![Treacher Collins Syndrome: Clinical Features, Genetics, & Treatment](/content/images/size/w100/2021/03/Untitled-design-34.jpg)
Treacher Collins Syndrome: Clinical Features, Genetics, & Treatment
Treacher Collins Syndrome is a genetic craniofacial syndrome characterised by hypoplasia, external ear and eyelid malformations and visual disturbance.
Treacher Collins Syndrome is a genetic craniofacial syndrome characterised by hypoplasia, external ear and eyelid malformations and visual disturbance.
Pierre Robin Sequence is glossoptosis, micrognathia and upper airway respiratory obstruction. This article details pathophysiology, causes and treatment.
A 39-year-old woman with forearm pain and inability to flex the thumb and index finger joints likely has Anterior Interosseous Nerve Syndrome (AINS).
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Ulnar Tunnel Syndrome involves compression of the ulnar nerve at the wrist. It manifests as motor and sensory issues, varying based on the compression site. Diagnosis primarily uses X-rays, while management ranges from non-surgical interventions to surgical decompression.
Anterior Interosseous Nerve Syndrome (AINS) affects the median nerve's motor branch, leading to muscle paralysis without sensory loss. Diagnosis involves physical exams, EMG, and imaging. Initial treatment is conservative, followed by surgery if symptoms persist.
Pronator Syndrome involves compression of the median nerve in the forearm, often affecting middle-aged women. It typically presents with forearm pain and a positive Tinel sign. Management starts conservatively with rest and splinting, progressing to surgery if symptoms persist.
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A 41-year-old woman presents with a slow-growing, numb, tingling lump on her index finger, indicative of a Schwannoma. Management involves surgical excision under local anesthesia, with emphasis on potential complications and post-operative care including physiotherapy.
Merkel Cell Carcinoma (MCC) is a rare, aggressive skin cancer, often linked to sun exposure and Merkel cell polyomavirus. It typically appears as a shiny, fast-growing nodule. Treatment includes surgical excision, radiotherapy, and possibly chemotherapy or immunotherapy based on the stage.
This clinical scenario examines the diagnosis, treatment and staging of Merkel Cell Carcinoma.
Progressive Hemifacial atrophy is the progressive wasting of facial structures. This article details the causes, clinical features and management.
Schwannomas are benign tumors originating from Schwann cells, causing pain, numbness, or weakness due to nerve compression. They are encapsulated, often affecting a single nerve fascicle. Surgical excision is indicated for symptomatic cases, with rare recurrence and excellent prognosis.
Craniofacial clefts are skeletal and soft-tissue abnormalities. This article details the Tessier Classification, types of clefts and their management.
Burns Fluid resuscitation aims to restore volume and preserve perfusion. This article details indications, types of fluids, formula calculations and complications.
An 8-year-old girl presents with a growing, pale pink mole on her face. Dermoscopic examination shows a symmetric pattern with rounded structures, suggesting a classic Spitz nevus. Management includes regular monitoring and possible excision if changes are observed.
Spitz nevus is a rare, benign melanocytic neoplasm in children, accounting for ~1% of childhood nevi. Characterized by larger melanocytes and Kamino bodies, it appears as dome-shaped papules with uniform pigmentation. Management varies by age and lesion changes, from monitoring to excision biopsy.
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Electrical Burns can be high voltage, low voltage, direct, or alternating current. They cause skin and deep tissue injury. This article details their causes, management, and complications.
Neck dissections are described as radical, extended, modified, and selective. This article details the indications, anatomy, and complications of neck dissections.
Tumours of the oral cavity are most commonly squamous cell carcinoma. This article details anatomy, staging, surgical, and reconstructive options.
The most common chemical burns are acids and alkalis. This article details their mechanisms, clinical features, and management.
Burns result in local and systemic complications. This article details these complications and management in burn patients.