Scleroderma with Acro-Osteolysis and Papular Mucinosis Resembling Multicentric Reticulohistiocytosis

Objectives: We describe a case of systemic sclerosis (SS) with acro-osteolysis associated with cutaneous mucinosis, usually characterized by mucin deposition in the skin. The main differential diagnosis was multicentric reticulohistiocytosis due to the presentation of papulonodular skin lesions. Materials and methods: A physical examination, imaging studies and laboratory tests were performed. Results: Distal bone resorption was evident on plain radiographs, and skin biopsy confirmed mucinosis. The SS diagnosis was based on the clinical features, high levels of antinucleolar antibodies and typical nailfold capillaroscopy findings. Conclusion: To the best of our knowledge, this is the first description of cutaneous mucinosis accompanying SS with acro-osteolysis.

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Differential Diagnosis of Azoospermia in Men with Infertility

Journal of Clinical Medicine ◽

10.3390/jcm10143144 ◽

2021 ◽

Vol 10 (14) ◽

pp. 3144

Author(s):

Danilo L. Andrade ◽

Marina C. Viana ◽

Sandro C. Esteves

Keyword(s):

Differential Diagnosis ◽

Physical Examination ◽

Detailed Analysis ◽

Clinical Management ◽

Semen Analysis ◽

Testicular Biopsy ◽

Nonobstructive Azoospermia ◽

Sperm Cryopreservation ◽

Imaging Studies ◽

Detailed Medical History

The differential diagnosis between obstructive and nonobstructive azoospermia is the first step in the clinical management of azoospermic patients with infertility. It includes a detailed medical history and physical examination, semen analysis, hormonal assessment, genetic tests, and imaging studies. A testicular biopsy is reserved for the cases of doubt, mainly in patients whose history, physical examination, and endocrine analysis are inconclusive. The latter should be combined with sperm extraction for possible sperm cryopreservation. We present a detailed analysis on how to make the azoospermia differential diagnosis and discuss three clinical cases where the differential diagnosis was challenging. A coordinated effort involving reproductive urologists/andrologists, geneticists, pathologists, and embryologists will offer the best diagnostic path for men with azoospermia.

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Factor V Leiden Mutation–Related Chronic Skin Ulcers

The International Journal of Lower Extremity Wounds ◽

10.1177/1534734613479379 ◽

2013 ◽

Vol 12 (1) ◽

pp. 35-38 ◽

Cited By ~ 1

Author(s):

Kadir Kayatas ◽

Filiz Cebeci ◽

Cumali Karatoprak ◽

Muhammet Benzer ◽

Refik Demirtunç ◽

...

Keyword(s):

Differential Diagnosis ◽

Skin Biopsy ◽

Hyperbaric Oxygen ◽

Factor V Leiden ◽

Skin Lesions ◽

Factor V ◽

Factor V Leiden Mutation ◽

Woman Patient ◽

Skin Ulcers ◽

Chronic Skin

Chronic skin ulcers require extensive, systemic differential diagnosis; thus, they are difficult to diagnose and treat. Transient or persistent hypercoagulable states are among the rare causes of skin ulcers. Here, we present the case of a 27-year-old woman patient with recurrent, nonhealing skin ulcers of 8 years’ duration, who had been treated unsuccessfully with various medications under different diagnoses at different clinics. On admission, a skin biopsy demonstrated occlusive vasculopathy, and the search for an inherited hypercoagulable state revealed a heterozygous factor V Leiden mutation. The patient was treated with anticoagulants and hyperbaric oxygen. On treatment, the skin lesions healed and did not recur.

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A 62-year-old man with new-onset bullae

Allergy and Asthma Proceedings ◽

10.2500/aap.2021.42.200055 ◽

2021 ◽

Vol 42 (2) ◽

pp. 175-179

Author(s):

August J. Generoso ◽

Jordana A. Goldman ◽

Alan H. Wolff

Keyword(s):

Differential Diagnosis ◽

Lower Extremity ◽

Physical Examination ◽

Antibiotic Treatment ◽

Drug Hypersensitivity ◽

Genetic Diseases ◽

Skin Lesions ◽

Autoimmune Disorders ◽

Autoimmune Conditions ◽

New Onset

Cutaneous blisters and/or bullae can occur in autoimmune disorders, infections, genetic diseases, and drug hypersensitivity. We present the case of a 62-year-old man with two autoimmune conditions who was admitted for antibiotic treatment of a lower extremity infection and suddenly developed a bullous rash. His physical examination was significant for tense, bullous lesions that involved his chin, palms, and inner thighs. Narrowing the differential diagnosis for patients with blistering skin lesions is imperative for timely and appropriate management.

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Diffuse Skin Tightness in Familial Mediterranean Fever: A Case Report and Review of Literature

Galen Medical Journal ◽

10.31661/gmj.v4i4.552 ◽

2015 ◽

Vol 4 (4) ◽

pp. 169-72

Author(s):

Elham Behrangi ◽

Nasrin Shayanfar ◽

Hadi Mohagheghian Yaghoubi ◽

Saman Aghabekloo ◽

Zahra Azizian

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Systemic Sclerosis ◽

Familial Mediterranean Fever ◽

Physical Examination ◽

Autosomal Recessive ◽

Review Of Literature ◽

Case Presentation ◽

Tight Skin ◽

Mediterranean Fever

Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disorder that has skin presentations like vasculitis and paniculitis. There has not been shown any association between systemic sclerosis and FMF in studies. Hence, we report a case of FMF with diffuse skin tightness. Case Presentation: An 18-year-old girl known as a case of FMF for 3 years presents to our department with tight skin since childhood. The stiffness of skin appeared when she was about 7 years old. In physical examination, tight skin with general induration in all surfaces of skin, sclerodactyly and beaked nose microstomia are noticed. The findings of all hematological, biochemical and pathological studies were normal. Conclusion: Finally, it may be concluded that FMF should be considered as a differential diagnosis in patients attending with skin tightness and the possible etiology is cytokines. [GMJ.2015;4(4):169-72]

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A case of seminoma presented with clinical manifestations of testicular torsion

Archivio Italiano di Urologia e Andrologia ◽

10.4081/aiua.2017.3.236 ◽

2017 ◽

Vol 89 (3) ◽

pp. 236

Author(s):

Aytac Sahin ◽

Caglar Yildirim ◽

Serkan Akan ◽

Ozgur Haki Yuksel ◽

Ahmet Urkmez

Keyword(s):

Differential Diagnosis ◽

Physical Examination ◽

Clinical Picture ◽

Laboratory Tests ◽

Testicular Torsion ◽

Clinical Manifestations ◽

Testicular Tumor ◽

Imaging Modalities ◽

Acute Scrotum ◽

Testicular Tumors

Testicular tumors rarely manifest themselves with clinical picture of testicular torsion. In this presentation of ours, we reported a 30-year-old patient whose post-orchiectomy histopathology report revealed the presence of seminoma. The patient consulted us with acute scrotum whose physical examination and Doppler ultrasonographic findings showed testicular torsion. Though rarely seen patients, in cases who consulted with acute scrotum, the possibility of testicular tumor should not be discarded. For the establishment of differential diagnosis detailed anamnesis and physical examination findings should be supported with laboratory tests and imaging modalities.

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Bullous Mastocytosis In Infants: A Case Report

Journal of Dr Behcet Uz Children s Hospital ◽

10.5222/buchd.2020.59375 ◽

2020 ◽

Author(s):

Selim Ayvacı ◽

Malik Ergin ◽

Özge Besci ◽

Canan Şule Karkiner ◽

Davi Habif ◽

...

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Physical Examination ◽

Skin Biopsy ◽

Definitive Diagnosis ◽

Immune Deficiencies ◽

Cutaneous Mastocytosis ◽

Bullous Mastocytosis ◽

Potential Conditions

Cutaneous mastocytosis is one of the diseases that will be considered in the differential diagnosis of patients presenting with urticarial plaques and common bullae. Its differential diagnosis should be made among other potential conditions such as bullous impetigo, bullous pemphigoid or eczematous eruptions accompanying immune deficiencies. The close follow up of evolution of specific lesions with detailed anamnesis, and physical examination the diagnosis of cutanous mastocytosis should be considered in priority. Detection of Darier’s sign is also helpful during examination. Definitive diagnosis can only be established after performing a skin biopsy. Here, we present a 2.5 month-old infant with cutanous mastocytosis and discuss differential diagnosis and therapeutic features in light of current literature.

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Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy

Journal of Child Neurology ◽

10.1177/0883073817706028 ◽

2017 ◽

Vol 32 (8) ◽

pp. 774-788 ◽

Cited By ~ 2

Author(s):

Arnold J. Sansevere ◽

Jennifer Avalone ◽

Lauren Doyle Strauss ◽

Archana A. Patel ◽

Anna Pinto ◽

...

Keyword(s):

Differential Diagnosis ◽

Physical Examination ◽

Children And Adolescents ◽

Diagnostic Criteria ◽

Laboratory Tests ◽

Pediatric Patients ◽

Clinical Presentation ◽

Therapeutic Management ◽

Unprovoked Seizure ◽

Definition Of

By definition, unprovoked seizures are not precipitated by an identifiable factor, such as fever or trauma. A thorough history and physical examination are essential to caring for pediatric patients with a potential first unprovoked seizure. Differential diagnosis, EEG, neuroimaging, laboratory tests, and initiation of treatment will be reviewed. Treatment is typically initiated after 2 unprovoked seizures, or after 1 seizure in select patients with distinct epilepsy syndromes. Recent expansion of the definition of epilepsy by the ILAE allows for the diagnosis of epilepsy to be made after the first seizure if the clinical presentation and supporting diagnostic studies suggest a greater than 60% chance of a second seizure. This review summarizes the current literature on the diagnostic and therapeutic management of first unprovoked seizure in children and adolescents while taking into consideration the revised diagnostic criteria of epilepsy.

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Malignant priapism secondary to isolated penile metastasis from a renal pelvic carcinoma

Canadian Urological Association Journal ◽

10.5489/cuaj.1695 ◽

2014 ◽

Vol 8 (7-8) ◽

pp. 558 ◽

Cited By ~ 2

Author(s):

Sulai Liu ◽

Fuhua Zeng ◽

Lin Qi ◽

Shusuan Jiang ◽

Pingping Tan ◽

...

Keyword(s):

Physical Examination ◽

Urothelial Carcinoma ◽

Radical Resection ◽

Skin Lesions ◽

Imaging Studies ◽

Penile Shaft ◽

Penile Metastasis ◽

First Case ◽

Malignant Priapism ◽

Sarcomatoid Differentiation

We report a case of isolated penile metastasis from renal pelvic carcinoma in a 69-year-old man with malignant priapism. The patient had radical resection of the renal pelvic carcinoma 2 months earlier with urothelial carcinoma (UC) and sarcomatoid differentiation histology. Physical examination showed no visible skin lesions, but a palpable hard nodule was present over the penile shaft. The imaging studies did not reveal other metastases. Cavernous-Glans shunt and nodule resection were performed, and histological examination showed metastasis UC with sarcomatoid differentiation. To our knowledge, we describe the first case of malignant priapism due to isolated penile metastasis of renal pelvic carcinoma.

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