Pachydermoperiostosis: The value of molecular diagnosis

• Published in: Annales de dermatologie et de vénéréologie 2017-12, Vol.144 (12), p.799-803
• Main Authors: Seta, V., Capri, Y., Battistella, M., Bagot, M., Bourrat, E.
• Format: Article
• Language: English
• Subjects: Adult; Child; Digital clubbing; DNA Mutational Analysis; Female; Genetic Association Studies; Genetic Markers - genetics; Hippocratisme digital; Homozygote; HPGD; Humans; Intramolecular Oxidoreductases - genetics; Male; Mutation; Organic Anion Transporters - genetics; Osteoarthropathy, Primary Hypertrophic - diagnosis; Osteoarthropathy, Primary Hypertrophic - diagnostic imaging; Osteoarthropathy, Primary Hypertrophic - genetics; Pachydermia; Pachydermie; Pachydermoperiostose; Pachydermoperiostosis; Predictive Value of Tests; Radiography; Sensitivity and Specificity; Severity of Illness Index; SLCO2A1
• ISSN: 0151-9638
• DOI: 10.1016/j.annder.2017.03.027

Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene. The second case concerned a 41-year-old male with acral and cephalic pachydermia (cutis verticis gyrata), and palmoplantar keratoderma. Bone X-rays showed changes in the distal ends of several bones. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the SLCO2A1 gene. The genotype/phenotype correlation suggests that patients with SLCO2A1 mutations will develop the symptoms later in life, but that these will be more severe, with a greater likelihood of cutis verticis gyrata and joint involvement compared with patients presenting HPGD mutations. In addition, hereditary enteropathy has recently been described in patients with SLCO2A1 mutations, which could account for the gastrointestinal picture seen in the second patient. Finally, on account of cases involving myelofibrosis associated with mutations in the SLCO2A gene, these patients should have a hematologic follow-up. Given the genotype/phenotype correlations illustrated by these cases, it would appear useful to propose molecular diagnosis for patients presenting pachydermoperiostosis. La pachydermoperiostose est une affection génétique rare à transmission autosomique récessive qui associe une périostose et une pachydermie à prédominance distale. Son démembrement moléculaire est en cours, avec deux gènes identifiés qui sont tous deux impliqués dans le métabolisme des prostaglandines, HPGD et SLCO2A1. Nous présentons deux cas de pachydermoperiostose qui illustrent l’intérêt du diagnostic moléculaire de cette affection. Cas 1 : une fille de 7 ans présentait dès la naissance une hypertrophie des dernières phalanges, une incurvation longitudinale et transversale des ongles, une hyperhidrose pulpaire franche, une pachydermie du dos des doigts des mains et des pieds, ainsi que des placards eczématiformes du tronc et des membres. Le diagnostic de pachydermoperiostose était confirmé par la mise en évidence d’une mutation homozygote du gène HPGD. Cas 2 : un homme de 41 ans, aux