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 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.

Clinical Manifestations of Scleroderma

1995 ◽  
Vol 16 (2) ◽  
pp. 49-49
Author(s):  
Patricia L. Haber
Keyword(s):  
Systemic Sclerosis ◽  
Connective Tissue ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Localized Scleroderma ◽  
Unknown Etiology ◽  
Collagen Deposition ◽  
Muscle Fibrosis ◽  
Favorable Prognosis ◽  
Organ Systems

Scleroderma is a connective tissue disease of unknown etiology. Its most characteristic feature is thickening of the skin due to increased collagen deposition. However, the disease may involve multiple other organ systems. Two broad categories of scleroderma have been defined: localized and systemic. Although all forms of scleroderma are rare, localized scleroderma occurs more frequently than systemic sclerosis and has a more favorable prognosis. Several types of localized scleroderma exist. Morphea is characterized by the presence of one or more patches of hard, ivory-colored skin lesions. They begin with erythema and progress to nonpitting edema before becoming sclerotic. The margins of active lesions often have a violaceous hue. Underlying muscle fibrosis and atrophy may occur.

scholarly journals Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Ruby Upadhyay ◽  
Thomas P. Bleck ◽  
Katharina M. Busl
Keyword(s):  
Case Report ◽  
English Language ◽  
Clinical Presentation ◽  
Urea Cycle ◽  
Late Onset ◽  
Unique Case ◽  
Hyperammonemic Encephalopathy ◽  
Search Terms ◽  
Otc Deficiency ◽  
Cycle Disorders

Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery.Methods. We report a novel case of noncirrhotic hyperammonemia and review the literature on this topic. Selected literature for review included English-language articles concerning hyperammonemia using the search terms “hyperammonemic encephalopathy”, “non-cirrhotic encephalopathy”, “hepatic encephalopathy”, “urea-cycle disorders”, “ornithine transcarbamylase (OTC) deficiency”, and “fulminant hepatic failure”.Results. A unique case of isolated hyperammonemia diagnosed as late-onset OTC deficiency is presented. Existing evidence about hyperammonemia is organized to address pathophysiology, clinical presentation, diagnosis, and treatment. The case report is discussed in context of the reviewed literature.Conclusion. Late-onset OTC deficiency presenting with severe hyperammonemic encephalopathy and extensive imaging correlate can be fully reversible if recognized promptly and treated aggressively.

An unique case of celiac disease with hypocoagulation and secondary hyperparathyreodism in elderly patient - a case report

2017 ◽  
Author(s):  
Gocha Barbakadze ◽  
Lali Tigishvili ◽  
Levan Ramishvili ◽  
Nani Tsikarishvili ◽  
Koba Burnadze
Keyword(s):  
Elderly Patient ◽  
Celiac Disease ◽  
Case Report ◽  
Unique Case

Late-onset malignant glaucoma

2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Ramiro José Daud ◽  
Horacio Freile ◽  
Mauricio Freile ◽  
Soledad Mariano
Keyword(s):  
Intraocular Pressure ◽  
Case Report ◽  
Acute Pain ◽  
Late Onset ◽  
Slit Lamp ◽  
Normal Range ◽  
Slit Lamp Examination ◽  
Complete Occlusion ◽  
Malignant Glaucoma ◽  
The Right

A case report on a 49-year-old female with diagnoses of ocular hypertension in her left eye (LE) treated with 250 mg/day acetazolamide for 2 years. During the slit-lamp examination, complete occlusion of both iridocorneal angles was detected. Intraocular pressure (IOP) was 10 and 35 mmHg in the right eye and LE, respectively. Phacotrabeculectomy was performed in the LE. After 1 month of the procedure, the patient developed a slowly progressive miopization from −1 to −3 diopters (D) the following months. Approximately 3 months after surgery, the patient developed an episode of acute pain, athalamia, and IOP 45 mmHg in her LE. Late-onset malignant glaucoma was suspected and the patient was treated with topical hypotensive and cycloplegic agent until a prompt vitrectomy was performed. Deepening of the anterior chamber and restoration of IOP to normal range was obtained after surgery.

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