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Article

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.

American journal of medical genetics. Part A - 1 May 2018

Alessandrella Annalisa, Della Casa Roberto, Alessio Maria, Puente Prieto Jorge, Strisciuglio Pietro, Melis Daniela

Abstract excerpt

Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17-year-old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin...

Topics

Adolescent
Alleles
Amino Acid Substitution
Bone and Bones
Exons
Genetic Association Studies
Genetic Predisposition to Disease
Homozygote
Humans
Hydroxychloroquine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Organic Anion Transporters

Osteoarthropathy, Primary Hypertrophic

Phenotype

Radiography

Skin

Treatment Outcome

Source

Identifiers

PMID: 29681086
DOI: 10.1002/ajmg.a.38677

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