[Primary hypertrophic osteoarthropathy in an adolescent]

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• Hypertrophic osteoarthropathy (HO) is a rare syndrome featuring digital clubbing, periostosis, and dysacromelia.
• The primary form, pachydermoperiostosis (PDP), is typically familial and predominantly affects males.
• While often autosomal dominant, rare autosomal recessive forms of PDP have been documented.

Observation:

• A 13-year-old boy with primary hypertrophic osteoarthropathy but lacking pachydermia was identified.
• The patient was born from a consanguineous marriage, suggesting a potential genetic link.
• This case presented without the characteristic skin thickening (pachydermia) seen in typical PDP.

Findings:

• The reported case suggests an incomplete form of primary hypertrophic osteoarthropathy.
• The consanguineous parentage points towards a possible autosomal recessive inheritance pattern.
• This finding expands the known phenotypic and genotypic spectrum of pachydermoperiostosis.

Implications:

• This case highlights the importance of considering incomplete phenotypes in genetic disorders.
• It underscores the potential for autosomal recessive inheritance in primary hypertrophic osteoarthropathy.
• Further research into the genetic basis of incomplete PDP is warranted to understand its variability.