Author(s) : Keiji Sugiura, Mariko Sugiura, Kazuhiro Kurita, Toshiro Okagawa , Department of Environmental Dermatology and Allergology, Daiichi Clinic, Nittochi Nagoya Bld. 2F, 1-1 Sakae 2, Nakaku, Nagoya, 460-0008, Japan, Department of Orthopedics, Aichi Aoitori Institution for Disabled, 5-89, Nakaotai, Nishiku, Nagoya, 452-0822, Japan, Department of Rehabilitation, Aichi Aoitori Institution for Disabled, 5-89, Nakaotai, Nishiku, Nagoya, 452-0822, Japan. |
ARTICLE
Auteur(s) : Keiji Sugiura1,
Mariko Sugiura1, Kazuhiro Kurita2, Toshiro
Okagawa3
1Department of Environmental Dermatology
and Allergology, Daiichi Clinic, Nittochi Nagoya Bld. 2F,
1-1 Sakae 2, Nakaku, Nagoya, 460-0008, Japan
2Department of Orthopedics, Aichi Aoitori
Institution for Disabled, 5-89, Nakaotai, Nishiku, Nagoya,
452-0822, Japan
3Department of Rehabilitation, Aichi Aoitori
Institution for Disabled, 5-89, Nakaotai, Nishiku, Nagoya,
452-0822, Japan
A 6-year-old boy with autism had developed a round shaped hard
swelling (figure
1) on his left foot the age of 3 or 4. This swelling had
gradually elevated and sometimes shown inflammation. Our first
diagnosis was calcifying epithelioma. X-ray showed calcification on
his left foot, inside his big toe (figure 1), possibly due to
ossification or polydactyly of the left foot. We treated him with
surgical removal under local anesthesia. Histopathological findings
showed bone tissue formation (figure 1) and no cartilage
tissue. Our final diagnosis was idiopathic and heterotopic
ossification (HO).
Generally heterotopic ossification (HO) is present after
surgical treatment [1, 2] or trauma [3, 4]. His parents said this
patient had not had any surgical operations or traumas. Therefore
the origin of this ossification was unknown. Because this patient
had autism, he may not have been able to express the presence of
any traumas very well. We do not know when his HO developed; it was
possibly present --in his left foot as early as infancy. Generally,
in many polydactyly cases, bone formations are like ramifications.
X-ray findings showed this case to be similar to polydactyly,
because it resembles the bones in an infant stage, especially like
the epiphyseal line. There were no continuances to other bones and
there were no arteries and veins for this HO. Three disorders are
common as ossification: Fibrodysplasia ossifications progressiva
(FOP), Albright hereditary osteodystrophy (AHO) and Progressive
osseous heteroplasia (POH). We discuss these disorders in table 1, which is useful for differential
diagnosis. Generally, patients with autism do not have any
ossification, and this patient did not have any disease and
syndrome except for autism. This patient had an isolated
ossification. Our final diagnosis was heterotopic idiopathic
ossification in the left foot. Radiotherapy is effective for HO [5,
6]. Because this patient was 6 years old, we did not use
radiotherapy due to consideration of side effects. Our treatment
was a surgical operation under local anesthesia for diagnosis,
there were no findings of recurrence and development after 5
months. This case was uncommon based on the origin of the HO, the
clinical findings, and the age of patient.
Table 1 Differential diagnosis for ossification
disease
|
Inheritance, gene mutation
|
Ossification
|
Sex dominant
|
Onset
|
Characters and features
|
Limitation of mobility
|
Flare-up
|
Hormone
|
Calcium
|
Prognosis
|
Treatment
|
|
Fibrodysplasia ossifications progressiva (FOP)
|
Gene encoding the stimulatory G protein, gene encoding the BMPI
recepter (ACVR1), chromosome 2
|
Skeletal muscle, ligaments, connective tissue, endochondral
|
|
Infancy
|
Torticollis, deformity of thorax and neck, joint immobilization,
malformation of big toe
|
Severe
|
Severe, suddenly
|
|
|
Require assistance for life
|
No effective
|
|
Albright hereditary osteodystrophy (AHO)
|
Maternal or paternal inheritance, GNAS1 gene, mutation in
chromosome 20, deletion in the region 2q37 of chromosome
|
Skin and subcutaneous
|
|
|
Short neck, short stature, mental retardation, round face,
osteoporosis, low nasal bridge
|
No severe
|
|
High parathyroid hormone
|
Hypocalcemia
|
Good
|
|
|
Progressive osseous heteroplasia (POH)
|
Paternally inheritance, GNAS1 gene
|
Cutaneous and connective tissue
|
Female
|
Congenital and childhood
|
|
Severe
|
|
Normal
|
Normal
|
Better
|
No definitive
|
|
Idiopathic heterotopic ossification
|
None
|
Skin and subcutaneous
|
|
|
None
|
None
|
None
|
Normal
|
Normal
|
Good
|
Remove
|
Acknowledgements
Conflict of interest: none. Financial support: none.
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