Syphilis is a sexually transmitted infectious disease caused by the bacterium Treponema pallidum and can cause a wide variety of cutaneous manifestations, most commonly, a papulosquamous eruption of the trunk and extremities. Treatment with penicillin is curative. We report a case of a 69‐year‐old man who presented with recent onset of blurry vision and a nonpainful, nonpruritic eruption of pink‐to‐violaceous dermal nodules on his upper trunk and upper extremities. Biopsies of two separate locations revealed a dense superficial and deep perivascular atypical lymphocytic infiltrate with admixed plasma cells, histiocytes, and eosinophils. Some scattered cells expressed CD30, PD1, BCL‐6, and ICOS. T‐cell receptor (TCR)‐rearrangement showed an identical TCR‐gamma clone between both biopsy specimens. The patient was subsequently seen by ophthalmology and diagnosed with acute anterior uveitis. Rapid plasma reagin was reactive and cerebrospinal fluid studies showed findings consistent with a diagnosis of neurosyphilis. A T. pallidum immunostain of the skin biopsies was performed upon re‐review, and was diffusely positive for spirochetes at the dermal‐epidermal junction and within injured vessels. The patient was treated with penicillin G with near‐resolution of his skin lesions. This case highlights the unusual ability of syphilis to mimic a T‐cell lymphoma with matching clones across two different biopsy sites.
Precalcaneal congenital fibrolipomatous hamartomas are rare benign lesions that present in infancy. Lesions typically appear as unilateral or bilateral skin-colored asymptomatic subcutaneous nodules on the precalcaneal plantar heel. Diagnosis is clinical, and operative intervention is not indicated unless lesions are symptomatic. We report two cases of subcutaneous plantar nodules diagnosed as precalcaneal congenital fibrolipomatous hamartomas. The aim is to raise awareness of this rare diagnosis and emphasize its benign nature and conservative management.
Birt-Hogg-Dubé syndrome is rare genodermatosis caused by a mutation in the folliculin gene. It is characterized by pulmonary cysts, renal tumors, and a variety of skin manifestations including trichodiscomas, fibrofolliculomas, less commonly reported angiofibromas, and perifollicular fibromas. These cutaneous lesions have overlapping histopathologic features. Here we report a case of a man presenting with facial papules and nonspecific histology found to have Birt-Hogg-Dubé syndrome and a novel mutation in the folliculin gene. Our aim is to raise awareness of the spectrum of associated cutaneous and pathologic findings in Birt-Hogg-Dubé syndrome, which are not all included in the diagnostic criteria.
Background: Pityriasis rubra pilaris (PRP) is a rare disease that is difficult to manage. Treatment options include corticosteroids, immunomodulatory drugs, and biologics. Available literature has primarily described the use of weekly dosing of methotrexate, but there is limited data investigating the effectiveness of daily low-dose methotrexate in PRP treatment.
Methods: A retrospective cohort study was conducted from September 2010 to December 2019 to determine the effectiveness of daily low-dose methotrexate in treating PRP.
Results: The average duration of follow-up was 13.5 months. 14 patients were treated with oral daily low-dose methotrexate. 13 patients (92.9%) showed improvement on oral daily low-dose methotrexate. Mean time to clinical response was 5.9 weeks. In seven patients (50%), complete response on methotrexate monotherapy occurred within an average of 11.9 months. 12 patients (85.7%) developed asymptomatic transaminitis that resolved in most patients (66.7%) after dose reduction.
Conclusions: In this study, daily low-dose methotrexate was an effective treatment of PRP and may be considered in patients unresponsive to weekly dosing. Due to the high incidence of transaminitis, the authors recommend frequent lab monitoring and screening for risk factors. Further studies are warranted to elucidate the efficacy of daily low-dose methotrexate in the management of PRP.
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