Buschke–Ollendorff sign | |
---|---|
Other names | Dermatofibrosis lenticularis disseminata [1] |
![]() | |
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance. | |
Symptoms | Papules in skin [1] |
Causes | Mutations in the LEMD3 gene. [2] |
Diagnostic method | X-ray, ultrasound [3] |
Treatment | Surgery for hearing loss(or complications) [4] |
Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules. [1] [5]
It is inherited in an autosomal dominant manner. [6] [7] Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others. [1]
Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. [4] It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928. [1] [8]
The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss [2] [4]):
Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene. [9]
Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are: [9] [10] [11]
The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as: [2] [3]
The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following: [3]
In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. [4]
Treatment for hearing loss may also require surgical intervention. [4]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite book}}
: CS1 maint: multiple names: authors list (
link)Buschke–Ollendorff sign | |
---|---|
Other names | Dermatofibrosis lenticularis disseminata [1] |
![]() | |
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance. | |
Symptoms | Papules in skin [1] |
Causes | Mutations in the LEMD3 gene. [2] |
Diagnostic method | X-ray, ultrasound [3] |
Treatment | Surgery for hearing loss(or complications) [4] |
Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules. [1] [5]
It is inherited in an autosomal dominant manner. [6] [7] Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others. [1]
Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. [4] It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928. [1] [8]
The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss [2] [4]):
Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene. [9]
Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are: [9] [10] [11]
The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as: [2] [3]
The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following: [3]
In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. [4]
Treatment for hearing loss may also require surgical intervention. [4]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite book}}
: CS1 maint: multiple names: authors list (
link)