ABSTRACT
This case series examines the efficacy of anifrolumab as a therapeutic option for patients with lupus erythematosus.
Subject(s)
Lupus Erythematosus, Discoid , Lupus Erythematosus, Systemic , Humans , Antibodies, Monoclonal, Humanized/therapeutic use , Lupus Erythematosus, Discoid/diagnosis , Lupus Erythematosus, Discoid/drug therapyABSTRACT
The PI3K/AKT/mTOR signaling pathway is a critical mediator of cell functions. Activating mutations of this pathway are known to disturb normal growth and development, leading to a range of overgrowth and neurologic syndromes. We report a case of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) in novel association with MTOR pathogenic variant c.6644C>A (p.Ser2215Tyr) and neonatal evanescent skin findings. This case highlights the importance of a thorough newborn cutaneous examination, as this initial window offers a critical opportunity for potential prognostication and surveillance for neurological sequelae.
Subject(s)
Megalencephaly , Polymicrogyria , Humans , Infant, Newborn , Megalencephaly/diagnosis , Megalencephaly/genetics , Mosaicism , Mutation , Phosphatidylinositol 3-Kinases , Polymicrogyria/diagnosis , Polymicrogyria/genetics , Syndrome , TOR Serine-Threonine Kinases/geneticsABSTRACT
Lymphangioma circumscriptum is a superficially localized variant of lymphangioma. The characteristic clinical presentation is a "frogspawn" grouping of vesicles or papulovesicles on the proximal limb or limb girdle areas. Though most lymphangiomas develop congenitally, the lymphangioma circumscriptum subtype is known to present in adults. We report a case of lymphangioma circumscriptum on the left inframammary area of an African American female with an unusual supernumerary nipple-like clinical presentation. Our patient presented with a firm, smooth, hypopigmented papule, and the clinical diagnosis of keloid was made initially. However, she returned reporting growth of the lesion and was noted to have a firm, exophytic, lobulated, pink to skin-colored nodule. Histopathological examination demonstrated dilated lymphatic vessels, consistent with the diagnosis of lymphangioma. The presentation as a firm, hypopigmented papule and later exophytic, lobulated, skin-colored nodule in our case represents a clinical presentation of lymphangioma circumscriptum not previously described in the literature. Correct diagnosis in lymphangioma circumscriptum is vital, as recurrence following surgical resection and secondary development of lymphangiosarcoma and squamous cell carcinoma following treatment with radiation have been reported. Thus, it is important to consider lymphangioma circumscriptum in the differential of similar lesions in the future to allow appropriate diagnosis, treatment, and monitoring.
ABSTRACT
Delusional infestation (DI), also known as delusional parasitosis, consists of a patient's strong belief that he or she is infested with a nonliving substance or living organism despite lack of medical evidence to support this belief. The most commonly reported sources of infestation include insects, fibrous strands, worms, and scabies. DI is predominantly seen in women and older patients. This disorder has a variable course and prognosis in patients. DI can be a primary psychiatric problem, or secondary to underlying medical conditions or other psychiatric disorders. It has been proposed that DI presents along a spectrum that includes four categories: overvalued concern of infestation, somatoform preoccupation, delusional state, and terminal delusional state. Management depends on the patient's category at presentation. The diagnostic approach for DI involves a thorough evaluation that can rule out medical conditions that underlie the patient's symptoms. This includes obtaining a detailed history, physical exam, and ordering laboratory tests. Treatment for primary DI includes both first and second-generation antipsychotics. Secondary DI treatment depends on the etiology. The prognosis of patients with DI is difficult to predict due to various factors including level of insight, underlying psychiatric conditions, and medication adherence. It is important for the physician to maintain a therapeutic relationship with the patient in order to properly address the patient's concerns.
Subject(s)
Antipsychotic Agents/administration & dosage , Delusional Parasitosis/drug therapy , Medication Adherence , Aged , Delusional Parasitosis/diagnosis , Delusional Parasitosis/etiology , Female , Humans , Male , Physician-Patient Relations , PrognosisABSTRACT
Postsurgical pyoderma gangrenosum (PSPG) is a rare but serious surgical complication with a predilection for the breast and abdomen. Immunosuppression is the mainstay of treatment of PSPG. In addition, it has become a common practice for clinicians to prophylactically treat patients with a history of PSPG with corticosteroids or immunomodulators during subsequent operative procedures to prevent recurrence. Although many practitioners have reported successful outcomes with these measures, currently no protocol exists for prophylactic perioperative therapy. Here, we present the clinical course and 10-year follow-up of a woman who developed PSPG after undergoing body-contouring surgery, subsequently underwent multiple operative procedures without prophylactic immunosuppression, and has not experienced recurrence of PSPG. This case suggests that prophylactic therapy may not be necessary in all patients with a history of PSPG and shows that further research into the use of perioperative immunosuppression to prevent PSPG recurrence may be warranted.
