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Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules.

ABSTRACT: Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious pathological outcomes, strategies followed in the diagnosis including histopathological evaluation aided by immunohistochemical investigations, and subsequent challenges that may be faced in the management of MFT in light of the presentation with multiple facial papules are documented in this case report.

SUBMITTER: Dissanayaka DWVN

PROVIDER: S-EPMC7499335 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules.

Dissanayaka D W V N DWVN Dassanayaka D K B DKB Jayasooriya P R PR

Case reports in dentistry 20200907

Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious p ...[more]

PMID: 32963838

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Project description:BackgroundMyasthenia gravis is an autoimmune condition affecting the neuromuscular junction and causing muscle weakness along with fatigue (myasthenia). When the clinical manifestations of myasthenia gravis are isolated to the eye muscles, only causing weak eye movements, it is referred to as ocular myasthenia gravis, which can mimic a 1 and ½ syndrome.Case presentationAn African-American female in her fifties with past medical history of hypertension presented to our outpatient clinic with complaints of blurred vision for two weeks. Her symptoms were associated with facial discomfort and a generalized headache. On physical examination upon her initial presentation, there was demonstratable swelling of the left upper eyelid with drooping. Her extraocular movements revealed defects with the abduction and adduction of the right eye, and the left eye would not adduct, although the outward movement was normal. The left eye failed to lift/elevate completely when looking upwards, a pseudo 1 and ½ syndrome. A positive Cogan lid twitch was also noticed. Imaging of the brain and orbit ruled out central causes. Diagnosis of ocular myasthenia gravis was made in accordance with positive anti-acetylcholine receptor antibodies. With 120 mg pyridostigmine oral dose, the patient experienced improvement subjectively and objectively, and the patient was discharged on oral pyridostigmine and prednisone. Six months later, with prednisone having been tapered off, the patient developed a myasthenic crisis and was treated with plasmapheresis and intravenous immunoglobulins. After recovering from the myasthenic crisis, efgartigimod infusions were instituted, which helped our patient restore normal life.ConclusionOur patient who presented with "blurred vision" was discovered to have binocular diplopia due to significant dysconjugate eye movements. After diligently ruling out central etiologies, we concluded that her presentation was due to a peripheral etiology. Her serologies and her presentation helped confirm a diagnosis of ocular myasthenia gravis. Also, as in most cases, our patient also progressed to develop generalized myasthenia gravis while on pyridostigmine. Efgartigimod infusions instituted after our patient recovered from a myasthenic crisis have helped her restore a normal life.

Dataset Information

Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules.

Publications

Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules.

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