PA19 A rare case of Buschke–Ollendorff syndrome
Abstract We present a case of Buschke–Ollendorff syndrome (BOS) in a 6-year-old girl. The BOS is rare genodermatosis distinguished by the presence of short stature and skeletal and connective tissue defects. This patient first attended the dermatology department with a history of small asymptomatic...
Saved in:
| Published in: | British journal of dermatology (1951) 2023-06, Vol.188 (Supplement_4) |
|---|---|
| Main Authors: | , |
| Format: | Article |
| Language: | eng |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Abstract We present a case of Buschke–Ollendorff syndrome (BOS) in a 6-year-old girl. The BOS is rare genodermatosis distinguished by the presence of short stature and skeletal and connective tissue defects. This patient first attended the dermatology department with a history of small asymptomatic dermal papules and nodules noted overlying the skin on her abdomen since the age of 2 years. They became more numerous and evolved over her right buttock and left posterior calf. Subsequent investigation with ultrasound imaging illustrated that these lesions were elasotomas and, on a separate occasions, also suggested the possibility of a lipoma or collagenoma, and ruled out a sarcoma or malignancy. Skeletal survey of the upper limbs, hands, pelvis, lower limb and both feet highlighted the presence of well-defined sclerotic lesions involving the periarticular regions. This condition was again confirmed by clinical geneticists who advised that future family planning and confirmatory testing would identify the presence of LEMD3, responsible for this autosomal dominant condition. There was no history of genetic disorder within the family, but it was noted that the patients and both parents had a short stature, which is another hallmark feature of this condition. On successive reviews, the patient continued to display gradual enlargement of her elastomas and developed other cutaneous manifestations, including congenital naevi. This case report contributes to the appreciation of the clinical manifestation of this uncommon condition. |
|---|---|
| ISSN: | 0007-0963 1365-2133 |