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Dermatofibrosis lenticularis disseminata(BOS)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: BOS; Buschke-Ollendorff Syndrome; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Dermatofibrosis, disseminated with osteopoikilosis; Dermatoosteopoikilosis; Osteopathia condensans disseminata
SNOMED CT: Dermatofibrosis lenticularis disseminata (60399005); Buschke-Ollendorf syndrome (60399005); Dermato-osteopoikilosis (60399005); Disseminated dermatofibrosis (60399005); Buschke-Ollendorff syndrome (9147009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
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.
Gene (location): LEMD3 (12q14.3)
Monarch Initiative: MONDO:0008157
OMIM®: 166700
Orphanet: ORPHA1306


Buschke-Ollendorff syndrome (BOS) 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 MedlinePlus Genetics
Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.

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. In some cases, the nevi are subtle and hard to feel. 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," refers to small, round areas of increased bone density that appear as bright 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.

Other bone abnormalities can also occur with Buschke-Ollendorff syndrome, although they are less common. For example, a small percentage of affected individuals have melorheostosis, which is characterized by excess bone growth on the surface of existing bones in a pattern resembling dripping candle wax. Melorheostosis usually affects the bones in one arm or leg, although it can also affect bones in other areas of the body. This abnormality can cause long-lasting (chronic) pain, permanent joint deformities (contractures), and a limited range of motion of the affected body part.  https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome

Clinical features

From HPO
Lower limb asymmetry
MedGen UID:
Concept ID:
A difference in length or diameter between the left and right leg.
MedGen UID:
Concept ID:
Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Joint stiffness
MedGen UID:
Concept ID:
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Flexion contracture
MedGen UID:
Concept ID:
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hoarse voice
MedGen UID:
Concept ID:
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
MedGen UID:
Concept ID:
Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Epidermal nevus
MedGen UID:
Concept ID:
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Connective tissue nevi
MedGen UID:
Concept ID:
Neoplastic Process
Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDermatofibrosis lenticularis disseminata

Recent clinical studies


Buechner SA, Itin P
Dermatology 2002;205(2):198-200. doi: 10.1159/000063914. PMID: 12218247
Al Attia HM, Sherif AM
Clin Rheumatol 1998;17(2):172-5. doi: 10.1007/BF01452270. PMID: 9641521
Schirren H, Schirren CG, Stolz W, Kind P, Plewig G
Dermatology 1994;189(4):368-72. doi: 10.1159/000246881. 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


Al Attia HM, Sherif AM
Clin Rheumatol 1998;17(2):172-5. doi: 10.1007/BF01452270. PMID: 9641521

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