Pachydermoperiostosis: The value of molecular diagnosis.

Ann Dermatol Venereol

Department of Dermatology, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75475 Paris cedex 10, France; MAGEC, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75475 Paris cedex 10, France. Electronic address:

Published: December 2017

AI Article Synopsis

  • Pachydermoperiostosis is a rare genetic disorder linked to mutations in two genes, HPGD and SLCO2A1, leading to symptoms like thickened skin and bone changes.
  • Two cases illustrate the disorder: a 7-year-old girl with HPGD mutation and a 41-year-old man with SLCO2A1 mutation, each presenting distinct symptoms and complications.
  • Genotype-phenotype correlations indicate that SLCO2A1 mutation patients may have more severe symptoms and complications, suggesting the need for molecular diagnosis and hematologic follow-up.

Article Abstract

Background: 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.

Patients And Methods: 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.

Discussion: 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.

Conclusion: Given the genotype/phenotype correlations illustrated by these cases, it would appear useful to propose molecular diagnosis for patients presenting pachydermoperiostosis.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2017.03.027DOI Listing

Publication Analysis

Top Keywords

molecular diagnosis
8
diagnosis pachydermoperiostosis
8
pachydermoperiostosis confirmed
8
confirmed detection
8
detection homozygous
8
homozygous mutation
8
cutis verticis
8
verticis gyrata
8
patients slco2a1
8
slco2a1 mutations
8

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!