinases
Limb Deformities, Congenital - genetics
Lipoatrophy
Osteolysis
PDGFRB gene
Penttinen syndrome
phalangeal tufting
Phenotypes
Progeria - genetics
Protein-tyrosine kinase receptors
Receptor, Platelet-Derived Growth Factor beta - genetics
Skin diseases
Skin lesions
India
Penttinen syndrome
PDGFRB gene
aging syndrome
phalangeal tufting
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Summary:Penttinen type of premature aging syndrome is an extremely rare progeroid disorder, caused by activating variants in the receptor tyrosine kinase domain of the PDGFRB gene. Only eight individuals have been previously reported worldwide, with a consistent phenotype of prematurely aged appearance, lipoatrophy, hypertrophic skin lesions, proptosis, malar hypoplasia, and marked acro‐osteolysis. We report the first patient of Penttinen syndrome from India, with novel radiographic findings of terminal phalangeal tufting, thereby expanding the phenotypic spectrum of Penttinen syndrome.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62558