Characterized by hypertrophic osteoarthropathy, digital
clubbing, and subperiosteal new bone formation leading to pain, cutis verticis gyrata,
seborrhea, and hyperhidrosis.
Hypertrophic Osteoarthropathy Primary or Idiopathic;
First described by Friedreich in 1868.
It is associated with more than 5% of all cases of hypertrophic
osteoarthropathy. The male-to-female case ratio is approximately 7:1. It is more common in African
Americans than whites. In the United States, PDP is a rare disorder and the precise incidence is unknown.
Autosomal dominant pattern with variable
penetrance; autosomal recessive forms have been reported.
Clinically with appearance during childhood and slowly
progression. Although the evolution of the disease typically stops after 10 years,
significant morbidity can be seen. Severe kyphosis, restricted motion, and neurologic
manifestations are often significant. Life expectancy is normal except for individuals
presenting severe mental impairment. Three forms have been described:
Complete form with pachydermia (thickening of the facial skin and/or scalp) and periostitis;
Incomplete form with evidence of bone abnormalities but lacking pachydermia;
Form fruste with prominent pachydermia and minimal to absent skeletal
Features include skin anomalies (thick skin,
hypoplastic hyperconvex fingernails, cutis gyrata, hyperhidrosis) and limb
malformations (epiphyseal and cortical anomalies, terminal broadening fingers,
arthrosis). Lordosis, dislocated hip, genu varum, osteolysis, and osteoporosis may occur.
Acromegaloid facial features have been described.
Evaluate the airway in case
of severe pachydermic and acromegaloid changes (clinical, radiographs). The thyroid gland
should be checked.
Direct laryngoscopy and tracheal intubation can be difficult and might require adapted anesthetic
management. Digital pulse oximetry sensors can be of poor reliability
because of fingernail deformations. Careful intraoperative positioning is
needed because of skeletal involvement. Vascular access can be difficult
because of skin thickening.
Avoid muscle relaxants until tracheal
intubation is achieved and lung ventilation confirmed.
Rosenfeld-Kloepfer Syndrome: Characterized by an enlargement of the
mandible and/or the maxilla; large hands, feet, nose, lips, and tongue. Other features
include prominence of the upper part of the forehead; cutis verticis gyrata, and corneal
leukoma. It is known as a variant of PDP.
Friedreich N: Hyperostose des gesammten Skelettes. Arch Pathol Anat 43:83, 1868.
Jajic Z, Jajic I, Nemcic T: Primary hypertrophic osteoarthropathy: Clinical,
radiologic, and scintigraphic characteristics. Arch Med Res
Sinha GP, Curtis P, Haigh D, et al: Pachydermoperiostosis in childhood. Br J Rheumatol