scholarly journals Adult-onset en coup de sabre scleroderma in a patient with linear localized scleroderma profunda: A case report and literature review

2021 ◽  
Vol 9 ◽  
pp. 2050313X2199330
Author(s):  
Roxana Mititelu ◽  
Zainab Ridha ◽  
Lydia Ouchene ◽  
Elena Netchiporouk
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Adult Patient ◽  
Localized Scleroderma ◽  
Adult Onset ◽  
Unique Case ◽  
Oral Methotrexate ◽  
Linear Scleroderma ◽  
Oral Steroids ◽  
Linear Localized Scleroderma

The en coup de sabre variant of linear scleroderma typically occurs in children. We report a unique case of adult-onset en coup de sabre scleroderma in a patient with linear localized scleroderma profunda. The patient was treated with oral steroids and oral methotrexate improving her cutaneous disease. This case highlights the importance of a thorough cutaneous examination as this adult patient developed an entity traditionally believed to occur in childhood.

scholarly journals Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

2016 ◽  
Vol 2016 ◽  
pp. 1-9
Author(s):  
Benjamin Korman ◽  
Jun Wei ◽  
Anne Laumann ◽  
Polly Ferguson ◽  
John Varga
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Late Onset ◽  
Skin Lesions ◽  
Localized Scleroderma ◽  
Adult Onset ◽  
Unique Case ◽  
Gene Encoding ◽  
Inner Nuclear Membrane Protein ◽  
Bone Abnormalities

Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in theLEMD3gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familialLEMD3mutations.Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in theLEMD3gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the sameLEMD3mutation.Conclusions and Relevance. We report a unique familialLEMD3mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

scholarly journals Correction to: Spontaneous Regression of Ovarian Carcinoma After Thyroiditis: a Unique Case Report and Literature Review

2021 ◽  
Author(s):  
Alessandra Surace ◽  
Giorgia Pasquero ◽  
Donatella Tota ◽  
Stephanie Gentile ◽  
Elisa Picardo ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Ovarian Carcinoma ◽  
Spontaneous Regression ◽  
Unique Case

A unique case of purple urine: A case report and literature review

2021 ◽  
Vol 95 (5) ◽  
pp. 273-277
Author(s):  
Abinet M. Aklilu ◽  
Zachary M. Avigan ◽  
Ursula C. Brewster
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Unique Case ◽  
Purple Urine

Bilateral anterior superior iliac spine apophysis avulsion fractures in a skeletally mature patient: case report and literature review

2021 ◽  
Vol 103 (2) ◽  
pp. e74-e75
Author(s):  
M Flatman ◽  
Z Harb
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Adult Patient ◽  
Road Traffic ◽  
Anterior Superior Iliac Spine ◽  
Patient Case ◽  
Avulsion Fractures ◽  
Good Outcome ◽  
Road Traffic Collision ◽  
Mature Patient

We present a case of bilateral anterior superior iliac spine avulsion fractures in an adult patient who was involved in a road traffic collision. Her injuries were managed conservatively and she has had an uncomplicated recovery with a good outcome. This is, to our knowledge, the only reported case of bilateral simultaneous anterior superior iliac spine apophyseal avulsion fractures in an adult.

Gingival juvenile xanthogranuloma in an adult patient: case report with immunohistochemical analysis and literature review

2009 ◽  
Vol 107 (2) ◽  
pp. 246-252 ◽  
Author(s):  
Alberto Consolaro ◽  
Eduardo Sant'Ana ◽  
Melaine A. Lawall ◽  
Maria Fernanda M.O. Consolaro ◽  
Carlos Eduardo Bacchi
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Adult Patient ◽  
Immunohistochemical Analysis ◽  
Juvenile Xanthogranuloma ◽  
Patient Case

scholarly journals Endocarditis in Adult-onset Still Disease: A Case Report and Literature Review

2018 ◽  
Vol 45 (8) ◽  
pp. 1200-1200
Author(s):  
XIN DANG ◽  
YONGMEI HAN ◽  
XINHUA ZHANG
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Adult Onset ◽  
Still Disease

scholarly journals A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

2019 ◽  
Vol 9 (7) ◽  
Author(s):  
Jian‐Yong Wang ◽  
Song‐Fang Chen ◽  
Hong‐Qiu Zhang ◽  
Meng‐Yan Wang ◽  
Jian‐Hong Zhu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Transfer Rna ◽  
Homozygous Mutation ◽  
Adult Onset
Sign in / Sign up

Export Citation Format

Share Document