2. Case History
18 year old Male hailing from Noakhali,presented with
o Progressive enlargement hands & legs for 2years.
• Insidious onset &gradually progressive
o Pain in multiple joints for 1.5 years.
• Involve ankle,knee,wrist&small joints of hands&feets.
• Mild to moderate intensity.
• Increases by activity &partially relieve by rest.
• Not associated with morning stiffness.
o Increases sweating more prominent in palm&sole.
3. Findings
• Grade IV clubbing – Pan digital of hands&toes.
• B/L symmetrical enlargement of forearm and leg
• Widening of Wrist &ankle.
• Thickening of skin over dorsal surface of fingers &
toes.
• Facial acne present
• Vitals Normal.
• Thyroid and breast normal.
• External genitalia – Normal
• Systemic examination - Unremarkable
5. WORK UP
• Haemogram : Microcytic Hypochromic Anemia
Lymphocytosis
• ESR – 18 mm/hr
• RFT – Normal
• LFT – Normal
• GTT – Normal
• TSH – Normal
• VDRL – Non – Reactive.
• USG ABDOMEN – Normal.
• Xray chest:Normal
6. Xray findings
• X Rays Skull:
• Cortical Expansion
• Sella turcica appears Normal
X Rays Wrist with hand, Chest, Pelvis and Legs with
Ankle:
• Soft Tissue Thickening
• Widening of the ends of the long bones
• Joint Space Normal
• Periosteal Thickening Long Bones B/L Symmetrical
• Periosteal thickening
7. Final Diagnosis:
• Primary HypertrophicOsteoarthropathy or
Pachydermoperiostosis or Touraine Solente
Gole syndrome
8. Discussion
• Hypertrophic osteoarthropathy has 2 forms.
• PDP accounts for 5%. HPOA accounts for
majority – cardiopulmonary and malignancies
• Pachydermoperiostosis [PDP] Also known as:
Audry’s syndrome I Brugsch's syndrome (same
condition plus acromicria) Friedreich-Erb-
Arnold syndrome Roy's syndrome Roy-Jutras
syndrome Uehlinger's syndrome
9. • Described by Hippocrates in 450 BCE and were also
observed in skeletons found in Central America.
• Primary HOA was first described by Friedrich in 1868
as “hyperostosis of the entire skeleton.
• In 1890 Pierre Marie defined it as pneumonic
hypertrophic osteopathy.
• Touraine, Solente and Golé characterized PDP as a
primary form of hypertrophic osteopathy in 1935.
• PDP typically begins during childhood or adolescence
and progresses gradually over the next 5-20 years
before stabilizing.
• The male-to-female case ratio is approximately 7:1.
• PDP is more common in African Americans than in
whites.
• Life expectancy may be normal.
10. • Transmitted in Autosomal dominant form with
incomplete penetrance and variable expression. Even
recessive forms occur.
• Family history can only be traced in around 25% to 38%
of cases.
• Abnormalities in fibroblast functionality have been
implicated, along with an increase in the synthesis of
collagen fibers.
• Platelets, with their potent growth factors, have also
been suspected.
• Alcohol intake aggravates the process .
11. • Finally, greater cellular hypersensitivity to
external stimuli (physical and chemical agents)
may explain the predisposition of these
patients to develop certain kinds of cancer.
• PHO to chromosome 4q33-q34 and identified
mutations in HPGD, encoding 15-
hydroxyprostaglandin dehydrogenase, the main
enzyme of prostaglandin degradation.
Homozygous individuals develop PHO
secondary to chronically elevated prostaglandin
E(2) levels. Heterozygous relatives also show
milder biochemical and clinical manifestations.
12. Forms of PDP:
• (1) a complete form with pachydermia and
periostitis.
• (2) an incomplete form with evidence of bone
abnormalities but lacking pachydermia.
• (3) a forme fruste with prominent
pachydermia and minimal-to absent skeletal
changes.
13. Patients may complain of the following signs or
symptoms
• Enlargement of the fingers and the toes
• Swelling or pain of the large joints
• Coarsening of facial features
• Grooves or depressions in the scalp
• Oily, scaly facial skin
• Excessive sweating of the palms, soles, or other
areas
• A sensation of warmth or burning in the hands
and feet
14. Examination may reveal the following
• Digital clubbing and/or paronychial thickening may be observed.
• Coarse facial features may be reminiscent of acromegaly. Facial skin
changes may include sclerodermoid thickening and furrowing of
the skin on the forehead and the cheeks. Leonine facies may occur
in advanced stages.
• Cutis verticis gyrata (undulating grooved and thickened scalp) may
become apparent during adolescence.
• Seborrheic dermatitis of the face and the scalp may be present.
• Palmoplantar hyperhidrosis or generalized hyperhidrosis
characterized by shiny and/or wet skin may be observed.
• Dermatitis of the hands and the feet may be associated with
hyperhidrosis. Bilateral blepharoptosis may be present.
• Facial acne may be present.
15. Associations:
• Gastrointestinal pathology, including gastric carcinoma, Crohn
disease, peptic ulcer disease, chronic gastritis, and Ménétrièr
disease
• Myelofibrosis
• Gynecomastia
• Compressive neuropathy
• Hypoplastic internal genitalia
• Psoriatic onychopathy
• Periodontal and alveolar bone abnormalities
• Spondylolisthesis of the L5-S1 vertebrae
• Congenital cardiac disease
• Mental retardation.
16. Lab findings
• Thyrotropin and growth hormone levels.
• RPR and VDRL should be checked. Imaging Studies
• Radiographs of the long bones reveal subperiosteal
new bone formation. Mainly seen in the distal tibia;
the fibula; the radius; the ulna; the metacarpals; the
phalanges; and, less frequently, the metatarsals. Acro-
osteolysis and ossification of the ligaments and
interosseus membranes may also occur.
• Other abnormalities:
• Cortical thickening without narrowing of the medullary
cavity
• Enlargement of the paranasal sinuses
17. Radio nucleotide bone imaging (bone scan)
findings:
• Increased radiopharmaceutical uptake in the diaphyses
and the metaphyses of long bones along the cortical
margins.
• Uptake may result from hyperemia occurring prior to
subperiosteal proliferation.
• Periarticular regions may also have increased uptake
because of associated synovitis.
• Scintigraphic findings (such as those described above)
often precede changes noted on radiographs.
• Less commonly may involve the mandible, the maxilla,
the clavicles, the scapulae, and the patellae.
18. Management
• Medical Care
NSAIDs or corticosteroids.
• Surgical Care
• Vagotomy may improve the articular pain and swelling
associated with PDP.
• Plastic surgery may improve the appearance of the face
and scalp by excising redundant skin and correcting the
cutis verticis gyrata. Bilateral blepharoplasties, tarsal wedge
resections, excision of skin furrows, and facial rhytidectomy
have been described as methods of providing cosmetic
improvement. Patient Education.
• Genetic counseling to patients and their families.
