Primary hypertrophic osteoarthropathy (hpoa)

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1. Primary Hypertrophic
Osteoarthropathy (HPOA)

2. A Case Report

3. 25 yr old Male
Progressive enlargement – hands & legs.
Increased Skin folds – forehead.
Pain – Knee & Ankle Joints, LBA.
Fever (+).
Burning pain – epigastrium.
Driver/non smoker/non alcoholic.
Admitted earlier outside & treated as FILARIASIS.
Had Anemia – transfused.
Driver/non smoker/non alcoholic.
Family history:

Case History

4. Findings:
Grade IV clubbing – Pan digital
B/L symmetrical enlargement of forearm and leg
Widening of Wrist
Vitals Normal. Thyroid and breast normal.
Cutis Vertis Gyrata (+)
Coarse wrinkles over forehead
Tylosis & Pseudoptosis (+)
Seborrhoea (+), Folliculitis (+)
Prominent Naso Labial folds (+)
Sparse Axillary & Pubic hair
B/L painless knee effusions
External genitalia – Normal
Systemic examination - Unremarkable

5. Cutis Vertis Gyrata

6. Note: 1. Coarse wrinkles over forehead 2. Tylosis 3. Seborrhoea
4. Folliculitis 5. Prominent Naso Labial folds

7. Note: Sparse hair growth over the Chest and Axilla.

8. Clubbing

9. Note: Clubbing in the feet with Symmetric enlargement of both ankles and knees.

10. Working diagnosis:
1.Hypertrophic oseoarthropathy
? Cause probably primary with bone
marrow involvement.
2.Acromegaly
3.Pagets disease

11. WORK UP
Haemogram : Microcytic Hypochromic
Anemia
Lymphocytosis
ESR – 28 mm/hr
RFT – Normal
LFT – ALP elevated
GTT – Normal
TSH – Normal
VDRL – Non – Reactive.
USG ABDOMEN & SCROTUM – Normal.
CT Chest & Abdomen – Normal.
X Rays :-
Skull, Chest, Wrist with hand, Chest, Pelvis and Legs with Ankle

12. • Cortical
Expansion
• Sella turcica
appears Normal

13. • Soft Tissue
Thickening
• Widening of
the ends of the
long bones
• Joint Space
Normal
• Periosteal
Thickening

14. Normal

15. • Periosteal
thickening
• Joint Space
Normal

16. • Long Bones B/L
Symmetrical
• Periosteal thickening

17. Radiologist opinion:
Differential Diagnosis
1. Diaphyseal dysplasia
2. Osteodermopathica hypertrophicans
3. Touraine Solente Gole syndrome.
Ortho Opinion:
Synovial fluid aspiration which was normal. Advised analgesics
and calcium.
Opthalmology Opinion:
Tylosis +, Pseudoptosis +, Myopic Astigmatism +. Prescribed
glasses.

18. Dermatology opinion:
Pachydermoperiostosis or
Touraine solente Gole syndrome.
Skin biopsy obtained from forehead to confirm
diagnosis.

19. Psychiatrist Opinion:
For IQ Assessment. BY Weschler Adult Intelligence scale, His IQ
was 100.
Cardiologist opinion:
Normal cardiac status clinically.
ECHO DONE:
Prolapse of AML+. EF 68 %. Intact IAS and IVS. Valves normal.

20. EGD: Hypertrophic gastric mucosal folds.

21. Skin Biopsy: –
Sections show skin lined by mild hyperkeratosis and
irregular acanthosis, shows hyperkeratotic plugs and pigment
incontinence, focal acantholysis and multiple pustules within the
epidermis with sebacious hyperplasia.
Gastric Mucosal Biopsy: –
Foveolar hyperplasia, tortuosity and cystic changes,
polypoid hyperplasia of the surface epithelium, stromal edema,
lymphoid collection, plasma cells and eosinophils seen.
Consistent with HYPERTROPHIC GASTROPATHY.
GH and IGF 1 levels normal.

22. Final Diagnosis:
Primary HypertrophicOsteoarthropathy or Pachydermoperiostosis or
Touraine Solente Gole syndrome with
1. Hypertrophic Gastropathy with Sliding
Hiatus hernia
2. Synovitis – Knee joint.
3. Lumbar spondylosis

23. Discussion
Hypertrophic osteoarthropathy has 2 forms.
PDP accounts for 5%. HPOA accounts for majority – cardiopulmonary
and malignancies.
Pachydermoperiostosis [PDP] Also Known As
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

24. 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.

25. 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.
A neurological basis is posited and stimulation of the vagal
neural crest has been suggested.
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
 A degree of chromosomal instability is considered possible, as
genetic disorders such as xeroderma pigmentosum, ataxia-
telangiectasia, and Fanconi anemia, among other diseases, have
been described in association with PDP.

26. 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.

27. Touraine et al described 3 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.
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

28. 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.

29. 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.

30. Rosenfeld-Kloepfer syndrome, a variant of PDP, is characterized
by enlargement of the mandible and/or the maxilla and corneal
leukoma.
Currarino idiopathic osteoarthropathy is a juvenile incomplete
form of PDP characterized by eczema and wide cranial sutures.
A variant form of PDP restricted to the lower extremities in the
absence of digital clubbing or typical skin changes has been
described.
Thyroid acropachy may cause diagnostic confusion. Unlike PDP,
thyroid acropachy is not painful.
Syphilitic periostosis can result in bony changes and symptoms
similar to those seen in PDP.

31. Lab Studies
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

32. 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.

33. 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.

34. Thank you…