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Dermatofibrosis lenticularis disseminata(BOS)

MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Synonyms: BOS; Buschke-Ollendorff Syndrome; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Dermatofibrosis, disseminated with osteopoikilosis; Dermatoosteopoikilosis; Osteopathia condensans disseminata
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
SNOMED CT: Dermatofibrosis lenticularis disseminata (60399005); Buschke-Ollendorf syndrome (60399005); Dermato-osteopoikilosis (60399005); Disseminated dermatofibrosis (60399005); Buschke-Ollendorff syndrome (9147009)
 
Gene (location): LEMD3 (12q14.3)
OMIM®: 166700

Definition

Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009). [from OMIM]

Additional description

From GHR
Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis.Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen.Osteopoikilosis, which is from the Greek words for "spotted bones," is a skeletal abnormality characterized by small, round areas of increased bone density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems.  https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome

Clinical features

Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Sarcoma
MedGen UID:
506452
Concept ID:
CN117138
Finding
A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Abnormal localization of kidney
MedGen UID:
866621
Concept ID:
C4020968
Anatomical Abnormality
An abnormal site of the kidney.
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Abnormality of the aorta
MedGen UID:
871269
Concept ID:
C4025756
Anatomical Abnormality
An abnormality of the aorta.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Finding
A general term for the complete or partial loss of the ability to hear from one or both ears.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in a muscle or group of muscles.
Flexion contracture
MedGen UID:
892408
Concept ID:
C2117118
Finding
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Mediastinal lymphadenopathy
MedGen UID:
506524
Concept ID:
CN117612
Finding
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Anatomical Abnormality
Any abnormality of the voice.
Hoarse voice
MedGen UID:
504872
Concept ID:
CN001465
Finding
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Hyperostosis
MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
Increase in the mass of bone per unit volume.
Osteochondrodysplasia
MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality
A general term describing features characterized by abnormal development of bones and connective tissues.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Increased bone mineral density
MedGen UID:
215128
Concept ID:
C1141880
Finding
A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease.
Flexion contracture
MedGen UID:
892408
Concept ID:
C2117118
Finding
Abnormality of epiphysis morphology
MedGen UID:
867251
Concept ID:
C4021611
Anatomical Abnormality
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Abnormal diaphysis morphology
MedGen UID:
446385
Concept ID:
CN000879
Finding
An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Sinusitis means your sinuses are inflamed. The cause can be an infection or another problem. Your sinuses are hollow air spaces within the bones surrounding the nose. They produce mucus, which drains into the nose. If your nose is swollen, this can block the sinuses and cause pain. There are several types of sinusitis, including. -Acute, which lasts up to 4 weeks. -Subacute, which lasts 4 to 12 weeks. -Chronic, which lasts more than 12 weeks and can continue for months or even years. -Recurrent, with several attacks within a year. Acute sinusitis often starts as a cold, which then turns into a bacterial infection. Allergies, nasal problems, and certain diseases can also cause acute and chronic sinusitis. Symptoms of sinusitis can include fever, weakness, fatigue, cough, and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. Your health care professional diagnoses sinusitis based on your symptoms and an examination of your nose and face. You may also need imaging tests. Treatments include antibiotics, decongestants, and pain relievers. Using heat pads on the inflamed area, saline nasal sprays, and vaporizers can also help. NIH: National Institute of Allergy and Infectious Diseases .
Abnormality of the teeth
MedGen UID:
78084
Concept ID:
C0262444
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Mediastinal lymphadenopathy
MedGen UID:
506524
Concept ID:
CN117612
Finding
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
Flexion contracture
MedGen UID:
892408
Concept ID:
C2117118
Finding
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Melanocytic nevus
MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Generalized hypopigmentation
MedGen UID:
340426
Concept ID:
C1849923
Finding
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Palmoplantar keratoderma
MedGen UID:
504675
Concept ID:
CN000920
Finding
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Nevus
MedGen UID:
425158
Concept ID:
CN003400
Finding
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.

Recent clinical studies

Diagnosis

Buechner SA, Itin P
Dermatology 2002;205(2):198-200. doi: 63914. PMID: 12218247
Al Attia HM, Sherif AM
Clin Rheumatol 1998;17(2):172-5. PMID: 9641521
Schirren H, Schirren CG, Stolz W, Kind P, Plewig G
Dermatology 1994;189(4):368-72. PMID: 7873822
Cole GW, Barr RJ
Arch Dermatol 1982 Jan;118(1):44-6. PMID: 7066092
Danielsen L, Midtgaard K, Christensen HE
Arch Dermatol 1969 Oct;100(4):465-70. PMID: 5358111

Prognosis

Al Attia HM, Sherif AM
Clin Rheumatol 1998;17(2):172-5. PMID: 9641521

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