ABSTRACT
Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations. The skin findings may mimic cellulitis, erythema elevatum diutinum, IgA vasculitis, and Sweet syndrome, and there is often a morbilliform or urticarial rash and aphthous stomatitis. Mevalonate kinase deficiency is one of the identified monogenic variants that can cause very early onset inflammatory bowel disease (IBD). We present a rare case of a patient with mevalonate kinase deficiency, neonatal Sweet syndrome, and infantile-onset IBD, who has been successfully treated with canakinumab therapy.
Subject(s)
Inflammatory Bowel Diseases , Mevalonate Kinase Deficiency , Sweet Syndrome , Vasculitis, Leukocytoclastic, Cutaneous , Infant, Newborn , Humans , Mevalonate Kinase Deficiency/complications , Mevalonate Kinase Deficiency/diagnosis , Mevalonate Kinase Deficiency/drug therapy , Inflammatory Bowel Diseases/complications , Inflammatory Bowel Diseases/diagnosis , Inflammatory Bowel Diseases/drug therapyABSTRACT
Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a rare benign skin lesion that typically presents at birth, or within the first several years of life, as single or multiple asymptomatic skin-colored papules or nodules on the plantar heels. We present a classic case of PCFH in a 3-year-old child. This uncommon entity has no reported malignant features or malignant transformations. We demonstrate how this diagnosis can be made clinically without subjecting pediatric patients to potentially painful, traumatizing, costly skin biopsies and unnecessary imaging.
Subject(s)
Carcinoma, Squamous Cell/surgery , Mohs Surgery/methods , Nasal Surgical Procedures/methods , Nose Neoplasms/surgery , Skin Neoplasms/surgery , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/pathology , Humans , Male , Middle Aged , Nasal Septum/pathology , Nose Neoplasms/diagnosis , Nose Neoplasms/pathology , Skin Neoplasms/diagnosis , Skin Neoplasms/pathologyABSTRACT
Late-onset focal dermal elastosis is a clinical mimic of pseudoxanthoma elasticum that lacks associations with systemic disease. Although initial reports asserted that the disorder occurs only in the elderly, a growing body of case reports document cases in patients as young as 39 years. We present a case of a 59-year-old woman with this disorder. To reflect the broad age range of patients affected by this disorder, we propose the term "focal dermal elastosis."
Subject(s)
Elastic Tissue/pathology , Skin Diseases/pathology , Terminology as Topic , Female , Humans , Late Onset Disorders/pathology , Middle AgedABSTRACT
Blastomycosis is a rare fungal infection that frequently involves the skin. Atypical presentations are important to identify, especially in pregnant patients, to initiate appropriate therapy and prevent complications. Uniquely, we describe a case of atypical blastomycosis that presented with painful cutaneous abscesses in a pregnant patient, with dissemination to the central nervous system. The case was successfully treated with liposomal amphotericin B transitioned to voriconazole after delivery without complications for the patient or fetus.
Subject(s)
Carcinoma, Basal Cell/pathology , Ear Auricle/pathology , Skin Neoplasms/pathology , Aged, 80 and over , Carcinoma, Basal Cell/blood supply , Carcinoma, Basal Cell/surgery , Ear Auricle/blood supply , Ear Auricle/surgery , Female , Humans , Neoplasm Invasiveness , Skin Neoplasms/blood supply , Skin Neoplasms/surgeryABSTRACT
Candida albicans cells have the ability to form biofilms on biotic and abiotic surfaces, such as indwelling medical devices. C. albicans cells can interconvert between budded and hyphal growth forms, herein termed the budded-to-hyphal transition (BHT), which is important for the formation of mature biofilms. Previous work identified 23 small organic molecules that could inhibit the BHT but did not affect C. albicans cell viability or budded cell growth. These BHT inhibitors were proposed to inhibit multiple signalling pathways regulating the BHT, many of which also regulate biofilm formation. However, only three of the BHT inhibitors, buhytrinA, ETYA and CGP-37157, were capable of inhibiting in vitro biofilm formation of wild-type laboratory C. albicans strains. When clinical C. albicans isolates were examined for their ability to form biofilms, only 11 of the 28 clinical isolates tested (39%) were capable of forming biofilms. Although buhytrinA, ETYA and CGP-37157 could inhibit the BHT of all 28 clinical isolates, they were only able to inhibit biofilm formation of a subset of these clinical isolates, with ETYA having 100% efficacy. These data indicate that the biofilm-forming capability of laboratory and clinical isolates of C. albicans, as well as the efficacy of BHT inhibitors against these different isolates, can differ dramatically. These differences between laboratory and clinical isolates should be an important aspect to consider when examining potentially new antifungal therapeutics.