1992, The British Journal of Radiology, 65, 266-268
Case reports Linear scleroderma and melorheostosis By Alan Siegel, MD and *tHadyn Williams, MD Department of Radiology, Division of Nuclear Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA and 'Department of Nuclear Medicine, Veterans Administration Medical Center, Philadelphia, Pennsylvania, USA {Received 5 March 1991 and in revised form 6 August 1991, accepted 4 September 1991) Keywords: Melorheostosis, Scleroderma, Hyperostosis
Melorheostosis is an uncommon sclerosing bone dysplasia, which has been associated with other mesenchymal abnormalities. We present a patient with linear scleroderma who has radiographic and scintigraphic confirmation of melorheostosis. Bone scintigraphy in a patient with linear scleroderma and melorheostosis has not, to the best of our knowledge, been previously described. Case report A 65-year-old woman was admitted for treatment of bilateral plantar fasciitis. Diagnosis of melorheostosis and linear scleroderma of the left leg was made in 1945 when the patient was 23 years of age. The disease process had reportedly been present since childhood. Owing to pain and limitation of movement in the left leg, she underwent a fasciotomy in the 1950s. Associated abnormalities include oesophageal dysmotility and Raynaud's phenomenon, for which she underwent a lumbar sympathectomy in 1953. Examination of the left leg revealed skin thickening on the medial aspect from the knee to the lower leg. Multiple scars were present, secondary to previous surgery. Radiographs revealed cortical hyperostosis of the medial femoral condyle, which apparently crossed the joint space, extended into the medial aspects of the proximal tibial plateau and continued down the entire length of the medial tibial diaphysis. There was narrowing of the medial compartment of the left knee (Fig. 1). Bone scintigraphy, performed 4 h following intravenous administration of 925 MBq (25 mCi) of technetium-99m methylene diphosphonate, demonstrated increased activity in the medial left femoral condyle, crossing the joint space into the medial aspect of the tibial plateau. Non-continuous uptake was seen in the mid-left tibia medially. No abnormally increased uptake was seen elsewhere in the skeleton (Fig. 2).
Discussion Melorheostosis, originally described in 1922 by Leri and Joanny, is a sclerosing dysplasia wherein the affected bone demonstrates a cortical or endosteal Address reprint requests to: Alan Siegel, MD, Division of Nuclear Medicine, Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA. tCurrent address: Nuclear Medicine Department, Georgia Baptist Medical Center, Atlanta, Georgia, USA. 266
hyperostosis said to resemble dripping candle wax (Leri & Joanny, 1922). Although any bone may be involved, the appendicular skeleton is usually affected. The disease may be monostotic or, more frequently, polyostotic, but almost always involves a single limb. Characteristically, the involvement will be along one side of the involved bone, i.e. medial or lateral (Campbell et al, 1968). Patients may be asymptomatic, or present with pain and/or limitation of motion (Campbell et al, 1968). The involved limb may be shortened, lengthened or bowed. There is no sex predilection and patients from birth to 71 years of age have presented with this disease (Fairbank 1948; Green et al, 1962; Wynne-Davies et al, 1985). Asymmetric contracture is the usual presenting complaint of infants and children (Younge et al, 1979). Heredity does not appear to be a factor and it is known that, at least in some cases, the skeletal changes are not present at birth. Melorheostosis tends to be slowly progressive (Campbell et al, 1968). Melorheostosis has been associated with other abnormalities of mesodermal origin. These include glomus tumours, vascular naevi, haemangiomas, arteriovenous malformations, lymphangiectasia, lymphangiomas, neurofibromatosis, hypophosphataemic rickets and linear scleroderma (Morris et al, 1963; Campbell et al, 1968; Lee & Sanderson, 1989). Linear scleroderma represents a localized proliferation of connective tissue, which may overlie areas of melorheostosis (Wagers et al, 1972). It has been hypothesized that linear scleroderma and melorheostosis are manifestations of a congenital disorder of mesodermal development (Muller & Henderson, 1963; Wagers et al, 1972). The changes of scleroderma may present earlier than the melorheostosis (Campbell et al, 1968). Melorheostosis has been discussed infrequently in the nuclear medicine literature, with only five previously reported cases involving radionuclide imaging, none with associated linear scleroderma (Janousek et al, 1976; Whyte et al, 1978; Resnick & Niwayama, 1981; Garver et al, 1982; Drane, 1987). Bone scintigraphy has shown mildly to moderately increased activity in all areas involved on radiographs and is said to be due to increased turnover of bone or increased bone mass in the affected area (Drane, 1987). In our case, the thin The British Journal of Radiology, March 1992
Case reports
(b)
regions of cortical hyperostosis in the proximal and distal tibia seen radiographically did not appear significantly abnormal on bone imaging. In view of the presumed constant state of metabolic activity of these
Figure 1. Anterior radiographs of the left knee (a) and the left lower leg (b). Cortical hyperostosis of the medial femoral condyle is present, crossing the joint space, and extending down the length of the medial tibial diaphysis.
osteosclerotic lesions, this is probably due to less abnormal bone mass in this region rather than less active osteoblastic activity. Nevertheless, radionuclide imaging produced results typical for melorheostosis:
(a) Figure 2. Anterior bone scan images of the knees (a) and the lower legs (b). There is increased uptake of bone tracer in regions of abnormal bone mass: the medial left femoral condyle, medial tibial plateau and the medial mid-left tibial diaphysis. Vol. 65, No. 771
267
1992, The British Journal of Radiology, 65, 268-271
Case reports
asymmetrical linear increased cortical uptake crossing a joint to involve a contiguous bone (Drane, 1987). Linear scleroderma has rarely been associated with melorheostosis (17 previously reported cases) (Wagers et al, 1972; Soffa et al, 1975; Younge et al, 1979). Systemic findings of scleroderma have not been associated with melorheostosis (Soffa et al, 1975). However, our patient did have a history of oesophageal dysmotility and Raynaud's phenomenon, two entities that have been associated with the systemic disease (Gilliland, 1987). Overall analysis of clinical presentation, radiographic findings and scintigraphic correlation are able to distinguish this rare entity from other causes of osteosclerosis.
literature. American 1096-1111.
Journal
of
Roentgenology,
87,
JANOUSEK, J. PRESTON, D. F., MARTIN, N. L. & ROBINSON,
R. G., 1976. Bone scan in melorheostosis. Journal of Nuclear Medicine, 17, 1106-1108. LEE, S. H. & SANDERSON, J., 1989. Case report: Hypophosphataemic rickets and melorheostosis. Clinical Radiology, 40, 209-211. LERI, A. & JOANNY, J., 1922. Une affection non decrite des os:
hyperostose "en coulee" sur toute la longueur d'un membre ou "melorheostose." Bulletins et Memoires de la Societe Medicale des Hopitaux de Paris, 46, 1141-1145. MORRIS, J. M.,
SAMILSON,
R. L. & CORLEY,
C. L., 1963.
Melorheostosis: review of the literature and report of an interesting case with a nineteen year follow-up. Journal of Bone and Joint Surgery, 45, 1191-1206. MULLER, S. A. & HENDERSON, E. D., 1963. Melorheostosis with
linear scleroderma. Archives of Dermatology, 88, 142-145. RESNICK, D. & NIWAYAMA, G., 1981. Enostosis, hyperostosis,
References CAMPBELL, C. J., PAPADEMETRIOU, T. & BONFIGLIO, M., 1968.
Melorheostosis: a report of the clinical, roentgenographic, and pathological findings in fourteen cases. Journal of Bone and Joint Surgery, 50 A, 1281-1304. DRANE, W. E., 1987. Detection of melorheostosis on bone scan. Clinical Nuclear Medicine, 12, 548-551. FAIRBANK, H. A. T., 1948. Melorheostosis. Journal of Bone and Joint Surgery, 30B, 533-543. GARVER, P., RESNICK, D., HAGHIGHI, P. & GUERRA, J., 1982.
Melorheostosis of the axial skeleton with associated fibrolipomatous lesions. Skeletal Radiology, 9, 41-44. GILLILAND, B. C , 1987. Progressive systemic sclerosis (diffuse scleroderma). In Harrison's Principles of Internal Medicine, ed. by E. Braunwald, K. J. Isselbacher, R. G. Petersdorf, J. D. Wilson, J. B. Martin & A. S. Fauci (McGraw-Hill, New York), pp. 1428-1432. GREEN,
A. E.,
ELSWOOD,
W. H.
& COLLINS,
J. R.,
1962.
Melorheostosis and osteopoikilosis with a review of the
and periostitis. In Diagnosis of Bone and Joint Disorders, ed. by D. Resnick & G. Niwayama (Saunders, Philadelphia), pp. 2977-2983. SOFFA, D. J., SIRE, D. J. & DODSON, J. H., 1975. Melorheostosis
with linear sclerodermatous skin changes. Radiology, 114, 577-578. WAGERS, L. T., YOUNG, A. W. & RYAN, S. F., 1972. Linear
melorheostotic scleroderma. British Journal of Dermatology, 86, 297-301. WHYTE,
M. P.,
MURPHY,
W. A.
&
SIEGEL,
B. A.,
1978.
" m Tc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis. Radiology, 127, 439-443. WYNNE-DA VIES, R.,
HALL,
C. M. & APLEY,
A. G.,
1985.
Melorheostosis. In Atlas of Skeletal Dysplasias (Churchill Livingstone, New York), pp. 508-511. YOUNGE, D., DRUMMOND, D., HERRING, J, & CRUESS, R. L.,
1979. Melorheostosis in children. Journal of Bone and Joint Surgery, 61B, 415-418.
Sonographic detection of neonatal hydrometrocolpos By Arpan K. Banerjee, MB, BS, MRCP, 0. Clarke, DCR(R), DMU and L. M. MacDonald, MB, BS, FRCR Department of Diagnostic Radiology, St Thomas' Hospital, London SE1 7EH, UK (Received 22 March 1991 and in final form 9 September 1991, accepted 20 September 1991) Keywords: Sonography, Neonate, Hydrometrocolpos
Hydrometrocolpos is the result of an obstruction of the genital tract by an intact hymen, a midplane transverse septum, cloacal anomalies or vaginal atresia. This obstruction allows an accumulation of secretions from the infant cervical mucous glands in the vagina and uterus stimulated by maternal oestrogen (Wilson et al, 1978; Nyberg, 1990). The incidence is reported to be between one in 16 000 births (Westerhout et al, 1964) and one in 30000 births 268
(Hill & Hirsch, 1985). Although several cases of hydrometrocolpos have been reported in the world literature (Mahoney & Chamberlain, 1940; Spencer & Levy, 1962; Reed & Griscom, 1973), there are very few reports of the ultrasonographic appearances of this condition (Sailer, 1979; Sawhney et al, 1990). We present two cases of hydrometrocolpos which showed classical ultrasound features and review the literature on the subject. The British Journal of Radiology, March 1992
Case reports Linear scleroderma and melorheostosis By Alan Siegel, MD and *tHadyn Williams, MD Department of Radiology, Division of Nuclear Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA and 'Department of Nuclear Medicine, Veterans Administration Medical Center, Philadelphia, Pennsylvania, USA {Received 5 March 1991 and in revised form 6 August 1991, accepted 4 September 1991) Keywords: Melorheostosis, Scleroderma, Hyperostosis
Melorheostosis is an uncommon sclerosing bone dysplasia, which has been associated with other mesenchymal abnormalities. We present a patient with linear scleroderma who has radiographic and scintigraphic confirmation of melorheostosis. Bone scintigraphy in a patient with linear scleroderma and melorheostosis has not, to the best of our knowledge, been previously described. Case report A 65-year-old woman was admitted for treatment of bilateral plantar fasciitis. Diagnosis of melorheostosis and linear scleroderma of the left leg was made in 1945 when the patient was 23 years of age. The disease process had reportedly been present since childhood. Owing to pain and limitation of movement in the left leg, she underwent a fasciotomy in the 1950s. Associated abnormalities include oesophageal dysmotility and Raynaud's phenomenon, for which she underwent a lumbar sympathectomy in 1953. Examination of the left leg revealed skin thickening on the medial aspect from the knee to the lower leg. Multiple scars were present, secondary to previous surgery. Radiographs revealed cortical hyperostosis of the medial femoral condyle, which apparently crossed the joint space, extended into the medial aspects of the proximal tibial plateau and continued down the entire length of the medial tibial diaphysis. There was narrowing of the medial compartment of the left knee (Fig. 1). Bone scintigraphy, performed 4 h following intravenous administration of 925 MBq (25 mCi) of technetium-99m methylene diphosphonate, demonstrated increased activity in the medial left femoral condyle, crossing the joint space into the medial aspect of the tibial plateau. Non-continuous uptake was seen in the mid-left tibia medially. No abnormally increased uptake was seen elsewhere in the skeleton (Fig. 2).
Discussion Melorheostosis, originally described in 1922 by Leri and Joanny, is a sclerosing dysplasia wherein the affected bone demonstrates a cortical or endosteal Address reprint requests to: Alan Siegel, MD, Division of Nuclear Medicine, Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA. tCurrent address: Nuclear Medicine Department, Georgia Baptist Medical Center, Atlanta, Georgia, USA. 266
hyperostosis said to resemble dripping candle wax (Leri & Joanny, 1922). Although any bone may be involved, the appendicular skeleton is usually affected. The disease may be monostotic or, more frequently, polyostotic, but almost always involves a single limb. Characteristically, the involvement will be along one side of the involved bone, i.e. medial or lateral (Campbell et al, 1968). Patients may be asymptomatic, or present with pain and/or limitation of motion (Campbell et al, 1968). The involved limb may be shortened, lengthened or bowed. There is no sex predilection and patients from birth to 71 years of age have presented with this disease (Fairbank 1948; Green et al, 1962; Wynne-Davies et al, 1985). Asymmetric contracture is the usual presenting complaint of infants and children (Younge et al, 1979). Heredity does not appear to be a factor and it is known that, at least in some cases, the skeletal changes are not present at birth. Melorheostosis tends to be slowly progressive (Campbell et al, 1968). Melorheostosis has been associated with other abnormalities of mesodermal origin. These include glomus tumours, vascular naevi, haemangiomas, arteriovenous malformations, lymphangiectasia, lymphangiomas, neurofibromatosis, hypophosphataemic rickets and linear scleroderma (Morris et al, 1963; Campbell et al, 1968; Lee & Sanderson, 1989). Linear scleroderma represents a localized proliferation of connective tissue, which may overlie areas of melorheostosis (Wagers et al, 1972). It has been hypothesized that linear scleroderma and melorheostosis are manifestations of a congenital disorder of mesodermal development (Muller & Henderson, 1963; Wagers et al, 1972). The changes of scleroderma may present earlier than the melorheostosis (Campbell et al, 1968). Melorheostosis has been discussed infrequently in the nuclear medicine literature, with only five previously reported cases involving radionuclide imaging, none with associated linear scleroderma (Janousek et al, 1976; Whyte et al, 1978; Resnick & Niwayama, 1981; Garver et al, 1982; Drane, 1987). Bone scintigraphy has shown mildly to moderately increased activity in all areas involved on radiographs and is said to be due to increased turnover of bone or increased bone mass in the affected area (Drane, 1987). In our case, the thin The British Journal of Radiology, March 1992
Case reports
(b)
regions of cortical hyperostosis in the proximal and distal tibia seen radiographically did not appear significantly abnormal on bone imaging. In view of the presumed constant state of metabolic activity of these
Figure 1. Anterior radiographs of the left knee (a) and the left lower leg (b). Cortical hyperostosis of the medial femoral condyle is present, crossing the joint space, and extending down the length of the medial tibial diaphysis.
osteosclerotic lesions, this is probably due to less abnormal bone mass in this region rather than less active osteoblastic activity. Nevertheless, radionuclide imaging produced results typical for melorheostosis:
(a) Figure 2. Anterior bone scan images of the knees (a) and the lower legs (b). There is increased uptake of bone tracer in regions of abnormal bone mass: the medial left femoral condyle, medial tibial plateau and the medial mid-left tibial diaphysis. Vol. 65, No. 771
267
1992, The British Journal of Radiology, 65, 268-271
Case reports
asymmetrical linear increased cortical uptake crossing a joint to involve a contiguous bone (Drane, 1987). Linear scleroderma has rarely been associated with melorheostosis (17 previously reported cases) (Wagers et al, 1972; Soffa et al, 1975; Younge et al, 1979). Systemic findings of scleroderma have not been associated with melorheostosis (Soffa et al, 1975). However, our patient did have a history of oesophageal dysmotility and Raynaud's phenomenon, two entities that have been associated with the systemic disease (Gilliland, 1987). Overall analysis of clinical presentation, radiographic findings and scintigraphic correlation are able to distinguish this rare entity from other causes of osteosclerosis.
literature. American 1096-1111.
Journal
of
Roentgenology,
87,
JANOUSEK, J. PRESTON, D. F., MARTIN, N. L. & ROBINSON,
R. G., 1976. Bone scan in melorheostosis. Journal of Nuclear Medicine, 17, 1106-1108. LEE, S. H. & SANDERSON, J., 1989. Case report: Hypophosphataemic rickets and melorheostosis. Clinical Radiology, 40, 209-211. LERI, A. & JOANNY, J., 1922. Une affection non decrite des os:
hyperostose "en coulee" sur toute la longueur d'un membre ou "melorheostose." Bulletins et Memoires de la Societe Medicale des Hopitaux de Paris, 46, 1141-1145. MORRIS, J. M.,
SAMILSON,
R. L. & CORLEY,
C. L., 1963.
Melorheostosis: review of the literature and report of an interesting case with a nineteen year follow-up. Journal of Bone and Joint Surgery, 45, 1191-1206. MULLER, S. A. & HENDERSON, E. D., 1963. Melorheostosis with
linear scleroderma. Archives of Dermatology, 88, 142-145. RESNICK, D. & NIWAYAMA, G., 1981. Enostosis, hyperostosis,
References CAMPBELL, C. J., PAPADEMETRIOU, T. & BONFIGLIO, M., 1968.
Melorheostosis: a report of the clinical, roentgenographic, and pathological findings in fourteen cases. Journal of Bone and Joint Surgery, 50 A, 1281-1304. DRANE, W. E., 1987. Detection of melorheostosis on bone scan. Clinical Nuclear Medicine, 12, 548-551. FAIRBANK, H. A. T., 1948. Melorheostosis. Journal of Bone and Joint Surgery, 30B, 533-543. GARVER, P., RESNICK, D., HAGHIGHI, P. & GUERRA, J., 1982.
Melorheostosis of the axial skeleton with associated fibrolipomatous lesions. Skeletal Radiology, 9, 41-44. GILLILAND, B. C , 1987. Progressive systemic sclerosis (diffuse scleroderma). In Harrison's Principles of Internal Medicine, ed. by E. Braunwald, K. J. Isselbacher, R. G. Petersdorf, J. D. Wilson, J. B. Martin & A. S. Fauci (McGraw-Hill, New York), pp. 1428-1432. GREEN,
A. E.,
ELSWOOD,
W. H.
& COLLINS,
J. R.,
1962.
Melorheostosis and osteopoikilosis with a review of the
and periostitis. In Diagnosis of Bone and Joint Disorders, ed. by D. Resnick & G. Niwayama (Saunders, Philadelphia), pp. 2977-2983. SOFFA, D. J., SIRE, D. J. & DODSON, J. H., 1975. Melorheostosis
with linear sclerodermatous skin changes. Radiology, 114, 577-578. WAGERS, L. T., YOUNG, A. W. & RYAN, S. F., 1972. Linear
melorheostotic scleroderma. British Journal of Dermatology, 86, 297-301. WHYTE,
M. P.,
MURPHY,
W. A.
&
SIEGEL,
B. A.,
1978.
" m Tc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis. Radiology, 127, 439-443. WYNNE-DA VIES, R.,
HALL,
C. M. & APLEY,
A. G.,
1985.
Melorheostosis. In Atlas of Skeletal Dysplasias (Churchill Livingstone, New York), pp. 508-511. YOUNGE, D., DRUMMOND, D., HERRING, J, & CRUESS, R. L.,
1979. Melorheostosis in children. Journal of Bone and Joint Surgery, 61B, 415-418.
Sonographic detection of neonatal hydrometrocolpos By Arpan K. Banerjee, MB, BS, MRCP, 0. Clarke, DCR(R), DMU and L. M. MacDonald, MB, BS, FRCR Department of Diagnostic Radiology, St Thomas' Hospital, London SE1 7EH, UK (Received 22 March 1991 and in final form 9 September 1991, accepted 20 September 1991) Keywords: Sonography, Neonate, Hydrometrocolpos
Hydrometrocolpos is the result of an obstruction of the genital tract by an intact hymen, a midplane transverse septum, cloacal anomalies or vaginal atresia. This obstruction allows an accumulation of secretions from the infant cervical mucous glands in the vagina and uterus stimulated by maternal oestrogen (Wilson et al, 1978; Nyberg, 1990). The incidence is reported to be between one in 16 000 births (Westerhout et al, 1964) and one in 30000 births 268
(Hill & Hirsch, 1985). Although several cases of hydrometrocolpos have been reported in the world literature (Mahoney & Chamberlain, 1940; Spencer & Levy, 1962; Reed & Griscom, 1973), there are very few reports of the ultrasonographic appearances of this condition (Sailer, 1979; Sawhney et al, 1990). We present two cases of hydrometrocolpos which showed classical ultrasound features and review the literature on the subject. The British Journal of Radiology, March 1992
