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Mixed Sclerosing Bone Dystrophy

Also called: Osteopathia Striata Syndrome or MSBD

In researching the medical literature for any updated information, I came across a list of another rare two dozen syndrome that can either cause lymphedema or manifest it as a comorbidity. I will be creating information pages on all those conditions and I hope they can help others who have one of those syndromes.

Unfortunately, there is little information available in general and no abstracts or studies have been released on the condition since 1996.

Related Terms: Lymphedema, ostopathia, osteopoikilosis, bone density, MSBD, fibrous dysplasia, recalcitrant lateral epicondylitis, osteopathia striata, diffuse osteosclerosis, skeletal dysplasia, WTX, genotype, phenotype, X-linked


Jan. 22, 2012

What is Mixed Sclerosing Bone Dystrophy?

It is a rare form of osteosclerosis caused by a lack of calcium in the bones. The lack of calcium also leads to bone and joint deformities. It was first described by Voorhoeve and named by Fairbank in 1924, and its prevalence is less than 0.1 per 1 million.

Symptoms of Mixed Sclerosing Bone Dystrophy

Eight specific symptoms are in the medical ltierature, they include:

Skin nodules



Limb deformity in affected limb

Bone pain in affected limb

Restricted movement in affected limb



Causes Mixed Sclerosing of Bone Dystrophy

Genetic Transmission

Treatments for Mixed Sclerosing Bone Dystrophy

Overall treatment will be determined by the extent of the condition itself and/or comorbidities.

For example. manual decongestive therapy and the wearing of compression garments will treat the lymphedema.

Surgery may be necessary for correction of bone and/or joint difficulties.


Autosomal dominant disorder

The genetic mode of transmission is not yet definitively decided. Some believe the dysplasia is inherited as an autosomal dominant trait. Others propose an X-linked form of the disease associated with significant cranial abnormalities in which boys are more severely affected. There is a high degree of variability in the clinical expression of the disease. Exper Consult.

Abstracts and Studies

Mixed sclerosing bone dystrophy. Report of a case and review of the literature. Jul 1996

Belzunegui J, Plazaola I, Uriarte E, Gonzalez C, Figueroa M.


Rheumatology Unit, Hospital N.S. Aranzazu, San Sebastian, Spain.


A 63-year old woman was admitted because of hip pain. Radiographs showed multiple round and oval sclerotic lesions involving humeral heads, pelvis, vertebral bodies and both femoral bones. Diaphyseal periosteal proliferation was found in metatarsal bones. A diagnosis of mixed sclerosing bone dystrophy was made. We review clinical, epidemiological and radiological findings of this entity.


An unusual case of mixed sclerosing bone dystrophy presenting with morning stiffness and joint swelling in childhood: a case report.

Foeldvari I, Cairns RA, Petty RE, Cabral DA.


Department of Pediatrics, British Columbia's Children's Hospital, University of British Columbia, Canada.


We describe a case of a 16 year old native Indian girl with pain, morning stiffness and foot swelling who had radiographic changes consistent with mixed sclerosing bone dystrophy (MSBD) combined with fibrous dysplasia.


Mixed sclerosing bone dystrophy presenting with upper extremity deformities. A case report and review of the literature. Feb. 1992

Ostrowski DM, Gilula LA.


Brockwood Orthopedic Associates, Birmingham, Alabama.


We present a detailed study of a 59-year-old white woman with mixed sclerosing bone dystrophy: the rare occurrence of two or more sclerosing bone dysplasias in a single subject. She exhibited features of osteopoikilosis, osteopathia striata and melorheostosis. The symptoms were primarily the result of the melorheostosis lesions which were distributed within the C6 sclerotome. This is an unusual case of mixed sclerosing bone dystrophy in that the upper extremity was the main site of involvement, instead of the usual symmetrical involvement of all limbs. The patient developed a recalcitrant lateral epicondylitis in the un-involved contralateral elbow that required surgical treatment.


Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Jun 1991

Cantatore FP, Carrozzo M, Loperfido MC.


Department of Rheumatology, University of Bari, Italy.


A 64-year old man, presenting pain in his back and left sciatalgia, was found to have a mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Oval and round densities were found in the humeral heads, elbows, wrists, hands, pelvis, knees, feet. Striata densities were in the diaphyses of metacarpal and metatarsal bones. Bone scan was negative. Standard biochemical examinations of the blood and urine were negative. According to our investigations no evidence of osteopoikilosis other sclerosing bone dystrophies were found in the family of our patient. These data were discussed.


Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. 1990

Proto G, Bertolissi F, Moretti C, Corsi M.


Servizio di Endocrinologia, Ospedale Generale di Udine, Italy.

Erratum in Bone 1990;11(6):453.

Keywords: Osteopathia striata; Osteopetrosis; Cushing's syndrome


We present a 33-year-old female patient with the unusual association of mixed sclerosing bone dysplasia and Cushing's syndrome. The patient had the classical features of cortisol overproduction and investigation showed bilateral adrenal adenomas and radiographic abnormalities in bone of osteopathia striata and osteopetrosis: the mixed-sclerosing-bone-dystrophy (MSBD).


Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis. 1986

Pacifici R, Murphy WA, Teitelbaum SL, Whyte MP.


We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy, the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis, melorheostosis) in a single subject. Review of radiographs from 1942, when he was reported to have osteopetrosis, demonstrated diffuse osteosclerosis, osteopathia striata, osteopoikilosis, and focal cortical hyperostosis. Forty-two years later, there had been significant progression and evolution of his skeletal disease with the appearance of new areas of osteopathia striata and osteopoikilosis and a generalized increase in skeletal mass as assessed radiographically. Presence of subperiosteal bone apposition on biopsy of the iliac crest together with chronic mild hypocalcemia, secondary hyperparathyroidism, and hypophosphatemia suggested that enhanced bone formation, perhaps with defective skeletal resorption, is a fundamental abnormality which accounts for the increased bone mass of this patient.


The male phenotype in osteopathia striata congenita with cranial sclerosis. Oct 2011

Keywords: WTX;osteopathia striata with cranial sclerosis; skeletal dysplasia


Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre- and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage.

Wiley-Liss, Inc.

What is Osteopathia Striata Syndrome?

Osteopathia striata, an autosomal dominant disorder, has been diagnosed in a 19 year old mildly retarded woman. In addition, she has macrocephaly, a leonine facis, disfigurement of the lower jaw, a cleft palate and mixed hearing loss. Roentgenograms of the skull and long bones show thickening of the calvarium, particularly at the absed, mandibular hyperplasia, and striations in the long bones and pelvis. Except for the cleft palate, which has not been previously reported, and the retardation, which appears to be quite uncommon in this condition, these findings are characteristic of osteopathia striata. Because the disorder may resemble several other conditions, the differential diagnosis should include osteopoikilosis, the autoosomal dominant form of esteopetrosis, and hyperostosis corticalis generalisata.


External Links

Mixed Sclerosing Bone Dystrophies

Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature. 1981


Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis Nov-Dec 2011


99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis May 1978


Osteopathia Striata with Cranial Sclerosis; OSCS

OMIM 30073

Osteopathia striata with cranial sclerosis affecting three family members

Key words Osteopathia striata - Cranial sclerosis - Mandible - Osteopoikilosis - Osteosclerosis


Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. Sept 2010

Keywords: male survival;mutation update; osteopathia striata with cranial sclerosis; two novel WTX mutations


Osteopathia striata with cranial sclerosis owing to WTX gene defect. Jan. 2010

Keywords: osteopathia striata with cranial sclerosis; WTX; genotype; phenotype

Wiley Online

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. Oct 1997


Support Groups, Organizations and Resources

I Have Mixed Sclerosing Bone Dystrophy Experience Project

Patient Group Misx Sclerosing Bone Dystrophy

Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369

Telephone: 202-966-5557 Fax: 202-966-8553


Web site: Genetic Alliance

National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968

Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291


Web site: Orphnet is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.

The National Organization of Rare Disorders - NORD

The National Organization of Rare Disorders (NORD) has partnered with to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community above to learn more.

Rareshare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024

Telephone: 310-264-0826 Fax: 310-264-4766


Web site: **MUMS National Parent to Parent Network** 150 Custer Court Green Bay, WI 54301 Toll-free: 1-877-336-5333 Telephone: 920-336-5333 Fax: 920-339-0995 E-mail: [[

Web site: MUMS Parent to Parent Network


ResearchMatch ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer.



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mixed_sclerosing_bone_dystrophy.txt · Last modified: 2012/10/16 14:40 (external edit)