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1.
Cureus ; 15(11): e48849, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38106732

RESUMO

Relapsing polychondritis (RP) is a rare autoimmune condition that involves the recurrent inflammation of cartilage throughout the body, with a predilection for auricular and nasal cartilage. Given its rarity and diverse clinical presentations, RP is frequently misdiagnosed or left untreated, which can lead to significant morbidity and mortality. When it is correctly diagnosed, there are no standardized guidelines on the treatment of RP to date. Management of this disease requires a multidisciplinary approach, and about 30% of patients with RP have other autoimmune disorders, further complicating the approach to targeted treatment. Biologic agents (including TNF inhibitors) are commonly used. We present a compelling case of a 46-year-old female with rheumatoid arthritis (well-controlled on adalimumab) and hypothyroidism who presented to the dermatology clinic with recurrent episodes of painful, swollen, and erythematous ears, leading to a clinical diagnosis of relapsing polychondritis. Off-label use of oral pentoxifylline, along with topical corticosteroids, led to significant improvement in her symptoms. Dermatologists play an important role in the diagnosis of this rare disorder, as skin manifestations may be the initial presenting sign of RP. Further research into potentially effective treatments is needed. Timely identification and management of RP may prevent the progression of cartilage destruction, thus improving patients' long-term prognosis and overall quality of life.

2.
Clin Case Rep ; 11(9): e7907, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37705587

RESUMO

The diagnosis of solitary mastocytoma is usually made clinically, however, atypical presentations may obscure the diagnosis. We present a unique case of solitary cutaneous mastocytoma in an 11-month-old male initially misdiagnosed as atopic dermatitis; the diagnosis was obscured due to the development of an allergic contact dermatitis most likely secondary to topical medications that were being applied to the lesion. The diagnosis of solitary cutaneous mastocytoma is made based on lesion morphology, Darier's sign, and lack of systemic involvement. Most solitary cutaneous mastocytomas resolve before puberty; symptomatic treatment and avoidance of triggers are mainstay therapy.

3.
Cureus ; 15(5): e39043, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37323331

RESUMO

Pilomatricoma is a benign skin tumor of epithelial hair matrix cells that typically presents as a solitary nodule on the head or upper trunk. It occurs most often in children and young adults. While considered uncommon in middle-aged and elderly patients, there are reports of elderly patients with histopathologically diagnosed pilomatricomas; however, these cases primarily occurred on the face. We present a case of an 88-year-old female with a history of non-melanoma skin cancer who presented with a new, rapidly enlarging, biopsy-proven pilomatricoma on the forearm. This case highlights a unique age of onset and location for this skin tumor, suggesting that pilomatricomas are not limited to children and young adults and should be considered in the differential diagnosis of rapidly growing skin lesions in elderly patients. Diagnosis should be confirmed with biopsy in elderly patients, as pilomatricomas may mimic malignant skin lesions.

4.
Pediatr Dermatol ; 39(5): 764-766, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35739628

RESUMO

Elephantiasis neuromatosa (EN) is a rare and extreme form of plexiform neurofibroma in patients with neurofibromatosis type 1 (NF1). EN is often associated with significant morbidity and remains difficult to treat. We present a case of an 11-year-old female with NF1 whose thoracolumbar plexiform neurofibroma and lower extremity EN exhibited clinical improvement from treatment with selumetinib, a selective MEK inhibitor.


Assuntos
Elefantíase , Neurofibroma Plexiforme , Neurofibromatose 1 , Benzimidazóis , Criança , Elefantíase/complicações , Feminino , Humanos , Quinases de Proteína Quinase Ativadas por Mitógeno/uso terapêutico , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/tratamento farmacológico , Neurofibromatose 1/complicações , Neurofibromatose 1/tratamento farmacológico
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