Question: What is (are) Buschke Ollendorff syndrome ?
Answer: Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS. BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms.
Source: GARD

Question: What are the symptoms of Buschke Ollendorff syndrome ?
Answer: What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the extremities (arms and legs). Occasionally, they may be on the head. The nevi are usually nontender and firm, and are typically first noticeable as slightly elevated and flattened yellowish bumps, grouped together and forming plaques that may be several centimeters in diameter. The plaques are typically of irregular shape. They are usually numerous, painless, and develop over several years. The osteopoikilosis typically occurs in the long bones, wrist, foot, ankle, pelvis, and scapula. They are harmless and usually found by chance when radiographs are taken for other purposes, although pain and limited joint mobility have been reported in some individuals. In some individuals, only skin or bone manifestations may be present. Other signs and symptoms of BOS may include nasolacrimal duct obstruction, amblyopia ("lazy eye"), strabismus, benign lymphoid hyperplasia, hypopigmentation (abnormally light skin), and short stature. Congenital spinal stenosis (narrowing of the spine), disc herniation, clubfoot deformity, and nerve root compression may be present. Otosclerosis (abnormal growth of bone in the middle ear) with or without hearing loss may occur, but is rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Buschke Ollendorff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Abnormality of epiphysis morphology 90% Abnormality of the aorta 90% Abnormality of the metaphyses 90% Abnormality of the teeth 90% Abnormality of the voice 90% Bone pain 90% Generalized hypopigmentation 90% Hearing impairment 90% Hyperostosis 90% Increased bone mineral density 90% Microcephaly 90% Sarcoma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Visual impairment 90% Mediastinal lymphadenopathy 50% Strabismus 50% Abnormal diaphysis morphology 7.5% Arthralgia 7.5% Arthritis 7.5% Atypical scarring of skin 7.5% Flexion contracture 7.5% Melanocytic nevus 7.5% Myalgia 7.5% Non-midline cleft lip 7.5% Palmoplantar keratoderma 7.5% Recurrent fractures 7.5% Type I diabetes mellitus 7.5% Autosomal dominant inheritance - Hoarse voice - Joint stiffness - Nevus - Osteopoikilosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Buschke Ollendorff syndrome inherited ?
Answer: How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.
Source: GARD

Question: How to diagnose Buschke Ollendorff syndrome ?
Answer: Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Source: GARD

Question: What are the treatments for Buschke Ollendorff syndrome ?
Answer: How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150]
Source: GARD