Familial recurrence of SOX2 anophthalmia syndrome:phenotypically normal mother with two affected daughters [PDF]
The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10–15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common.
Bardakjian, Tanya M +11 more
core +1 more source
Human Mast Cells and Mastocytosis: Harnessing MicroRNA Expression as a New Approach to Therapy? [PDF]
MicroRNAs (miRNAs) are short, non-coding RNAs that have emerged as key post-transcriptional regulators in a wide variety of organisms and critical cellular processes.
Deho', Lorenzo, Monticelli, Silvia
core
Dermoscopy in general dermatology: A practical overview [PDF]
Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders.
Errichetti, Enzo, Stinco, Giuseppe
core +1 more source
Allergy, Volume 80, Issue 10, Page 2904-2908, October 2025.
Jasper B. J. Kamphuis +19 more
wiley +1 more source
Erhöhte basale Serumtryptasekonzentration oder Mastozytose als Risikofaktor der Hymenopterengiftallergie Leitlinie der Deutschen Gesellschaft für Allergologie und Klinische Immunologie (DGAKI) (AWMF-Leitlinie 061/018) [PDF]
Hymenopterengift-allergische Patienten mit Mastzellerkrankung, das heißt Mastozytose und/oder erhöhtem basalen Serumtryptasespiegel, haben ein hohes Risiko schwerer, lebensbedrohender Stichreaktionen.
Jarisch, Reinhart +3 more
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Bullous mastocytosis: a Case Report
Mastocytosis is a disorder characterized by abnormal mast cell proliferation. The skin is the most common site of involvement. Extracutaneous involvement occurs in systemic mastocytosis with infiltrations in the gastrointestinal tract, lymph nodes, bone ...
Galal El Enany +7 more
doaj +1 more source
Drug hypersensitivity reactions and allergy in patients with mastocytosis
Mastocytosis is a rare myeloproliferative disease caused by excessive proliferation and accumulation of mast cells in the skin and internal organs. The most common variant of mastocytosis in children is cutaneous mastocytosis.
Justyna H. Czarny +7 more
doaj +1 more source
Disseminated tense bullae on newborn
Graziele Áquila de Souza Brandão, MD +4 more
doaj +1 more source
Dermatofibroma: a curious tumor. [PDF]
A tumor, such as a dermatofibroma, causes consternation among many patients, but it rarely creates problems on its own. Also called a histiocytoma, it remains one of the most common mesenchymal growths.
Lambert, Peter C +3 more
core +1 more source
A Comprehensive Review of Mastocytosis From Pathophysiology to Management Strategies
Introduction: Mastocytosis is a rare hematologic neoplasm characterized by the abnormal proliferation and accumulation of mast cells in various tissues. Its clinical manifestations vary widely, ranging from cutaneous lesions to systemic involvement with
Magdalena Marchaj +9 more
doaj +1 more source

